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UniProtKB - Q14126 (DSG2_HUMAN)

UniProt

Q14126 - DSG2_HUMAN

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Protein

Desmoglein-2

Gene

DSG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • cell adhesion molecule binding Source: BHF-UCL
  • cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication Source: BHF-UCL

GO - Biological processi

  • bundle of His cell-Purkinje myocyte adhesion involved in cell communication Source: BHF-UCL
  • cell adhesion Source: UniProtKB
  • desmosome organization Source: BHF-UCL
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: BHF-UCL
  • maternal process involved in female pregnancy Source: Ensembl
  • Purkinje myocyte development Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL
  • response to progesterone Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-351906. Apoptotic cleavage of cell adhesion proteins.

Names & Taxonomyi

Protein namesi
Recommended name:
Desmoglein-2
Alternative name(s):
Cadherin family member 5
HDGC
Gene namesi
Name:DSG2
Synonyms:CDHF5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:3049. DSG2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini50 – 609560ExtracellularSequence analysisAdd
BLAST
Transmembranei610 – 63425HelicalSequence analysisAdd
BLAST
Topological domaini635 – 1118484CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • cell-cell junction Source: ProtInc
  • cell surface Source: UniProtKB
  • desmosome Source: BHF-UCL
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • intercalated disc Source: BHF-UCL
  • lateral plasma membrane Source: Ensembl
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610193
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461R → Q in ARVD10. 2 Publications
Corresponds to variant rs121913008 [ dbSNP | Ensembl ].		VAR_029365
Natural varianti49 – 491R → H in ARVD10. 4 Publications
Corresponds to variant rs121913006 [ dbSNP | Ensembl ].		VAR_029366
Natural varianti56 – 561V → M Associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy. 2 Publications
Corresponds to variant rs121913013 [ dbSNP | Ensembl ].		VAR_062387
Natural varianti335 – 3351T → A in ARVD10. 1 Publication
Corresponds to variant rs191564916 [ dbSNP | Ensembl ].		VAR_065686
Natural varianti507 – 5071C → Y in ARVD10. 2 Publications
Corresponds to variant rs121913009 [ dbSNP | Ensembl ].		VAR_029367
Natural varianti812 – 8121G → C in ARVD10. 2 Publications
Corresponds to variant rs121913010 [ dbSNP | Ensembl ].		VAR_029368
Cardiomyopathy, dilated 1BB (CMD1BB)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:612877
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561V → M Associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy. 2 Publications
Corresponds to variant rs121913013 [ dbSNP | Ensembl ].		VAR_062387

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MalaCardsiDSG2.
MIMi610193. phenotype.
612877. phenotype.
Orphaneti293899. Familial isolated arrhythmogenic ventricular dysplasia, biventricular form.
293888. Familial isolated arrhythmogenic ventricular dysplasia, left dominant form.
293910. Familial isolated arrhythmogenic ventricular dysplasia, right dominant form.
154. Familial isolated dilated cardiomyopathy.
PharmGKBiPA27502.

Polymorphism and mutation databases

BioMutaiDSG2.
DMDMi148876773.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence analysisAdd
BLAST
Propeptidei24 – 4926Sequence analysisPRO_0000003845Add
BLAST
Chaini50 – 11181069Desmoglein-2PRO_0000003846Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi112 – 1121N-linked (GlcNAc...)2 Publications
Glycosylationi182 – 1821N-linked (GlcNAc...)3 Publications
Glycosylationi309 – 3091N-linked (GlcNAc...)Sequence analysis
Glycosylationi462 – 4621N-linked (GlcNAc...) (complex)2 Publications
Glycosylationi514 – 5141N-linked (GlcNAc...)Sequence analysis
Modified residuei680 – 6801PhosphoserineCombined sources
Modified residuei700 – 7001PhosphoserineCombined sources
Modified residuei703 – 7031PhosphoserineCombined sources
Modified residuei723 – 7231PhosphoserineCombined sources
Modified residuei726 – 7261PhosphoserineCombined sources
Modified residuei804 – 8041PhosphothreonineCombined sources
Modified residuei806 – 8061PhosphoserineCombined sources
Modified residuei810 – 8101PhosphoserineCombined sources
Modified residuei815 – 8151PhosphoserineCombined sources
Modified residuei922 – 9221PhosphothreonineCombined sources
Modified residuei1118 – 11181PhosphoserineCombined sources

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ14126.
MaxQBiQ14126.
PaxDbiQ14126.
PeptideAtlasiQ14126.
PRIDEiQ14126.

PTM databases

iPTMnetiQ14126.
PhosphoSiteiQ14126.
SwissPalmiQ14126.

Miscellaneous databases

PMAP-CutDBQ14126.

Expressioni

Tissue specificityi

All of the tissues tested and carcinomas.

Gene expression databases

BgeeiENSG00000046604.
CleanExiHS_DSG2.
ExpressionAtlasiQ14126. baseline and differential.
GenevisibleiQ14126. HS.

Organism-specific databases

HPAiCAB025122.
HPA004896.

Interactioni

GO - Molecular functioni

  • cell adhesion molecule binding Source: BHF-UCL
  • cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication Source: BHF-UCL

Protein-protein interaction databases

BioGridi108163. 47 interactions.
DIPiDIP-46250N.
IntActiQ14126. 32 interactions.
MINTiMINT-4990532.
STRINGi9606.ENSP00000261590.

Structurei

Secondary structure

1
1118
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi56 – 627Combined sources
Helixi77 – 815Combined sources
Beta strandi86 – 916Combined sources
Turni92 – 943Combined sources
Beta strandi95 – 984Combined sources
Beta strandi100 – 1056Combined sources
Turni106 – 1094Combined sources
Beta strandi110 – 1134Combined sources
Turni119 – 1213Combined sources
Beta strandi122 – 13211Combined sources
Beta strandi138 – 1436Combined sources
Beta strandi146 – 1505Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2YQGNMR-A47-162[»]
5ERDX-ray2.90A/B50-602[»]
5J5JX-ray3.29A152-601[»]
ProteinModelPortaliQ14126.
SMRiQ14126. Positions 47-162.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14126.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini50 – 160111Cadherin 1PROSITE-ProRule annotationAdd
BLAST
Domaini161 – 273113Cadherin 2PROSITE-ProRule annotationAdd
BLAST
Domaini274 – 388115Cadherin 3PROSITE-ProRule annotationAdd
BLAST
Domaini389 – 503115Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Repeati881 – 91232Desmoglein repeat 1Add
BLAST
Repeati913 – 94230Desmoglein repeat 2Add
BLAST
Repeati943 – 96826Desmoglein repeat 3Add
BLAST
Repeati969 – 99224Desmoglein repeat 4Add
BLAST
Repeati993 – 102129Desmoglein repeat 5Add
BLAST
Repeati1022 – 105130Desmoglein repeat 6Add
BLAST

Domaini

Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.By similarity

Sequence similaritiesi

Contains 4 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000236266.
HOVERGENiHBG005532.
InParanoidiQ14126.
KOiK07597.
OMAiVMVRERE.
OrthoDBiEOG091G01F3.
PhylomeDBiQ14126.
TreeFamiTF331809.

Family and domain databases

Gene3Di2.60.40.60. 4 hits.
4.10.900.10. 1 hit.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR027397. Catenin_binding_dom.
IPR009123. Desmoglein.
IPR009122. Desmosomal_cadherin.
[Graphical view]
PANTHERiPTHR24025. PTHR24025. 1 hit.
PfamiPF00028. Cadherin. 3 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01819. DESMOGLEIN.
SMARTiSM00112. CA. 4 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 5 hits.
PROSITEiPS00232. CADHERIN_1. 3 hits.
PS50268. CADHERIN_2. 4 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q14126-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:1,118
Mass (Da):122,294
Last modified:May 29, 2007 - v2
Checksum:iE1481AA1686DB80A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti4 – 107SPGRAYA → TRDRVR in CAA81226 (PubMed:8143788).Curated
Sequence conflicti593 – 5931C → V in CAA81226 (PubMed:8143788).Curated
Sequence conflicti643 – 6431G → A in CAA81226 (PubMed:8143788).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461R → Q in ARVD10. 2 Publications
Corresponds to variant rs121913008 [ dbSNP | Ensembl ].		VAR_029365
Natural varianti49 – 491R → H in ARVD10. 4 Publications
Corresponds to variant rs121913006 [ dbSNP | Ensembl ].		VAR_029366
Natural varianti56 – 561V → M Associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy. 2 Publications
Corresponds to variant rs121913013 [ dbSNP | Ensembl ].		VAR_062387
Natural varianti89 – 891Y → C.
Corresponds to variant rs2230232 [ dbSNP | Ensembl ].		VAR_048508
Natural varianti158 – 1581V → G.1 Publication
Corresponds to variant rs191143292 [ dbSNP | Ensembl ].		VAR_062388
Natural varianti293 – 2931I → V.2 Publications
Corresponds to variant rs2230234 [ dbSNP | Ensembl ].		VAR_048509
Natural varianti335 – 3351T → A in ARVD10. 1 Publication
Corresponds to variant rs191564916 [ dbSNP | Ensembl ].		VAR_065686
Natural varianti507 – 5071C → Y in ARVD10. 2 Publications
Corresponds to variant rs121913009 [ dbSNP | Ensembl ].		VAR_029367
Natural varianti515 – 5151V → I.
Corresponds to variant rs2230235 [ dbSNP | Ensembl ].		VAR_048510
Natural varianti713 – 7131E → K.2 Publications
Corresponds to variant rs79241126 [ dbSNP | Ensembl ].		VAR_062389
Natural varianti773 – 7731R → K.2 Publications
Corresponds to variant rs2278792 [ dbSNP | Ensembl ].		VAR_048511
Natural varianti812 – 8121G → C in ARVD10. 2 Publications
Corresponds to variant rs121913010 [ dbSNP | Ensembl ].		VAR_029368
Natural varianti863 – 8631M → L.
Corresponds to variant rs16962093 [ dbSNP | Ensembl ].		VAR_048512
Natural varianti903 – 9031T → I.
Corresponds to variant rs34065672 [ dbSNP | Ensembl ].		VAR_048513
Natural varianti920 – 9201V → G.2 Publications
Corresponds to variant rs142841727 [ dbSNP | Ensembl ].		VAR_062390

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z26317 mRNA. Translation: CAA81226.1.
BC099655 mRNA. Translation: AAH99655.1.
BC099656 mRNA. Translation: AAH99656.1.
BC099657 mRNA. Translation: AAH99657.1.
CCDSiCCDS42423.1.
PIRiS38673.
RefSeqiNP_001934.2. NM_001943.4.
UniGeneiHs.412597.

Genome annotation databases

EnsembliENST00000261590; ENSP00000261590; ENSG00000046604.
GeneIDi1829.
KEGGihsa:1829.
UCSCiuc002kwu.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z26317 mRNA. Translation: CAA81226.1.
BC099655 mRNA. Translation: AAH99655.1.
BC099656 mRNA. Translation: AAH99656.1.
BC099657 mRNA. Translation: AAH99657.1.
CCDSiCCDS42423.1.
PIRiS38673.
RefSeqiNP_001934.2. NM_001943.4.
UniGeneiHs.412597.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2YQGNMR-A47-162[»]
5ERDX-ray2.90A/B50-602[»]
5J5JX-ray3.29A152-601[»]
ProteinModelPortaliQ14126.
SMRiQ14126. Positions 47-162.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108163. 47 interactions.
DIPiDIP-46250N.
IntActiQ14126. 32 interactions.
MINTiMINT-4990532.
STRINGi9606.ENSP00000261590.

PTM databases

iPTMnetiQ14126.
PhosphoSiteiQ14126.
SwissPalmiQ14126.

Polymorphism and mutation databases

BioMutaiDSG2.
DMDMi148876773.

Proteomic databases

EPDiQ14126.
MaxQBiQ14126.
PaxDbiQ14126.
PeptideAtlasiQ14126.
PRIDEiQ14126.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261590; ENSP00000261590; ENSG00000046604.
GeneIDi1829.
KEGGihsa:1829.
UCSCiuc002kwu.5. human.

Organism-specific databases

CTDi1829.
GeneCardsiDSG2.
GeneReviewsiDSG2.
H-InvDBHIX0039840.
HGNCiHGNC:3049. DSG2.
HPAiCAB025122.
HPA004896.
MalaCardsiDSG2.
MIMi125671. gene.
610193. phenotype.
612877. phenotype.
neXtProtiNX_Q14126.
Orphaneti293899. Familial isolated arrhythmogenic ventricular dysplasia, biventricular form.
293888. Familial isolated arrhythmogenic ventricular dysplasia, left dominant form.
293910. Familial isolated arrhythmogenic ventricular dysplasia, right dominant form.
154. Familial isolated dilated cardiomyopathy.
PharmGKBiPA27502.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00760000118906.
HOGENOMiHOG000236266.
HOVERGENiHBG005532.
InParanoidiQ14126.
KOiK07597.
OMAiVMVRERE.
OrthoDBiEOG091G01F3.
PhylomeDBiQ14126.
TreeFamiTF331809.

Enzyme and pathway databases

ReactomeiR-HSA-351906. Apoptotic cleavage of cell adhesion proteins.

Miscellaneous databases

ChiTaRSiDSG2. human.
EvolutionaryTraceiQ14126.
GeneWikiiDesmoglein_2.
GenomeRNAii1829.
PMAP-CutDBQ14126.
PROiQ14126.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000046604.
CleanExiHS_DSG2.
ExpressionAtlasiQ14126. baseline and differential.
GenevisibleiQ14126. HS.

Family and domain databases

Gene3Di2.60.40.60. 4 hits.
4.10.900.10. 1 hit.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR027397. Catenin_binding_dom.
IPR009123. Desmoglein.
IPR009122. Desmosomal_cadherin.
[Graphical view]
PANTHERiPTHR24025. PTHR24025. 1 hit.
PfamiPF00028. Cadherin. 3 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01819. DESMOGLEIN.
SMARTiSM00112. CA. 4 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 5 hits.
PROSITEiPS00232. CADHERIN_1. 3 hits.
PS50268. CADHERIN_2. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDSG2_HUMAN
AccessioniPrimary (citable) accession number: Q14126
Secondary accession number(s): Q4KKU6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 29, 2007
Last modified: September 7, 2016
This is version 160 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.