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COL8A2 collagen type VIII alpha 2 chain [ Homo sapiens (human) ]

Gene ID: 1296, updated on 3-Jun-2018
Official Symbol
COL8A2provided by HGNC
Official Full Name
collagen type VIII alpha 2 chainprovided by HGNC
Primary source
HGNC:HGNC:2216
See related
Ensembl:ENSG00000171812 MIM:120252; Vega:OTTHUMG00000007665
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FECD; PPCD; FECD1; PPCD2
Summary
This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Expression
Broad expression in placenta (RPKM 6.6), spleen (RPKM 3.6) and 22 other tissues See more
Orthologs
See COL8A2 in Genome Data Viewer
Location:
1p34.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (36095236..36126207, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36560840..36591305, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tektin 2 Neighboring gene ADP-ribosylhydrolase like 2 Neighboring gene trafficking protein particle complex 3 Neighboring gene MAP7 domain containing 1 Neighboring gene RNA, 7SL, cytoplasmic 131, pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Corneal dystrophy, Fuchs endothelial 1
MedGen: C1850959 OMIM: 136800 GeneReviews: Not available
Compare labs
Corneal dystrophy, posterior polymorphous, 2
MedGen: C1852795 OMIM: 609140 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
NHGRI GWA Catalog
  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
    Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
  • Collagen chain trimerization, organism-specific biosystem (from REACTOME)
    Collagen chain trimerization, organism-specific biosystemThe C-propeptides of collagen propeptide chains are essential for the association of three peptide chains into a trimeric but non-helical procollagen. This initial binding event determines the compo...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ00201, MGC116970, MGC116972

Gene Ontology Provided by GOA

Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
camera-type eye morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix organization NAS
Non-traceable Author Statement
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
basement membrane NAS
Non-traceable Author Statement
more info
PubMed 
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
collagen alpha-2(VIII) chain
Names
collagen VIII, alpha-2 polypeptide
collagen, type VIII, alpha 2
endothelial collagen

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016245.2 RefSeqGene

    Range
    5001..34849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001294347.1NP_001281276.1  collagen alpha-2(VIII) chain isoform 2

    See identical proteins and their annotated locations for NP_001281276.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AI084614, AK074129, AL138787, HY025990
    Consensus CDS
    CCDS72756.1
    UniProtKB/Swiss-Prot
    P25067
    UniProtKB/TrEMBL
    E9PP49
    Related
    ENSP00000436433.1, OTTHUMP00000233211, ENST00000481785.1, OTTHUMT00000308994
    Conserved Domains (2) summary
    smart00110
    Location:503638
    C1Q; Complement component C1q domain
    pfam01391
    Location:368417
    Collagen; Collagen triple helix repeat (20 copies)
  2. NM_005202.3NP_005193.1  collagen alpha-2(VIII) chain isoform 1 precursor

    See identical proteins and their annotated locations for NP_005193.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI084614, AK074129, AL138787, HY025990
    Consensus CDS
    CCDS403.1
    UniProtKB/Swiss-Prot
    P25067
    Related
    ENSP00000380901.1, OTTHUMP00000009029, ENST00000397799.1, OTTHUMT00000020390
    Conserved Domains (2) summary
    smart00110
    Location:568703
    C1Q; Complement component C1q domain
    pfam01391
    Location:433482
    Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    36095236..36126207 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270477.3XP_005270534.1  collagen alpha-2(VIII) chain isoform X1

    Conserved Domains (2) summary
    smart00110
    Location:645780
    C1Q; Complement component C1q domain
    pfam01391
    Location:510559
    Collagen; Collagen triple helix repeat (20 copies)
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