<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

1. calcium ion binding Source: InterPro

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

1. apoptotic process Source: Reactome
2. bundle of His cell to Purkinje myocyte communication Source: BHF-UCL

   <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

   • 22781308

3. cell adhesion Source: UniProtKB

   <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

   • 17559062

4. cellular component disassembly involved in execution phase of apoptosis Source: Reactome
5. homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
6. maternal process involved in female pregnancy Source: Ensembl
7. regulation of heart rate by cardiac conduction Source: BHF-UCL

   <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

   • 22781308

8. response to progesterone Source: Ensembl
9. ventricular cardiac muscle cell action potential Source: BHF-UCL

   <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

   • 22781308

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Biological processⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Ligandⁱ

Enzyme and pathway databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Topology

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.</p><p><a href='../manual/topo_dom' target='_top'>More...</a></p>Topological domaini	50 – 609	560	ExtracellularSequence Analysis			Add BLAST
<p>Describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.</p><p><a href='../manual/transmem' target='_top'>More...</a></p>Transmembranei	610 – 634	25	HelicalSequence Analysis			Add BLAST
<p>Describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.</p><p><a href='../manual/topo_dom' target='_top'>More...</a></p>Topological domaini	635 – 1118	484	CytoplasmicSequence Analysis			Add BLAST

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componentⁱ

1. apical plasma membrane Source: Ensembl
2. cell-cell junction Source: ProtInc

   <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

   • 8143788

3. cell surface Source: UniProtKB

   <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

   • 19581412

4. desmosome Source: UniProtKB-SubCell
5. extracellular vesicular exosome Source: UniProtKB

   <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

   • 19199708

6. integral component of membrane Source: UniProtKB-KW
7. lateral plasma membrane Source: Ensembl
8. plasma membrane Source: UniProtKB

   <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

   • 20859650

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Cellular componentⁱ

<p>Provides information on the disease(s) and phenotype(s) associated with the deficiency of a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>Provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim"><span class="caps">OMIM</span></a> database are represented with a <a href="/diseases">controlled vocabulary</a> in the following way:</p><p><a href='../manual/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)

[MIM:610193]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.4 Publications

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.17

  "DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy."
  Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P.
  Am. J. Hum. Genet. 79:136-142(2006) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812.
• Ref.19

  "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy."
  den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P.
  Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56.
• Ref.20

  "Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia."
  Barahona-Dussault C., Benito B., Campuzano O., Iglesias A., Leung T.L., Robb L., Talajic M., Brugada R.
  Clin. Genet. 77:37-48(2010) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT ARVD10 HIS-49, VARIANTS VAL-293; LYS-713; LYS-773 AND GLY-920.
• Ref.21

  "Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations."
  Gehmlich K., Syrris P., Peskett E., Evans A., Ehler E., Asimaki A., Anastasakis A., Tsatsopoulou A., Vouliotis A.I., Stefanadis C., Saffitz J.E., Protonotarios N., McKenna W.J.
  Cardiovasc. Res. 90:77-87(2011) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT ARVD10 HIS-49.

Note: The disease is caused by mutations affecting the gene represented in this entry.

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	46 – 46	1	R → Q in ARVD10. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.17 "DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy." Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P. Am. J. Hum. Genet. 79:136-142(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56.		VAR_029365
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	49 – 49	1	R → H in ARVD10. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.17 "DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy." Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P. Am. J. Hum. Genet. 79:136-142(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56. Ref.20 "Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia." Barahona-Dussault C., Benito B., Campuzano O., Iglesias A., Leung T.L., Robb L., Talajic M., Brugada R. Clin. Genet. 77:37-48(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARVD10 HIS-49, VARIANTS VAL-293; LYS-713; LYS-773 AND GLY-920. Ref.21 "Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations." Gehmlich K., Syrris P., Peskett E., Evans A., Ehler E., Asimaki A., Anastasakis A., Tsatsopoulou A., Vouliotis A.I., Stefanadis C., Saffitz J.E., Protonotarios N., McKenna W.J. Cardiovasc. Res. 90:77-87(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARVD10 HIS-49.		VAR_029366
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	56 – 56	1	V → M Associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.18 "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy." Posch M.G., Posch M.J., Geier C., Erdmann B., Mueller W., Richter A., Ruppert V., Pankuweit S., Maisch B., Perrot A., Buttgereit J., Dietz R., Haverkamp W., Ozcelik C. Mol. Genet. Metab. 95:74-80(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MET-56; GLY-158; VAL-293; LYS-713; LYS-773 AND GLY-920, INVOLVEMENT IN SUSCEPTIBILITY TO CMD1BB. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56. Corresponds to variant rs121913013 [ dbSNP | Ensembl ].		VAR_062387
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	335 – 335	1	T → A in ARVD10. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56. Corresponds to variant rs191564916 [ dbSNP | Ensembl ].		VAR_065686
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	507 – 507	1	C → Y in ARVD10. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.17 "DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy." Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P. Am. J. Hum. Genet. 79:136-142(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56.		VAR_029367
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	812 – 812	1	G → C in ARVD10. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.17 "DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy." Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P. Am. J. Hum. Genet. 79:136-142(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56.		VAR_029368

Cardiomyopathy, dilated 1BB (CMD1BB)

[MIM:612877]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.1 Publication

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.18

  "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy."
  Posch M.G., Posch M.J., Geier C., Erdmann B., Mueller W., Richter A., Ruppert V., Pankuweit S., Maisch B., Perrot A., Buttgereit J., Dietz R., Haverkamp W., Ozcelik C.
  Mol. Genet. Metab. 95:74-80(2008) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS MET-56; GLY-158; VAL-293; LYS-713; LYS-773 AND GLY-920, INVOLVEMENT IN SUSCEPTIBILITY TO CMD1BB.

Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	56 – 56	1	V → M Associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.18 "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy." Posch M.G., Posch M.J., Geier C., Erdmann B., Mueller W., Richter A., Ruppert V., Pankuweit S., Maisch B., Perrot A., Buttgereit J., Dietz R., Haverkamp W., Ozcelik C. Mol. Genet. Metab. 95:74-80(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MET-56; GLY-158; VAL-293; LYS-713; LYS-773 AND GLY-920, INVOLVEMENT IN SUSCEPTIBILITY TO CMD1BB. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56. Corresponds to variant rs121913013 [ dbSNP | Ensembl ].		VAR_062387

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Diseaseⁱ

Organism-specific databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Denotes the presence of an N-terminal signal peptide.</p><p><a href='../manual/signal' target='_top'>More...</a></p>Signal peptidei	1 – 23	23	Sequence Analysis			Add BLAST
<p>Describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.</p><p><a href='../manual/propep' target='_top'>More...</a></p>Propeptidei	24 – 49	26	Sequence Analysis		PRO_0000003845	Add BLAST
<p>Describes the extent of a polypeptide chain in the mature protein following processing.</p><p><a href='../manual/chain' target='_top'>More...</a></p>Chaini	50 – 1118	1069	Desmoglein-2		PRO_0000003846	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Specifies the position and type of each covalently attached glycan group (mono-, di- , or polysaccharide).</p><p><a href='../manual/carbohyd' target='_top'>More...</a></p>Glycosylationi	112 – 112	1	N-linked (GlcNAc...)2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.4 "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry." Zhang H., Li X.-J., Martin D.B., Aebersold R. Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-112. Ref.9 "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-112 AND ASN-182.
<p>Specifies the position and type of each covalently attached glycan group (mono-, di- , or polysaccharide).</p><p><a href='../manual/carbohyd' target='_top'>More...</a></p>Glycosylationi	182 – 182	1	N-linked (GlcNAc...)3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.5 "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-182. Ref.9 "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-112 AND ASN-182. Ref.11 "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins." Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D. Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-182 AND ASN-462.
<p>Specifies the position and type of each covalently attached glycan group (mono-, di- , or polysaccharide).</p><p><a href='../manual/carbohyd' target='_top'>More...</a></p>Glycosylationi	309 – 309	1	N-linked (GlcNAc...)Sequence Analysis
<p>Specifies the position and type of each covalently attached glycan group (mono-, di- , or polysaccharide).</p><p><a href='../manual/carbohyd' target='_top'>More...</a></p>Glycosylationi	462 – 462	1	N-linked (GlcNAc...) (complex)2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.10 "A strategy for precise and large scale identification of core fucosylated glycoproteins." Jia W., Lu Z., Fu Y., Wang H.P., Wang L.H., Chi H., Yuan Z.F., Zheng Z.B., Song L.N., Han H.H., Liang Y.M., Wang J.L., Cai Y., Zhang Y.K., Deng Y.L., Ying W.T., He S.M., Qian X.H. Mol. Cell. Proteomics 8:913-923(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-462. Ref.11 "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins." Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D. Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-182 AND ASN-462.
<p>Specifies the position and type of each covalently attached glycan group (mono-, di- , or polysaccharide).</p><p><a href='../manual/carbohyd' target='_top'>More...</a></p>Glycosylationi	514 – 514	1	N-linked (GlcNAc...)Sequence Analysis
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	680 – 680	1	Phosphoserine6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.7 "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.8 "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.12 "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.13 "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680 AND SER-1118, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.15 "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680 AND SER-703, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	703 – 703	1	Phosphoserine1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.15 "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680 AND SER-703, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	1118 – 1118	1	Phosphoserine1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.13 "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680 AND SER-1118, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - PTMⁱ

Proteomic databases

PTM databases

Miscellaneous databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.</p><p><a href='../manual/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactionⁱ

Protein-protein interaction databases

<p>Provides information on the tertiary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structureⁱ

Secondary structure

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi	56 – 62	7	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi	77 – 81	5	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi	86 – 91	6	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni	92 – 94	3	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi	95 – 98	4	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi	100 – 105	6	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni	106 – 109	4	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi	110 – 113	4	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni	119 – 121	3	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi	122 – 132	11	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi	138 – 143	6	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG
<p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi	146 – 150	5	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2YQG

3D structure databases

Miscellaneous databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.</p><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini	50 – 160	111	Cadherin 1PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi PROSITE-ProRule:PRU00043			Add BLAST
<p>Describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.</p><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini	161 – 273	113	Cadherin 2PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi PROSITE-ProRule:PRU00043			Add BLAST
<p>Describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.</p><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini	274 – 388	115	Cadherin 3PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi PROSITE-ProRule:PRU00043			Add BLAST
<p>Describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.</p><p><a href='../manual/domain' target='_top'>More...</a></p>Domaini	389 – 503	115	Cadherin 4PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi PROSITE-ProRule:PRU00043			Add BLAST
<p>Indicates the positions and types of repeated sequence motifs or repeated domains within the protein.</p><p><a href='../manual/repeat' target='_top'>More...</a></p>Repeati	881 – 912	32	Desmoglein repeat 1			Add BLAST
<p>Indicates the positions and types of repeated sequence motifs or repeated domains within the protein.</p><p><a href='../manual/repeat' target='_top'>More...</a></p>Repeati	913 – 942	30	Desmoglein repeat 2			Add BLAST
<p>Indicates the positions and types of repeated sequence motifs or repeated domains within the protein.</p><p><a href='../manual/repeat' target='_top'>More...</a></p>Repeati	943 – 968	26	Desmoglein repeat 3			Add BLAST
<p>Indicates the positions and types of repeated sequence motifs or repeated domains within the protein.</p><p><a href='../manual/repeat' target='_top'>More...</a></p>Repeati	969 – 992	24	Desmoglein repeat 4			Add BLAST
<p>Indicates the positions and types of repeated sequence motifs or repeated domains within the protein.</p><p><a href='../manual/repeat' target='_top'>More...</a></p>Repeati	993 – 1021	29	Desmoglein repeat 5			Add BLAST
<p>Indicates the positions and types of repeated sequence motifs or repeated domains within the protein.</p><p><a href='../manual/repeat' target='_top'>More...</a></p>Repeati	1022 – 1051	30	Desmoglein repeat 6			Add BLAST

<p>Provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.</p><p><a href='../manual/domain_cc' target='_top'>More...</a></p>Domainⁱ

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>Indicates if the canonical sequence displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

<p>Indicates if the canonical sequence displayed by default in the entry is in its mature form or if it represents the precursor.</p><p><a href='../manual/sequence_processing' target='_top'>More...</a></p>Sequence processingⁱ: The displayed sequence is further processed into a mature form.

        10         20         30         40         50
MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA 
        60         70         80         90        100
WITAPVALRE GEDLSKKNPI AKIHSDLAEE RGLKITYKYT GKGITEPPFG 
       110        120        130        140        150
IFVFNKDTGE LNVTSILDRE ETPFFLLTGY ALDARGNNVE KPLELRIKVL 
       160        170        180        190        200
DINDNEPVFT QDVFVGSVEE LSAAHTLVMK INATDADEPN TLNSKISYRI 
       210        220        230        240        250
VSLEPAYPPV FYLNKDTGEI YTTSVTLDRE EHSSYTLTVE ARDGNGEVTD 
       260        270        280        290        300
KPVKQAQVQI RILDVNDNIP VVENKVLEGM VEENQVNVEV TRIKVFDADE 
       310        320        330        340        350
IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF 
       360        370        380        390        400
SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES 
       410        420        430        440        450
MDRSSKGQII GNFQAFDEDT GLPAHARYVK LEDRDNWISV DSVTSEIKLA 
       460        470        480        490        500
KLPDFESRYV QNGTYTVKIV AISEDYPRKT ITGTVLINVE DINDNCPTLI 
       510        520        530        540        550
EPVQTICHDA EYVNVTAEDL DGHPNSGPFS FSVIDKPPGM AEKWKIARQE 
       560        570        580        590        600
STSVLLQQSE KKLGRSEIQF LISDNQGFSC PEKQVLTLTV CECLHGSGCR 
       610        620        630        640        650
EAQHDSYVGL GPAAIALMIL AFLLLLLVPL LLLMCHCGKG AKGFTPIPGT 
       660        670        680        690        700
IEMLHPWNNE GAPPEDKVVP SFLPVDQGGS LVGRNGVGGM AKEATMKGSS 
       710        720        730        740        750
SASIVKGQHE MSEMDGRWEE HRSLLSGRAT QFTGATGAIM TTETTKTARA 
       760        770        780        790        800
TGASRDMAGA QAAAVALNEE FLRNYFTDKA ASYTEEDENH TAKDCLLVYS 
       810        820        830        840        850
QEETESLNAS IGCCSFIEGE LDDRFLDDLG LKFKTLAEVC LGQKIDINKE 
       860        870        880        890        900
IEQRQKPATE TSMNTASHSL CEQTMVNSEN TYSSGSSFPV PKSLQEANAE 
       910        920        930        940        950
KVTQEIVTER SVSSRQAQKV ATPLPDPMAS RNVIATETSY VTGSTMPPTT 
       960        970        980        990       1000
VILGPSQPQS LIVTERVYAP ASTLVDQPYA NEGTVVVTER VIQPHGGGSN 
      1010       1020       1030       1040       1050
PLEGTQHLQD VPYVMVRERE SFLAPSSGVQ PTLAMPNIAV GQNVTVTERV 
      1060       1070       1080       1090       1100
LAPASTLQSS YQIPTENSMT ARNTTVSGAG VPGPLPDFGL EESGHSNSTI 
      1110 
TTSSTRVTKH STVQHSYS                                  

Experimental Info

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	4 – 10	7	SPGRAYA → TRDRVR in CAA81226. (PubMed:8143788)Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	593 – 593	1	C → V in CAA81226. (PubMed:8143788)Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	643 – 643	1	G → A in CAA81226. (PubMed:8143788)Curated

Natural variant

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	46 – 46	1	R → Q in ARVD10. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.17 "DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy." Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P. Am. J. Hum. Genet. 79:136-142(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56.		VAR_029365
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	49 – 49	1	R → H in ARVD10. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.17 "DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy." Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P. Am. J. Hum. Genet. 79:136-142(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56. Ref.20 "Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia." Barahona-Dussault C., Benito B., Campuzano O., Iglesias A., Leung T.L., Robb L., Talajic M., Brugada R. Clin. Genet. 77:37-48(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARVD10 HIS-49, VARIANTS VAL-293; LYS-713; LYS-773 AND GLY-920. Ref.21 "Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations." Gehmlich K., Syrris P., Peskett E., Evans A., Ehler E., Asimaki A., Anastasakis A., Tsatsopoulou A., Vouliotis A.I., Stefanadis C., Saffitz J.E., Protonotarios N., McKenna W.J. Cardiovasc. Res. 90:77-87(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARVD10 HIS-49.		VAR_029366
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	56 – 56	1	V → M Associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.18 "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy." Posch M.G., Posch M.J., Geier C., Erdmann B., Mueller W., Richter A., Ruppert V., Pankuweit S., Maisch B., Perrot A., Buttgereit J., Dietz R., Haverkamp W., Ozcelik C. Mol. Genet. Metab. 95:74-80(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MET-56; GLY-158; VAL-293; LYS-713; LYS-773 AND GLY-920, INVOLVEMENT IN SUSCEPTIBILITY TO CMD1BB. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56. Corresponds to variant rs121913013 [ dbSNP | Ensembl ].		VAR_062387
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	89 – 89	1	Y → C. Corresponds to variant rs2230232 [ dbSNP | Ensembl ].		VAR_048508
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	158 – 158	1	V → G.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.18 "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy." Posch M.G., Posch M.J., Geier C., Erdmann B., Mueller W., Richter A., Ruppert V., Pankuweit S., Maisch B., Perrot A., Buttgereit J., Dietz R., Haverkamp W., Ozcelik C. Mol. Genet. Metab. 95:74-80(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MET-56; GLY-158; VAL-293; LYS-713; LYS-773 AND GLY-920, INVOLVEMENT IN SUSCEPTIBILITY TO CMD1BB. Corresponds to variant rs191143292 [ dbSNP | Ensembl ].		VAR_062388
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	293 – 293	1	I → V.2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.18 "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy." Posch M.G., Posch M.J., Geier C., Erdmann B., Mueller W., Richter A., Ruppert V., Pankuweit S., Maisch B., Perrot A., Buttgereit J., Dietz R., Haverkamp W., Ozcelik C. Mol. Genet. Metab. 95:74-80(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MET-56; GLY-158; VAL-293; LYS-713; LYS-773 AND GLY-920, INVOLVEMENT IN SUSCEPTIBILITY TO CMD1BB. Ref.20 "Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia." Barahona-Dussault C., Benito B., Campuzano O., Iglesias A., Leung T.L., Robb L., Talajic M., Brugada R. Clin. Genet. 77:37-48(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARVD10 HIS-49, VARIANTS VAL-293; LYS-713; LYS-773 AND GLY-920. Corresponds to variant rs2230234 [ dbSNP | Ensembl ].		VAR_048509
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	335 – 335	1	T → A in ARVD10. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56. Corresponds to variant rs191564916 [ dbSNP | Ensembl ].		VAR_065686
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	507 – 507	1	C → Y in ARVD10. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.17 "DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy." Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P. Am. J. Hum. Genet. 79:136-142(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56.		VAR_029367
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	515 – 515	1	V → I. Corresponds to variant rs2230235 [ dbSNP | Ensembl ].		VAR_048510
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	713 – 713	1	E → K.2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.18 "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy." Posch M.G., Posch M.J., Geier C., Erdmann B., Mueller W., Richter A., Ruppert V., Pankuweit S., Maisch B., Perrot A., Buttgereit J., Dietz R., Haverkamp W., Ozcelik C. Mol. Genet. Metab. 95:74-80(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MET-56; GLY-158; VAL-293; LYS-713; LYS-773 AND GLY-920, INVOLVEMENT IN SUSCEPTIBILITY TO CMD1BB. Ref.20 "Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia." Barahona-Dussault C., Benito B., Campuzano O., Iglesias A., Leung T.L., Robb L., Talajic M., Brugada R. Clin. Genet. 77:37-48(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARVD10 HIS-49, VARIANTS VAL-293; LYS-713; LYS-773 AND GLY-920. Corresponds to variant rs79241126 [ dbSNP | Ensembl ].		VAR_062389
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	773 – 773	1	R → K.2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.18 "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy." Posch M.G., Posch M.J., Geier C., Erdmann B., Mueller W., Richter A., Ruppert V., Pankuweit S., Maisch B., Perrot A., Buttgereit J., Dietz R., Haverkamp W., Ozcelik C. Mol. Genet. Metab. 95:74-80(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MET-56; GLY-158; VAL-293; LYS-713; LYS-773 AND GLY-920, INVOLVEMENT IN SUSCEPTIBILITY TO CMD1BB. Ref.20 "Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia." Barahona-Dussault C., Benito B., Campuzano O., Iglesias A., Leung T.L., Robb L., Talajic M., Brugada R. Clin. Genet. 77:37-48(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARVD10 HIS-49, VARIANTS VAL-293; LYS-713; LYS-773 AND GLY-920. Corresponds to variant rs2278792 [ dbSNP | Ensembl ].		VAR_048511
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	812 – 812	1	G → C in ARVD10. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.17 "DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy." Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P. Am. J. Hum. Genet. 79:136-142(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812. Ref.19 "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P. Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56.		VAR_029368
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	863 – 863	1	M → L. Corresponds to variant rs16962093 [ dbSNP | Ensembl ].		VAR_048512
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	903 – 903	1	T → I. Corresponds to variant rs34065672 [ dbSNP | Ensembl ].		VAR_048513
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	920 – 920	1	V → G.2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.18 "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy." Posch M.G., Posch M.J., Geier C., Erdmann B., Mueller W., Richter A., Ruppert V., Pankuweit S., Maisch B., Perrot A., Buttgereit J., Dietz R., Haverkamp W., Ozcelik C. Mol. Genet. Metab. 95:74-80(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MET-56; GLY-158; VAL-293; LYS-713; LYS-773 AND GLY-920, INVOLVEMENT IN SUSCEPTIBILITY TO CMD1BB. Ref.20 "Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia." Barahona-Dussault C., Benito B., Campuzano O., Iglesias A., Leung T.L., Robb L., Talajic M., Brugada R. Clin. Genet. 77:37-48(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARVD10 HIS-49, VARIANTS VAL-293; LYS-713; LYS-773 AND GLY-920. Corresponds to variant rs142841727 [ dbSNP | Ensembl ].		VAR_062390

Sequence databases

Genome annotation databases

Polymorphism databases

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityⁱ

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p> Cross-referencesⁱ

<p>Provides links to various web resources that are relevant for a specific protein.</p><p><a href='../manual/web_resource' target='_top'>More...</a></p> Web resourcesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Contains the literature citations that are the sources of data used to annotate the entry. Each reference is numbered and contains several subsections allowing a precise description of a given citation.</p><p><a href='../manual/publications_section' target='_top'>More...</a></p>Publicationsⁱ

1. "Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins."
   Schaefer S., Koch P.J., Franke W.W.
   Exp. Cell Res. 211:391-399(1994) [PubMed] [Europe PMC] [Abstract]
   Cited for: NUCLEOTIDE SEQUENCE [MRNA].
   Tissue: Colon carcinoma.
   
2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
   The MGC Project Team
   Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
   Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
3. "Complete amino acid sequence of the epidermal desmoglein precursor polypeptide and identification of a second type of desmoglein gene."
   Koch P.J., Goldschmidt M.D., Walsh M.J., Zimbelmann R., Franke W.W.
   Eur. J. Cell Biol. 55:200-208(1991) [PubMed] [Europe PMC] [Abstract]
   Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 778-1118.
4. "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
   Zhang H., Li X.-J., Martin D.B., Aebersold R.
   Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract]
   Cited for: GLYCOSYLATION AT ASN-112.
5. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
   Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
   J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
   Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-182.
   Tissue: Plasma.
   
6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
   Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
   Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
   Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
   Tissue: Cervix carcinoma.
   
7. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
   Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
   Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
   Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
   Tissue: Cervix carcinoma.
   
8. "A quantitative atlas of mitotic phosphorylation."
   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
   Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
   Tissue: Cervix carcinoma.
   
9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
   Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
   J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
   Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-112 AND ASN-182.
   Tissue: Liver.
   
10. "A strategy for precise and large scale identification of core fucosylated glycoproteins."
    Jia W., Lu Z., Fu Y., Wang H.P., Wang L.H., Chi H., Yuan Z.F., Zheng Z.B., Song L.N., Han H.H., Liang Y.M., Wang J.L., Cai Y., Zhang Y.K., Deng Y.L., Ying W.T., He S.M., Qian X.H.
    Mol. Cell. Proteomics 8:913-923(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-462.
11. "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
    Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
    Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-182 AND ASN-462.
    Tissue: Leukemic T-cell.
    
12. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
    
13. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680 AND SER-1118, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
    
14. "Initial characterization of the human central proteome."
    Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
    BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
15. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680 AND SER-703, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
16. "Solution structure of the first cadherin domain from human desmoglein-2."
    RIKEN structural genomics initiative (RSGI)
    Submitted (OCT-2007) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 47-162.
17. "DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy."
    Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P.
    Am. J. Hum. Genet. 79:136-142(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812.
18. "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy."
    Posch M.G., Posch M.J., Geier C., Erdmann B., Mueller W., Richter A., Ruppert V., Pankuweit S., Maisch B., Perrot A., Buttgereit J., Dietz R., Haverkamp W., Ozcelik C.
    Mol. Genet. Metab. 95:74-80(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MET-56; GLY-158; VAL-293; LYS-713; LYS-773 AND GLY-920, INVOLVEMENT IN SUSCEPTIBILITY TO CMD1BB.
19. "Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy."
    den Haan A.D., Tan B.Y., Zikusoka M.N., Llado L.I., Jain R., Daly A., Tichnell C., James C., Amat-Alarcon N., Abraham T., Russell S.D., Bluemke D.A., Calkins H., Dalal D., Judge D.P.
    Circ. Cardiovasc. Genet. 2:428-435(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARVD10 GLN-46; HIS-49; ALA-335; TYR-507 AND CYS-812, VARIANT MET-56.
20. "Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia."
    Barahona-Dussault C., Benito B., Campuzano O., Iglesias A., Leung T.L., Robb L., Talajic M., Brugada R.
    Clin. Genet. 77:37-48(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARVD10 HIS-49, VARIANTS VAL-293; LYS-713; LYS-773 AND GLY-920.
21. "Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations."
    Gehmlich K., Syrris P., Peskett E., Evans A., Ehler E., Asimaki A., Anastasakis A., Tsatsopoulou A., Vouliotis A.I., Stefanadis C., Saffitz J.E., Protonotarios N., McKenna W.J.
    Cardiovasc. Res. 90:77-87(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARVD10 HIS-49.

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Technical termⁱ

Documents

1. Human chromosome 18
   Human chromosome 18: entries, gene names and cross-references to MIM
2. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations
3. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
5. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references
6. SIMILARITY comments
   Index of protein domains and families

External Data

<p>Provides links to the UniProt Reference Clusters (<a href="/help/uniref">UniRef</a>). UniRef consists of clusters for UniProtKB sequences (including isoforms) and selected UniParc sequences, in order to obtain complete coverage of the sequence space at resolutions of 100%, 90% and 50% identity.</p><p><a href='../manual/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ