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

    Gene ID: 1296, updated on 5-Jan-2022

    Summary

    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
    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
    NEW
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    Genomic context

    See COL8A2 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (36095239..36126207, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36560840..36590823, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tektin 2 Neighboring gene ADP-ribosylserine hydrolase Neighboring gene trafficking protein particle complex subunit 3 Neighboring gene MAP7 domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 618

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ00201, MGC116970, MGC116972

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in extracellular matrix organization NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    collagen alpha-2(VIII) chain
    Names
    collagen VIII, alpha-2 polypeptide
    collagen, type VIII, alpha 2
    endothelial collagen

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4863..34846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001294347.2NP_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, ENST00000481785.1
      Conserved Domains (2) summary
      smart00110
      Location:503638
      C1Q; Complement component C1q domain
      pfam01391
      Location:368417
      Collagen; Collagen triple helix repeat (20 copies)
    2. NM_005202.4NP_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, ENST00000397799.2
      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 Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      36095239..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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