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Entry version 201 (10 Apr 2019)
Sequence version 3 (26 May 2009)
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Protein

Fibrillin-2

Gene

FBN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

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

Fibrillin-2: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.By similarity

<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><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/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>Keywordsi

LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1566948 Elastic fibre formation
R-HSA-2129379 Molecules associated with elastic fibres

<p>This section 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><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fibrillin-2
Cleaved into the following chain:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FBN2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000138829.10

Human Gene Nomenclature Database

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HGNCi
HGNC:3604 FBN2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612570 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P35556

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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section 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">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Arthrogryposis, distal, 9 (DA9)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA9 is a connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears.
See also OMIM:121050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015851391E → K in DA9. Corresponds to variant dbSNP:rs137852826EnsemblClinVar.1
Natural variantiVAR_058364754G → S in DA9. 1 PublicationCorresponds to variant dbSNP:rs145259927EnsemblClinVar.1
Natural variantiVAR_0549811057G → D in DA9. 2 Publications1
Natural variantiVAR_0583651091N → S in DA9. 1 Publication1
Natural variantiVAR_0549821093I → T in DA9. 2 Publications1
Natural variantiVAR_0107391115D → H in DA9; the underlying nucleotide substitution also causes low level in-frame mis-splicing of exon 25. 2 PublicationsCorresponds to variant dbSNP:rs137852827EnsemblClinVar.1
Natural variantiVAR_0583661122S → P in DA9. 1 Publication1
Natural variantiVAR_0107401142C → F in DA9. 2 PublicationsCorresponds to variant dbSNP:rs137852828EnsemblClinVar.1
Natural variantiVAR_0583671142C → R in DA9. 1 Publication1
Natural variantiVAR_0583681146Y → C in DA9. 1 Publication1
Natural variantiVAR_0583691156C → F in DA9. 1 PublicationCorresponds to variant dbSNP:rs1206843725EnsemblClinVar.1
Natural variantiVAR_0583701161E → K in DA9. 1 Publication1
Natural variantiVAR_0549831179G → C in DA9. 1 Publication1
Natural variantiVAR_0549841198C → Y in DA9. 1 PublicationCorresponds to variant dbSNP:rs863223567EnsemblClinVar.1
Natural variantiVAR_0549851240C → R in DA9. 1 Publication1
Natural variantiVAR_0583711246C → F in DA9. 1 Publication1
Natural variantiVAR_0107411253C → W in DA9. 2 PublicationsCorresponds to variant dbSNP:rs28931602EnsemblClinVar.1
Natural variantiVAR_0023501253C → Y in DA9. 2 PublicationsCorresponds to variant dbSNP:rs137852825EnsemblClinVar.1
Natural variantiVAR_0764821257C → R in DA9. 1 Publication1
Natural variantiVAR_0549861257C → W in DA9. 1 Publication1
Natural variantiVAR_0726531259N → K in DA9. 1 PublicationCorresponds to variant dbSNP:rs267606802EnsemblClinVar.1
Natural variantiVAR_0549871268C → R in DA9. 1 Publication1
Natural variantiVAR_0583721384C → F in DA9. 1 Publication1
Natural variantiVAR_0583731384C → Y in DA9. 1 PublicationCorresponds to variant dbSNP:rs794727560EnsemblClinVar.1
Natural variantiVAR_0740521406C → R in DA9. 1 Publication1
Natural variantiVAR_0583741408D → N in DA9. 1 Publication1
Natural variantiVAR_0583751425C → R in DA9. 1 Publication1
Natural variantiVAR_0023511434C → S in DA9. 2 Publications1
Macular degeneration, early-onset (EOMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular disorder characterized by macular changes resulting in progressive loss of visual acuity.
See also OMIM:616118
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0726511144E → K in EOMD. 1 PublicationCorresponds to variant dbSNP:rs200060005EnsemblClinVar.1
Natural variantiVAR_0726521247M → T in EOMD. 1 PublicationCorresponds to variant dbSNP:rs149054177EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
2201

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
FBN2

MalaCards human disease database

More...
MalaCardsi
FBN2
MIMi121050 phenotype
616118 phenotype

Open Targets

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OpenTargetsi
ENSG00000138829

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
115 Congenital contractural arachnodactyly
279 NON RARE IN EUROPE: Age-related macular degeneration

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28017

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FBN2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
238054385

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 28Sequence analysisAdd BLAST28
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section 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><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000043688729 – 77CuratedAdd BLAST49
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000758478 – 2779Fibrillin-2CuratedAdd BLAST2702
ChainiPRO_00004368882780 – 2912Fibrillin-2 C-terminal peptideBy similarityAdd BLAST133

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi115 ↔ 124PROSITE-ProRule annotation
Disulfide bondi119 ↔ 130PROSITE-ProRule annotation
Disulfide bondi132 ↔ 141PROSITE-ProRule annotation
Disulfide bondi149 ↔ 159PROSITE-ProRule annotation
Disulfide bondi153 ↔ 164PROSITE-ProRule annotation
Disulfide bondi166 ↔ 175PROSITE-ProRule annotation
Disulfide bondi180 ↔ 190PROSITE-ProRule annotation
Disulfide bondi184 ↔ 196PROSITE-ProRule annotation
Disulfide bondi198 ↔ 207PROSITE-ProRule annotation
Disulfide bondi280 ↔ 292PROSITE-ProRule annotation
Disulfide bondi287 ↔ 301PROSITE-ProRule annotation
Disulfide bondi303 ↔ 316PROSITE-ProRule annotation
Disulfide bondi322 ↔ 334PROSITE-ProRule annotation
Disulfide bondi329 ↔ 343PROSITE-ProRule annotation
Disulfide bondi345 ↔ 358PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi492N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi498 ↔ 510PROSITE-ProRule annotation
Disulfide bondi505 ↔ 519PROSITE-ProRule annotation
Disulfide bondi521 ↔ 533PROSITE-ProRule annotation
Disulfide bondi539 ↔ 549PROSITE-ProRule annotation
Disulfide bondi544 ↔ 558PROSITE-ProRule annotation
Disulfide bondi560 ↔ 573PROSITE-ProRule annotation
Disulfide bondi579 ↔ 591PROSITE-ProRule annotation
Disulfide bondi586 ↔ 600PROSITE-ProRule annotation
Disulfide bondi602 ↔ 615PROSITE-ProRule annotation
Disulfide bondi621 ↔ 632PROSITE-ProRule annotation
Disulfide bondi627 ↔ 641PROSITE-ProRule annotation
Disulfide bondi643 ↔ 656PROSITE-ProRule annotation
Disulfide bondi662 ↔ 673PROSITE-ProRule annotation
Disulfide bondi668 ↔ 682PROSITE-ProRule annotation
Disulfide bondi684 ↔ 697PROSITE-ProRule annotation
Disulfide bondi772 ↔ 784PROSITE-ProRule annotation
Disulfide bondi779 ↔ 793PROSITE-ProRule annotation
Disulfide bondi795 ↔ 808PROSITE-ProRule annotation
Disulfide bondi814 ↔ 826PROSITE-ProRule annotation
Disulfide bondi821 ↔ 835PROSITE-ProRule annotation
Disulfide bondi837 ↔ 850PROSITE-ProRule annotation
Disulfide bondi856 ↔ 866PROSITE-ProRule annotation
Disulfide bondi861 ↔ 875PROSITE-ProRule annotation
Disulfide bondi877 ↔ 890PROSITE-ProRule annotation
Disulfide bondi959 ↔ 971PROSITE-ProRule annotation
Disulfide bondi966 ↔ 980PROSITE-ProRule annotation
Disulfide bondi982 ↔ 995PROSITE-ProRule annotation
Disulfide bondi1077 ↔ 1089PROSITE-ProRule annotation
Disulfide bondi1084 ↔ 1098PROSITE-ProRule annotation
Disulfide bondi1100 ↔ 1113PROSITE-ProRule annotation
Glycosylationi1112N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi1119 ↔ 1131PROSITE-ProRule annotation
Disulfide bondi1126 ↔ 1140PROSITE-ProRule annotation
Disulfide bondi1142 ↔ 1156PROSITE-ProRule annotation
Disulfide bondi1162 ↔ 1174PROSITE-ProRule annotation
Disulfide bondi1169 ↔ 1183PROSITE-ProRule annotation
Disulfide bondi1185 ↔ 1198PROSITE-ProRule annotation
Disulfide bondi1204 ↔ 1216PROSITE-ProRule annotation
Disulfide bondi1211 ↔ 1225PROSITE-ProRule annotation
Disulfide bondi1227 ↔ 1240PROSITE-ProRule annotation
Disulfide bondi1246 ↔ 1257PROSITE-ProRule annotation
Disulfide bondi1253 ↔ 1266PROSITE-ProRule annotation
Disulfide bondi1268 ↔ 1281PROSITE-ProRule annotation
Disulfide bondi1287 ↔ 1299PROSITE-ProRule annotation
Disulfide bondi1294 ↔ 1308PROSITE-ProRule annotation
Disulfide bondi1310 ↔ 1323PROSITE-ProRule annotation
Disulfide bondi1329 ↔ 1341PROSITE-ProRule annotation
Disulfide bondi1336 ↔ 1350PROSITE-ProRule annotation
Disulfide bondi1352 ↔ 1365PROSITE-ProRule annotation
Disulfide bondi1371 ↔ 1384PROSITE-ProRule annotation
Disulfide bondi1378 ↔ 1393PROSITE-ProRule annotation
Disulfide bondi1395 ↔ 1406PROSITE-ProRule annotation
Disulfide bondi1412 ↔ 1425PROSITE-ProRule annotation
Glycosylationi1414N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1419 ↔ 1434PROSITE-ProRule annotation
Disulfide bondi1436 ↔ 1447PROSITE-ProRule annotation
Disulfide bondi1453 ↔ 1465PROSITE-ProRule annotation
Disulfide bondi1460 ↔ 1474PROSITE-ProRule annotation
Disulfide bondi1476 ↔ 1489PROSITE-ProRule annotation
Disulfide bondi1495 ↔ 1506PROSITE-ProRule annotation
Disulfide bondi1501 ↔ 1515PROSITE-ProRule annotation
Disulfide bondi1517 ↔ 1530PROSITE-ProRule annotation
Glycosylationi1529N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1536 ↔ 1547PROSITE-ProRule annotation
Disulfide bondi1542 ↔ 1556PROSITE-ProRule annotation
Disulfide bondi1558 ↔ 1571PROSITE-ProRule annotation
Glycosylationi1625N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1654 ↔ 1666PROSITE-ProRule annotation
Disulfide bondi1661 ↔ 1675PROSITE-ProRule annotation
Disulfide bondi1677 ↔ 1690PROSITE-ProRule annotation
Disulfide bondi1696 ↔ 1708PROSITE-ProRule annotation
Disulfide bondi1703 ↔ 1717PROSITE-ProRule annotation
Glycosylationi1714N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1719 ↔ 1732PROSITE-ProRule annotation
Glycosylationi1745N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1756N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1812 ↔ 1824PROSITE-ProRule annotation
Disulfide bondi1819 ↔ 1833PROSITE-ProRule annotation
Disulfide bondi1835 ↔ 1848PROSITE-ProRule annotation
Disulfide bondi1854 ↔ 1867PROSITE-ProRule annotation
Disulfide bondi1861 ↔ 1876PROSITE-ProRule annotation
Disulfide bondi1878 ↔ 1890PROSITE-ProRule annotation
Disulfide bondi1896 ↔ 1908PROSITE-ProRule annotation
Disulfide bondi1903 ↔ 1917PROSITE-ProRule annotation
Disulfide bondi1919 ↔ 1932PROSITE-ProRule annotation
Disulfide bondi1938 ↔ 1948PROSITE-ProRule annotation
Disulfide bondi1943 ↔ 1957PROSITE-ProRule annotation
Glycosylationi1945N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1959 ↔ 1971PROSITE-ProRule annotation
Disulfide bondi1977 ↔ 1990PROSITE-ProRule annotation
Disulfide bondi1985 ↔ 1999PROSITE-ProRule annotation
Disulfide bondi2001 ↔ 2014PROSITE-ProRule annotation
Disulfide bondi2020 ↔ 2032PROSITE-ProRule annotation
Disulfide bondi2027 ↔ 2041PROSITE-ProRule annotation
Disulfide bondi2043 ↔ 2054PROSITE-ProRule annotation
Disulfide bondi2060 ↔ 2072PROSITE-ProRule annotation
Disulfide bondi2067 ↔ 2081PROSITE-ProRule annotation
Disulfide bondi2083 ↔ 2096PROSITE-ProRule annotation
Glycosylationi2120N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2175 ↔ 2187PROSITE-ProRule annotation
Disulfide bondi2182 ↔ 2196PROSITE-ProRule annotation
Disulfide bondi2198 ↔ 2211PROSITE-ProRule annotation
Disulfide bondi2217 ↔ 2228PROSITE-ProRule annotation
Disulfide bondi2223 ↔ 2237PROSITE-ProRule annotation
Glycosylationi2225N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2239 ↔ 2251PROSITE-ProRule annotation
Disulfide bondi2257 ↔ 2268PROSITE-ProRule annotation
Disulfide bondi2264 ↔ 2277PROSITE-ProRule annotation
Disulfide bondi2279 ↔ 2292PROSITE-ProRule annotation
Disulfide bondi2298 ↔ 2312PROSITE-ProRule annotation
Disulfide bondi2305 ↔ 2321PROSITE-ProRule annotation
Disulfide bondi2323 ↔ 2336PROSITE-ProRule annotation
Disulfide bondi2342 ↔ 2354PROSITE-ProRule annotation
Disulfide bondi2349 ↔ 2363PROSITE-ProRule annotation
Disulfide bondi2365 ↔ 2378PROSITE-ProRule annotation
Disulfide bondi2453 ↔ 2465PROSITE-ProRule annotation
Disulfide bondi2460 ↔ 2474PROSITE-ProRule annotation
Disulfide bondi2476 ↔ 2489PROSITE-ProRule annotation
Disulfide bondi2495 ↔ 2506PROSITE-ProRule annotation
Disulfide bondi2502 ↔ 2515PROSITE-ProRule annotation
Disulfide bondi2517 ↔ 2530PROSITE-ProRule annotation
Disulfide bondi2536 ↔ 2547PROSITE-ProRule annotation
Disulfide bondi2543 ↔ 2556PROSITE-ProRule annotation
Disulfide bondi2558 ↔ 2569PROSITE-ProRule annotation
Disulfide bondi2575 ↔ 2588PROSITE-ProRule annotation
Disulfide bondi2582 ↔ 2597PROSITE-ProRule annotation
Disulfide bondi2599 ↔ 2612PROSITE-ProRule annotation
Disulfide bondi2618 ↔ 2628PROSITE-ProRule annotation
Disulfide bondi2624 ↔ 2637PROSITE-ProRule annotation
Disulfide bondi2639 ↔ 2652PROSITE-ProRule annotation
Disulfide bondi2658 ↔ 2669PROSITE-ProRule annotation
Disulfide bondi2664 ↔ 2678PROSITE-ProRule annotation
Disulfide bondi2680 ↔ 2693PROSITE-ProRule annotation
Disulfide bondi2699 ↔ 2710PROSITE-ProRule annotation
Disulfide bondi2706 ↔ 2719PROSITE-ProRule annotation
Disulfide bondi2721 ↔ 2733PROSITE-ProRule annotation
Glycosylationi2808N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P35556

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P35556

MaxQB - The MaxQuant DataBase

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MaxQBi
P35556

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P35556

PeptideAtlas

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PeptideAtlasi
P35556

PRoteomics IDEntifications database

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PRIDEi
P35556

ProteomicsDB human proteome resource

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ProteomicsDBi
55082
55083 [P35556-2]

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1236

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P35556

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P35556

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

<p>This subsection of the ‘Expression’ section 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 protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch's membrane and in the sclera. Not expressed in the neural retina.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000138829 Expressed in 146 organ(s), highest expression level in placenta

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P35556 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P35556 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB026401
HPA012853

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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with BMP2, BMP4, BMP7, BMP10 and GDF5 (PubMed:18339631). Interacts with MFAP2 and MFAP5 (PubMed:15131124). Interacts with ADAMTSL5 (PubMed:23010571). Interacts with MFAP4 (PubMed:26601954).4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108495, 25 interactors

Protein interaction database and analysis system

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IntActi
P35556, 9 interactors

Molecular INTeraction database

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MINTi
P35556

STRING: functional protein association networks

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STRINGi
9606.ENSP00000424571

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P35556

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P35556

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section 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><a href='/help/domain' target='_top'>More...</a></p>Domaini111 – 142EGF-like 1PROSITE-ProRule annotationAdd BLAST32
Domaini145 – 176EGF-like 2PROSITE-ProRule annotationAdd BLAST32
Domaini176 – 208EGF-like 3PROSITE-ProRule annotationAdd BLAST33
Domaini214 – 266TB 1Add BLAST53
Domaini276 – 317EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini318 – 359EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini364 – 417TB 2Add BLAST54
Domaini494 – 534EGF-like 6PROSITE-ProRule annotationAdd BLAST41
Domaini535 – 574EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini575 – 616EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini617 – 657EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini658 – 698EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini704 – 756TB 3Add BLAST53
Domaini768 – 809EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini810 – 851EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini852 – 891EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini896 – 947TB 4Add BLAST52
Domaini955 – 996EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1001 – 1052TB 5Add BLAST52
Domaini1073 – 1114EGF-like 15; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1115 – 1157EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini1158 – 1199EGF-like 17; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1200 – 1241EGF-like 18; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1242 – 1282EGF-like 19; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1283 – 1324EGF-like 20; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1325 – 1366EGF-like 21; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1367 – 1407EGF-like 22; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1408 – 1448EGF-like 23; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1449 – 1490EGF-like 24; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1491 – 1531EGF-like 25; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1532 – 1572EGF-like 26; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1577 – 1633TB 6Add BLAST57
Domaini1650 – 1691EGF-like 27; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1692 – 1733EGF-like 28; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1738 – 1791TB 7Add BLAST54
Domaini1808 – 1849EGF-like 29; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1850 – 1891EGF-like 30; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1892 – 1933EGF-like 31; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1934 – 1972EGF-like 32; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini1973 – 2015EGF-like 33; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini2016 – 2055EGF-like 34; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini2056 – 2097EGF-like 35; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini2102 – 2155TB 8Add BLAST54
Domaini2171 – 2212EGF-like 36; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini2213 – 2252EGF-like 37; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini2253 – 2293EGF-like 38; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini2294 – 2337EGF-like 39; calcium-bindingPROSITE-ProRule annotationAdd BLAST44
Domaini2338 – 2379EGF-like 40; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini2384 – 2437TB 9Add BLAST54
Domaini2449 – 2490EGF-like 41; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini2491 – 2531EGF-like 42; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini2532 – 2570EGF-like 43; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini2571 – 2613EGF-like 44; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini2614 – 2653EGF-like 45; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini2654 – 2694EGF-like 46; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini2695 – 2734EGF-like 47; calcium-bindingPROSITE-ProRule annotationAdd BLAST40

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni149 – 359Interaction with MFAP41 PublicationAdd BLAST211
Regioni1735 – 2171Interaction with MFAP41 PublicationAdd BLAST437

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the fibrillin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IR7H Eukaryota
ENOG410XSTY LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000183158

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231768

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005643

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P35556

Identification of Orthologs from Complete Genome Data

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OMAi
PGRCWGV

Database of Orthologous Groups

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OrthoDBi
665362at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P35556

TreeFam database of animal gene trees

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TreeFami
TF316849

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.90.290.10, 9 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026823 cEGF
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR011398 FBN
IPR040872 Fibrillin_U_N
IPR009030 Growth_fac_rcpt_cys_sf
IPR017878 TB_dom
IPR036773 TB_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR24039 PTHR24039, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF12662 cEGF, 2 hits
PF07645 EGF_CA, 39 hits
PF18193 Fibrillin_U_N, 1 hit
PF12661 hEGF, 2 hits
PF00683 TB, 9 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00181 EGF, 46 hits
SM00179 EGF_CA, 44 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57184 SSF57184, 13 hits
SSF57581 SSF57581, 9 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 43 hits
PS00022 EGF_1, 2 hits
PS01186 EGF_2, 37 hits
PS50026 EGF_3, 45 hits
PS01187 EGF_CA, 43 hits
PS51364 TB, 9 hits

<p>This section 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 <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P35556-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA
60 70 80 90 100
TAGSEGGFLA PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG
110 120 130 140 150
WKTLPGGNQC IVPICRNSCG DGFCSRPNMC TCSSGQISST CGSKSIQQCS
160 170 180 190 200
VRCMNGGTCA DDHCQCQKGY IGTYCGQPVC ENGCQNGGRC IGPNRCACVY
210 220 230 240 250
GFTGPQCERD YRTGPCFTQV NNQMCQGQLT GIVCTKTLCC ATIGRAWGHP
260 270 280 290 300
CEMCPAQPQP CRRGFIPNIR TGACQDVDEC QAIPGICQGG NCINTVGSFE
310 320 330 340 350
CRCPAGHKQS ETTQKCEDID ECSIIPGICE TGECSNTVGS YFCVCPRGYV
360 370 380 390 400
TSTDGSRCID QRTGMCFSGL VNGRCAQELP GRMTKMQCCC EPGRCWGIGT
410 420 430 440 450
IPEACPVRGS EEYRRLCMDG LPMGGIPGSA GSRPGGTGGN GFAPSGNGNG
460 470 480 490 500
YGPGGTGFIP IPGGNGFSPG VGGAGVGAGG QGPIITGLTI LNQTIDICKH
510 520 530 540 550
HANLCLNGRC IPTVSSYRCE CNMGYKQDAN GDCIDVDECT SNPCTNGDCV
560 570 580 590 600
NTPGSYYCKC HAGFQRTPTK QACIDIDECI QNGVLCKNGR CVNTDGSFQC
610 620 630 640 650
ICNAGFELTT DGKNCVDHDE CTTTNMCLNG MCINEDGSFK CICKPGFVLA
660 670 680 690 700
PNGRYCTDVD ECQTPGICMN GHCINSEGSF RCDCPPGLAV GMDGRVCVDT
710 720 730 740 750
HMRSTCYGGI KKGVCVRPFP GAVTKSECCC ANPDYGFGEP CQPCPAKNSA
760 770 780 790 800
EFHGLCSSGV GITVDGRDIN ECALDPDICA NGICENLRGS YRCNCNSGYE
810 820 830 840 850
PDASGRNCID IDECLVNRLL CDNGLCRNTP GSYSCTCPPG YVFRTETETC
860 870 880 890 900
EDINECESNP CVNGACRNNL GSFNCECSPG SKLSSTGLIC IDSLKGTCWL
910 920 930 940 950
NIQDSRCEVN INGATLKSEC CATLGAAWGS PCERCELDTA CPRGLARIKG
960 970 980 990 1000
VTCEDVNECE VFPGVCPNGR CVNSKGSFHC ECPEGLTLDG TGRVCLDIRM
1010 1020 1030 1040 1050
EQCYLKWDED ECIHPVPGKF RMDACCCAVG AAWGTECEEC PKPGTKEYET
1060 1070 1080 1090 1100
LCPRGAGFAN RGDVLTGRPF YKDINECKAF PGMCTYGKCR NTIGSFKCRC
1110 1120 1130 1140 1150
NSGFALDMEE RNCTDIDECR ISPDLCGSGI CVNTPGSFEC ECFEGYESGF
1160 1170 1180 1190 1200
MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
1210 1220 1230 1240 1250
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN
1260 1270 1280 1290 1300
GGCDTQCTNS EGSYECSCSE GYALMPDGRS CADIDECENN PDICDGGQCT
1310 1320 1330 1340 1350
NIPGEYRCLC YDGFMASMDM KTCIDVNECD LNSNICMFGE CENTKGSFIC
1360 1370 1380 1390 1400
HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM HASCLNIPGS FKCSCREGWI
1410 1420 1430 1440 1450
GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF TGDGFTCSDV
1460 1470 1480 1490 1500
DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ DIDECSFQNI
1510 1520 1530 1540 1550
CVFGTCNNLP GMFHCICDDG YELDRTGGNC TDIDECADPI NCVNGLCVNT
1560 1570 1580 1590 1600
PGRYECNCPP DFQLNPTGVG CVDNRVGNCY LKFGPRGDGS LSCNTEIGVG
1610 1620 1630 1640 1650
VSRSSCCCSL GKAWGNPCET CPPVNSTEYY TLCPGGEGFR PNPITIILED
1660 1670 1680 1690 1700
IDECQELPGL CQGGNCINTF GSFQCECPQG YYLSEDTRIC EDIDECFAHP
1710 1720 1730 1740 1750
GVCGPGTCYN TLGNYTCICP PEYMQVNGGH NCMDMRKSFC YRSYNGTTCE
1760 1770 1780 1790 1800
NELPFNVTKR MCCCTYNVGK AWNKPCEPCP TPGTADFKTI CGNIPGFTFD
1810 1820 1830 1840 1850
IHTGKAVDID ECKEIPGICA NGVCINQIGS FRCECPTGFS YNDLLLVCED
1860 1870 1880 1890 1900
IDECSNGDNL CQRNADCINS PGSYRCECAA GFKLSPNGAC VDRNECLEIP
1910 1920 1930 1940 1950
NVCSHGLCVD LQGSYQCICH NGFKASQDQT MCMDVDECER HPCGNGTCKN
1960 1970 1980 1990 2000
TVGSYNCLCY PGFELTHNND CLDIDECSSF FGQVCRNGRC FNEIGSFKCL
2010 2020 2030 2040 2050
CNEGYELTPD GKNCIDTNEC VALPGSCSPG TCQNLEGSFR CICPPGYEVK
2060 2070 2080 2090 2100
SENCIDINEC DEDPNICLFG SCTNTPGGFQ CLCPPGFVLS DNGRRCFDTR
2110 2120 2130 2140 2150
QSFCFTNFEN GKCSVPKAFN TTKAKCCCSK MPGEGWGDPC ELCPKDDEVA
2160 2170 2180 2190 2200
FQDLCPYGHG TVPSLHDTRE DVNECLESPG ICSNGQCINT DGSFRCECPM
2210 2220 2230 2240 2250
GYNLDYTGVR CVDTDECSIG NPCGNGTCTN VIGSFECNCN EGFEPGPMMN
2260 2270 2280 2290 2300
CEDINECAQN PLLCAFRCMN TFGSYECTCP IGYALREDQK MCKDLDECAE
2310 2320 2330 2340 2350
GLHDCESRGM MCKNLIGTFM CICPPGMARR PDGEGCVDEN ECRTKPGICE
2360 2370 2380 2390 2400
NGRCVNIIGS YRCECNEGFQ SSSSGTECLD NRQGLCFAEV LQTICQMASS
2410 2420 2430 2440 2450
SRNLVTKSEC CCDGGRGWGH QCELCPLPGT AQYKKICPHG PGYTTDGRDI
2460 2470 2480 2490 2500
DECKVMPNLC TNGQCINTMG SFRCFCKVGY TTDISGTSCI DLDECSQSPK
2510 2520 2530 2540 2550
PCNYICKNTE GSYQCSCPRG YVLQEDGKTC KDLDECQTKQ HNCQFLCVNT
2560 2570 2580 2590 2600
LGGFTCKCPP GFTQHHTACI DNNECGSQPS LCGAKGICQN TPGSFSCECQ
2610 2620 2630 2640 2650
RGFSLDATGL NCEDVDECDG NHRCQHGCQN ILGGYRCGCP QGYIQHYQWN
2660 2670 2680 2690 2700
QCVDENECSN PNACGSASCY NTLGSYKCAC PSGFSFDQFS SACHDVNECS
2710 2720 2730 2740 2750
SSKNPCNYGC SNTEGGYLCG CPPGYYRVGQ GHCVSGMGFN KGQYLSLDTE
2760 2770 2780 2790 2800
VDEENALSPE ACYECKINGY SKKDSRQKRS IHEPDPTAVE QISLESVDMD
2810 2820 2830 2840 2850
SPVNMKFNLS HLGSKEHILE LRPAIQPLNN HIRYVISQGN DDSVFRIHQR
2860 2870 2880 2890 2900
NGLSYLHTAK KKLMPGTYTL EITSIPLYKK KELKKLEESN EDDYLLGELG
2910
EALRMRLQIQ LY
Length:2,912
Mass (Da):314,775
Last modified:May 26, 2009 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0F0D78319E9911E6
GO
Isoform 2 (identifier: P35556-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-145: Missing.
     1491-1506: DIDECSFQNICVFGTC → GGSPGFQLIFKLDQPQ
     1507-2912: Missing.

Show »
Length:1,473
Mass (Da):157,690
Checksum:i2B6620CFCA6F7A72
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PHW4E9PHW4_HUMAN
Fibrillin-2
FBN2
341Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RJI3D6RJI3_HUMAN
Fibrillin-2
FBN2
1,473Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WYV8A0A087WYV8_HUMAN
Fibrillin-2
FBN2
2,911Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6REJ2D6REJ2_HUMAN
Fibrillin-2
FBN2
356Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section 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><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti146I → L in BAG62163 (PubMed:14702039).Curated1
Sequence conflicti192 – 195GPNR → AQP in AAA18950 (PubMed:8120105).Curated4
Sequence conflicti243I → T in AAA18950 (PubMed:8120105).Curated1
Sequence conflicti243I → T in BAG62163 (PubMed:14702039).Curated1
Sequence conflicti1161E → G in AAA18950 (PubMed:8120105).Curated1
Sequence conflicti1161E → G in CAB56757 (PubMed:1852206).Curated1
Sequence conflicti1244D → G in BAG62163 (PubMed:14702039).Curated1
Sequence conflicti1409L → R in CAB56757 (PubMed:1852206).Curated1
Sequence conflicti1503F → S in AAA18950 (PubMed:8120105).Curated1
Sequence conflicti2584A → G in AAA18950 (PubMed:8120105).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015851391E → K in DA9. Corresponds to variant dbSNP:rs137852826EnsemblClinVar.1
Natural variantiVAR_054979594T → S2 Publications1
Natural variantiVAR_054980681R → H1 PublicationCorresponds to variant dbSNP:rs548605398EnsemblClinVar.1
Natural variantiVAR_058364754G → S in DA9. 1 PublicationCorresponds to variant dbSNP:rs145259927EnsemblClinVar.1
Natural variantiVAR_002349965V → I4 PublicationsCorresponds to variant dbSNP:rs154001EnsemblClinVar.1
Natural variantiVAR_0549811057G → D in DA9. 2 Publications1
Natural variantiVAR_0583651091N → S in DA9. 1 Publication1
Natural variantiVAR_0549821093I → T in DA9. 2 Publications1
Natural variantiVAR_0107391115D → H in DA9; the underlying nucleotide substitution also causes low level in-frame mis-splicing of exon 25. 2 PublicationsCorresponds to variant dbSNP:rs137852827EnsemblClinVar.1
Natural variantiVAR_0583661122S → P in DA9. 1 Publication1
Natural variantiVAR_0107401142C → F in DA9. 2 PublicationsCorresponds to variant dbSNP:rs137852828EnsemblClinVar.1
Natural variantiVAR_0583671142C → R in DA9. 1 Publication1
Natural variantiVAR_0726511144E → K in EOMD. 1 PublicationCorresponds to variant dbSNP:rs200060005EnsemblClinVar.1
Natural variantiVAR_0583681146Y → C in DA9. 1 Publication1
Natural variantiVAR_0583691156C → F in DA9. 1 PublicationCorresponds to variant dbSNP:rs1206843725EnsemblClinVar.1
Natural variantiVAR_0583701161E → K in DA9. 1 Publication1
Natural variantiVAR_0549831179G → C in DA9. 1 Publication1
Natural variantiVAR_0549841198C → Y in DA9. 1 PublicationCorresponds to variant dbSNP:rs863223567EnsemblClinVar.1
Natural variantiVAR_0549851240C → R in DA9. 1 Publication1
Natural variantiVAR_0583711246C → F in DA9. 1 Publication1
Natural variantiVAR_0726521247M → T in EOMD. 1 PublicationCorresponds to variant dbSNP:rs149054177EnsemblClinVar.1
Natural variantiVAR_0107411253C → W in DA9. 2 PublicationsCorresponds to variant dbSNP:rs28931602EnsemblClinVar.1
Natural variantiVAR_0023501253C → Y in DA9. 2 PublicationsCorresponds to variant dbSNP:rs137852825EnsemblClinVar.1
Natural variantiVAR_0764821257C → R in DA9. 1 Publication1
Natural variantiVAR_0549861257C → W in DA9. 1 Publication1
Natural variantiVAR_0726531259N → K in DA9. 1 PublicationCorresponds to variant dbSNP:rs267606802EnsemblClinVar.1
Natural variantiVAR_0549871268C → R in DA9. 1 Publication1
Natural variantiVAR_0726541381H → N1 PublicationCorresponds to variant dbSNP:rs78727187EnsemblClinVar.1
Natural variantiVAR_0583721384C → F in DA9. 1 Publication1
Natural variantiVAR_0583731384C → Y in DA9. 1 PublicationCorresponds to variant dbSNP:rs794727560EnsemblClinVar.1
Natural variantiVAR_0740521406C → R in DA9. 1 Publication1
Natural variantiVAR_0583741408D → N in DA9. 1 Publication1
Natural variantiVAR_0726551416T → A1 PublicationCorresponds to variant dbSNP:rs200837433EnsemblClinVar.1
Natural variantiVAR_0583751425C → R in DA9. 1 Publication1
Natural variantiVAR_0023511434C → S in DA9. 2 Publications1
Natural variantiVAR_0726561438E → K1 PublicationCorresponds to variant dbSNP:rs56168072EnsemblClinVar.1
Natural variantiVAR_0549881772W → G2 Publications1
Natural variantiVAR_0647052062E → V Found in a renal cell carcinoma case; somatic mutation. 1 Publication1
Natural variantiVAR_0549892266F → L2 Publications1
Natural variantiVAR_0554152278T → M. Corresponds to variant dbSNP:rs2307109EnsemblClinVar.1
Natural variantiVAR_0554162311M → V. Corresponds to variant dbSNP:rs32209EnsemblClinVar.1
Natural variantiVAR_0161432428P → T1 PublicationCorresponds to variant dbSNP:rs1801169Ensembl.1
Natural variantiVAR_0554172580S → L1 PublicationCorresponds to variant dbSNP:rs2291628EnsemblClinVar.1
Natural variantiVAR_0549902581L → S. Corresponds to variant dbSNP:rs2291628EnsemblClinVar.1
Natural variantiVAR_0146642771S → P2 PublicationsCorresponds to variant dbSNP:rs1801170Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_037369113 – 145Missing in isoform 2. 2 PublicationsAdd BLAST33
Alternative sequenceiVSP_0373701491 – 1506DIDEC…VFGTC → GGSPGFQLIFKLDQPQ in isoform 2. 2 PublicationsAdd BLAST16
Alternative sequenceiVSP_0373711507 – 2912Missing in isoform 2. 2 PublicationsAdd BLAST1406

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U03272 mRNA Translation: AAA18950.1
AK300440 mRNA Translation: BAG62163.1
AC025169 Genomic DNA No translation available.
AC034235 Genomic DNA No translation available.
AC113387 Genomic DNA No translation available.
X62009 mRNA Translation: CAB56757.1
AB209735 mRNA Translation: BAD92972.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34222.1 [P35556-1]

Protein sequence database of the Protein Information Resource

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PIRi
A54105

NCBI Reference Sequences

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RefSeqi
NP_001990.2, NM_001999.3 [P35556-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.519294

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000262464; ENSP00000262464; ENSG00000138829 [P35556-1]
ENST00000508053; ENSP00000424571; ENSG00000138829 [P35556-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2201

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2201

UCSC genome browser

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UCSCi
uc003kuu.3 human [P35556-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03272 mRNA Translation: AAA18950.1
AK300440 mRNA Translation: BAG62163.1
AC025169 Genomic DNA No translation available.
AC034235 Genomic DNA No translation available.
AC113387 Genomic DNA No translation available.
X62009 mRNA Translation: CAB56757.1
AB209735 mRNA Translation: BAD92972.1
CCDSiCCDS34222.1 [P35556-1]
PIRiA54105
RefSeqiNP_001990.2, NM_001999.3 [P35556-1]
UniGeneiHs.519294

3D structure databases

ProteinModelPortaliP35556
SMRiP35556
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108495, 25 interactors
IntActiP35556, 9 interactors
MINTiP35556
STRINGi9606.ENSP00000424571

PTM databases

GlyConnecti1236
iPTMnetiP35556
PhosphoSitePlusiP35556

Polymorphism and mutation databases

BioMutaiFBN2
DMDMi238054385

Proteomic databases

EPDiP35556
jPOSTiP35556
MaxQBiP35556
PaxDbiP35556
PeptideAtlasiP35556
PRIDEiP35556
ProteomicsDBi55082
55083 [P35556-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262464; ENSP00000262464; ENSG00000138829 [P35556-1]
ENST00000508053; ENSP00000424571; ENSG00000138829 [P35556-1]
GeneIDi2201
KEGGihsa:2201
UCSCiuc003kuu.3 human [P35556-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2201
DisGeNETi2201
EuPathDBiHostDB:ENSG00000138829.10

GeneCards: human genes, protein and diseases

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GeneCardsi
FBN2
GeneReviewsiFBN2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0005141
HIX0137461
HGNCiHGNC:3604 FBN2
HPAiCAB026401
HPA012853
MalaCardsiFBN2
MIMi121050 phenotype
612570 gene
616118 phenotype
neXtProtiNX_P35556
OpenTargetsiENSG00000138829
Orphaneti115 Congenital contractural arachnodactyly
279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA28017

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR7H Eukaryota
ENOG410XSTY LUCA
GeneTreeiENSGT00950000183158
HOGENOMiHOG000231768
HOVERGENiHBG005643
InParanoidiP35556
OMAiPGRCWGV
OrthoDBi665362at2759
PhylomeDBiP35556
TreeFamiTF316849

Enzyme and pathway databases

ReactomeiR-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1566948 Elastic fibre formation
R-HSA-2129379 Molecules associated with elastic fibres

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
FBN2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
2201

Protein Ontology

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PROi
PR:P35556

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138829 Expressed in 146 organ(s), highest expression level in placenta
ExpressionAtlasiP35556 baseline and differential
GenevisibleiP35556 HS

Family and domain databases

Gene3Di3.90.290.10, 9 hits
InterProiView protein in InterPro
IPR026823 cEGF
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR011398 FBN
IPR040872 Fibrillin_U_N
IPR009030 Growth_fac_rcpt_cys_sf
IPR017878 TB_dom
IPR036773 TB_dom_sf
PANTHERiPTHR24039 PTHR24039, 1 hit
PfamiView protein in Pfam
PF12662 cEGF, 2 hits
PF07645 EGF_CA, 39 hits
PF18193 Fibrillin_U_N, 1 hit
PF12661 hEGF, 2 hits
PF00683 TB, 9 hits
SMARTiView protein in SMART
SM00181 EGF, 46 hits
SM00179 EGF_CA, 44 hits
SUPFAMiSSF57184 SSF57184, 13 hits
SSF57581 SSF57581, 9 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 43 hits
PS00022 EGF_1, 2 hits
PS01186 EGF_2, 37 hits
PS50026 EGF_3, 45 hits
PS01187 EGF_CA, 43 hits
PS51364 TB, 9 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFBN2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P35556
Secondary accession number(s): B4DU01, Q59ES6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: May 26, 2009
Last modified: April 10, 2019
This is version 201 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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