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Protein

Collagen alpha-2(VIII) chain

Gene

COL8A2

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

Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity).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

  • extracellular matrix structural constituent Source: GO_Central
  • extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL
  • protein binding, bridging Source: UniProtKB

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

Biological processAngiogenesis, Cell adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-8948216 Collagen chain trimerization

<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:
Collagen alpha-2(VIII) chain
Alternative name(s):
Endothelial collagen
<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:COL8A2
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000171812.11

Human Gene Nomenclature Database

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HGNCi
HGNC:2216 COL8A2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
120252 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P25067

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Basement membrane, 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

Corneal dystrophy, Fuchs endothelial, 1 (FECD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
See also OMIM:136800
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_017894155R → Q in FECD1; identified as a polymorphism in the Japanese population. 2 PublicationsCorresponds to variant dbSNP:rs75864656Ensembl.1
Natural variantiVAR_017895304R → Q in FECD1. 1 PublicationCorresponds to variant dbSNP:rs369487110Ensembl.1
Natural variantiVAR_017896357G → R in FECD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199786966Ensembl.1
Natural variantiVAR_017897434R → H in FECD1. 1 PublicationCorresponds to variant dbSNP:rs201235688Ensembl.1
Natural variantiVAR_017899575P → L in FECD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145553904Ensembl.1
Corneal dystrophy, posterior polymorphous, 2 (PPCD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.
See also OMIM:609140

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1296

MalaCards human disease database

More...
MalaCardsi
COL8A2
MIMi136800 phenotype
609140 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000171812

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

More...
Orphaneti
98974 Fuchs endothelial corneal dystrophy
98973 Posterior polymorphous corneal dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26732

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL8A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
45644957

<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 ‘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_000000583529 – 703Collagen alpha-2(VIII) chainAdd BLAST675

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Proteolytically cleaved by neutrophil elastase, in vitro.1 Publication
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Keywords - PTMi

Hydroxylation

Proteomic databases

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

More...
PaxDbi
P25067

PeptideAtlas

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PeptideAtlasi
P25067

PRoteomics IDEntifications database

More...
PRIDEi
P25067

ProteomicsDB human proteome resource

More...
ProteomicsDBi
54250

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P25067

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

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PhosphoSitePlusi
P25067

<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 primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair follicles, around nerve bundles in muscle, in the dura of the optic nerve, in cornea and sclera, and in the perichondrium of cartilaginous tissues. In the kidney, expressed in mesangial cells, glomerular endothelial cells, and tubular epithelial cells. Also expressed in mast cells, and in astrocytes during the repair process. Expressed in Descemet's membrane.2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Some up-regulation in diabetic nephropathy.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000171812 Expressed in 189 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

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CleanExi
HS_COL8A2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P25067 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P25067 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA049788

<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

Homotrimers, or heterotrimers in association with alpha 2(VIII) type collagens. Four homotrimers can form a tetrahedron stabilized by central interacting C-terminal NC1 trimers.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107693, 18 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1745 Collagen type VIII trimer variant 1
CPX-1747 Collagen type VIII trimer variant 3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000305913

<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

More...
ProteinModelPortali
P25067

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

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SMRi
P25067

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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>Domaini570 – 703C1qPROSITE-ProRule annotationAdd BLAST134

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>Regioni29 – 76Nonhelical region (NC2)Add BLAST48
Regioni77 – 536Triple-helical regionAdd BLAST460
Regioni537 – 703Nonhelical region (NC1)Add BLAST167

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHF4 Eukaryota
ENOG410ZRFW LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154317

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000085653

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108220

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P25067

Identification of Orthologs from Complete Genome Data

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OMAi
QPMMKGP

Database of Orthologous Groups

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OrthoDBi
EOG091G0L3Y

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P25067

TreeFam database of animal gene trees

More...
TreeFami
TF334029

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.40, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001073 C1q_dom
IPR008160 Collagen
IPR008983 Tumour_necrosis_fac-like_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00386 C1q, 1 hit
PF01391 Collagen, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00007 COMPLEMNTC1Q

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00110 C1Q, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49842 SSF49842, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50871 C1Q, 1 hit

<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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P25067-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLGTLTPLSS LLLLLLVLVL GCGPRASSGG GAGGAAGYAP VKYIQPMQKG
60 70 80 90 100
PVGPPFREGK GQYLEMPLPL LPMDLKGEPG PPGKPGPRGP PGPPGFPGKP
110 120 130 140 150
GMGKPGLHGQ PGPAGPPGFS RMGKAGPPGL PGKVGPPGQP GLRGEPGIRG
160 170 180 190 200
DQGLRGPPGP PGLPGPSGIT IPGKPGAQGV PGPPGFQGEP GPQGEPGPPG
210 220 230 240 250
DRGLKGDNGV GQPGLPGAPG QGGAPGPPGL PGPAGLGKPG LDGLPGAPGD
260 270 280 290 300
KGESGPPGVP GPRGEPGAVG PKGPPGVDGV GVPGAAGLPG PQGPSGAKGE
310 320 330 340 350
PGTRGPPGLI GPTGYGMPGL PGPKGDRGPA GVPGLLGDRG EPGEDGEPGE
360 370 380 390 400
QGPQGLGGPP GLPGSAGLPG RRGPPGPKGE AGPGGPPGVP GIRGDQGPSG
410 420 430 440 450
LAGKPGVPGE RGLPGAHGPP GPTGPKGEPG FTGRPGGPGV AGALGQKGDL
460 470 480 490 500
GLPGQPGLRG PSGIPGLQGP AGPIGPQGLP GLKGEPGLPG PPGEGRAGEP
510 520 530 540 550
GTAGPTGPPG VPGSPGITGP PGPPGPPGPP GAPGAFDETG IAGLHLPNGG
560 570 580 590 600
VEGAVLGKGG KPQFGLGELS AHATPAFTAV LTSPFPASGM PVKFDRTLYN
610 620 630 640 650
GHSGYNPATG IFTCPVGGVY YFAYHVHVKG TNVWVALYKN NVPATYTYDE
660 670 680 690 700
YKKGYLDQAS GGAVLQLRPN DQVWVQMPSD QANGLYSTEY IHSSFSGFLL

CPT
Length:703
Mass (Da):67,244
Last modified:March 15, 2004 - v2
<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:i84BD7CBDBDECD466
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PP49E9PP49_HUMAN
Collagen alpha-2(VIII) chain
COL8A2
638Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB84955 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti88R → W in AAA62822 (PubMed:2019595).Curated1
Sequence conflicti102M → H in AAA62822 (PubMed:2019595).Curated1
Sequence conflicti133K → N in AAA62822 (PubMed:2019595).Curated1
Sequence conflicti347E → D in AAA62822 (PubMed:2019595).Curated1
Sequence conflicti377 – 378PK → LR in AAA62822 (PubMed:2019595).Curated2
Sequence conflicti506T → R in AAA62822 (PubMed:2019595).Curated1
Sequence conflicti523P → L in AAA62822 (PubMed:2019595).Curated1
Sequence conflicti529 – 531Missing in AAA62822 (PubMed:2019595).Curated3
Sequence conflicti585F → L in AAA62822 (PubMed:2019595).Curated1
Sequence conflicti677M → I in AAA62822 (PubMed:2019595).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0178933G → R1 PublicationCorresponds to variant dbSNP:rs115156902Ensembl.1
Natural variantiVAR_017894155R → Q in FECD1; identified as a polymorphism in the Japanese population. 2 PublicationsCorresponds to variant dbSNP:rs75864656Ensembl.1
Natural variantiVAR_017895304R → Q in FECD1. 1 PublicationCorresponds to variant dbSNP:rs369487110Ensembl.1
Natural variantiVAR_017896357G → R in FECD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199786966Ensembl.1
Natural variantiVAR_017897434R → H in FECD1. 1 PublicationCorresponds to variant dbSNP:rs201235688Ensembl.1
Natural variantiVAR_017898455Q → K in FECD1 and PPCD2. 1 PublicationCorresponds to variant dbSNP:rs80358191EnsemblClinVar.1
Natural variantiVAR_021387502T → M1 PublicationCorresponds to variant dbSNP:rs117860804Ensembl.1
Natural variantiVAR_017899575P → L in FECD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145553904Ensembl.1
Natural variantiVAR_017900645T → I1 PublicationCorresponds to variant dbSNP:rs200767854Ensembl.1

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
AK074129 mRNA Translation: BAB84955.1 Different initiation.
AL138787 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07388.1
M60832 Genomic DNA Translation: AAA62822.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS403.1

Protein sequence database of the Protein Information Resource

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PIRi
A57131

NCBI Reference Sequences

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RefSeqi
NP_001281276.1, NM_001294347.1
NP_005193.1, NM_005202.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.353001

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000303143; ENSP00000305913; ENSG00000171812
ENST00000397799; ENSP00000380901; ENSG00000171812

Database of genes from NCBI RefSeq genomes

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GeneIDi
1296

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1296

UCSC genome browser

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UCSCi
uc001bzv.4 human

Keywords - Coding sequence diversityi

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
AK074129 mRNA Translation: BAB84955.1 Different initiation.
AL138787 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07388.1
M60832 Genomic DNA Translation: AAA62822.1
CCDSiCCDS403.1
PIRiA57131
RefSeqiNP_001281276.1, NM_001294347.1
NP_005193.1, NM_005202.3
UniGeneiHs.353001

3D structure databases

ProteinModelPortaliP25067
SMRiP25067
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107693, 18 interactors
ComplexPortaliCPX-1745 Collagen type VIII trimer variant 1
CPX-1747 Collagen type VIII trimer variant 3
STRINGi9606.ENSP00000305913

PTM databases

iPTMnetiP25067
PhosphoSitePlusiP25067

Polymorphism and mutation databases

BioMutaiCOL8A2
DMDMi45644957

Proteomic databases

PaxDbiP25067
PeptideAtlasiP25067
PRIDEiP25067
ProteomicsDBi54250

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303143; ENSP00000305913; ENSG00000171812
ENST00000397799; ENSP00000380901; ENSG00000171812
GeneIDi1296
KEGGihsa:1296
UCSCiuc001bzv.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1296
DisGeNETi1296
EuPathDBiHostDB:ENSG00000171812.11

GeneCards: human genes, protein and diseases

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GeneCardsi
COL8A2
HGNCiHGNC:2216 COL8A2
HPAiHPA049788
MalaCardsiCOL8A2
MIMi120252 gene
136800 phenotype
609140 phenotype
neXtProtiNX_P25067
OpenTargetsiENSG00000171812
Orphaneti98974 Fuchs endothelial corneal dystrophy
98973 Posterior polymorphous corneal dystrophy
PharmGKBiPA26732

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHF4 Eukaryota
ENOG410ZRFW LUCA
GeneTreeiENSGT00940000154317
HOGENOMiHOG000085653
HOVERGENiHBG108220
InParanoidiP25067
OMAiQPMMKGP
OrthoDBiEOG091G0L3Y
PhylomeDBiP25067
TreeFamiTF334029

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-8948216 Collagen chain trimerization

Miscellaneous databases

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

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ChiTaRSi
COL8A2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
COL8A2

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

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GenomeRNAii
1296

Protein Ontology

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PROi
PR:P25067

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000171812 Expressed in 189 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_COL8A2
ExpressionAtlasiP25067 baseline and differential
GenevisibleiP25067 HS

Family and domain databases

Gene3Di2.60.120.40, 1 hit
InterProiView protein in InterPro
IPR001073 C1q_dom
IPR008160 Collagen
IPR008983 Tumour_necrosis_fac-like_dom
PfamiView protein in Pfam
PF00386 C1q, 1 hit
PF01391 Collagen, 1 hit
PRINTSiPR00007 COMPLEMNTC1Q
SMARTiView protein in SMART
SM00110 C1Q, 1 hit
SUPFAMiSSF49842 SSF49842, 1 hit
PROSITEiView protein in PROSITE
PS50871 C1Q, 1 hit

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 nameiCO8A2_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: P25067
Secondary accession number(s): Q5JV31, Q8TEJ5
<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: May 1, 1992
Last sequence update: March 15, 2004
Last modified: December 5, 2018
This is version 174 of the entry and version 2 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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