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Aliases for COL8A2 Gene

Aliases for COL8A2 Gene

  • Collagen, Type VIII, Alpha 2 2 3
  • Endothelial Collagen 3 4
  • FECD1 3 6
  • PPCD2 3 6
  • Collagen VIII, Alpha-2 Polypeptide 3
  • Collagen Alpha-2(VIII) Chain 3
  • PPCD 3
  • FECD 3

External Ids for COL8A2 Gene

Previous HGNC Symbols for COL8A2 Gene

  • FECD

Previous GeneCards Identifiers for COL8A2 Gene

  • GC01U990028
  • GC01M035616
  • GC01M035987
  • GC01M035988
  • GC01M036229
  • GC01M036333
  • GC01M036563
  • GC01M034677

Summaries for COL8A2 Gene

Entrez Gene Summary for COL8A2 Gene

  • 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]

GeneCards Summary for COL8A2 Gene

COL8A2 (Collagen, Type VIII, Alpha 2) is a Protein Coding gene. Diseases associated with COL8A2 include corneal dystrophy, fuchs endothelial, 1 and corneal dystrophy, posterior polymorphous 2. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and protein binding, bridging. An important paralog of this gene is COL8A1.

UniProtKB/Swiss-Prot for COL8A2 Gene

  • Macromolecular component of the subendothelium. Major component of the Descemets 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).

Gene Wiki entry for COL8A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL8A2 Gene

Genomics for COL8A2 Gene

Regulatory Elements for COL8A2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for COL8A2 Gene

Start:
36,095,236 bp from pter
End:
36,125,704 bp from pter
Size:
30,469 bases
Orientation:
Minus strand

Genomic View for COL8A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL8A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL8A2 Gene

Proteins for COL8A2 Gene

  • Protein details for COL8A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25067-CO8A2_HUMAN
    Recommended name:
    Collagen alpha-2(VIII) chain
    Protein Accession:
    P25067
    Secondary Accessions:
    • Q5JV31
    • Q8TEJ5

    Protein attributes for COL8A2 Gene

    Size:
    703 amino acids
    Molecular mass:
    67244 Da
    Quaternary structure:
    • Homotrimers, or heterotrimers in association with alpha 2(VIII) type collagens. Four homotrimers can form a tetrhedron stabilized by central interacting C-terminal NC1 trimers.
    SequenceCaution:
    • Sequence=BAB84955.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for COL8A2 Gene

Proteomics data for COL8A2 Gene at MOPED

Post-translational modifications for COL8A2 Gene

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

Other Protein References for COL8A2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL8A2 Gene

Domains for COL8A2 Gene

Gene Families for COL8A2 Gene

HGNC:

Suggested Antigen Peptide Sequences for COL8A2 Gene

Graphical View of Domain Structure for InterPro Entry

P25067

UniProtKB/Swiss-Prot:

CO8A2_HUMAN :
  • P25067
Domain:
  • Contains 1 C1q domain.
genes like me logo Genes that share domains with COL8A2: view

Function for COL8A2 Gene

Molecular function for COL8A2 Gene

GENATLAS Biochemistry: collagen type VIII,alpha 2,short chain,component of Descemet membrane
UniProtKB/Swiss-Prot Function: Macromolecular component of the subendothelium. Major component of the Descemets 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).
UniProtKB/Swiss-Prot Induction: Some up-regulation in diabetic nephropathy.

Gene Ontology (GO) - Molecular Function for COL8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent NAS 2019595
GO:0005515 protein binding --
GO:0030674 protein binding, bridging NAS 2019595
genes like me logo Genes that share ontologies with COL8A2: view

Phenotypes for COL8A2 Gene

genes like me logo Genes that share phenotypes with COL8A2: view

Animal Models for COL8A2 Gene

MGI Knock Outs for COL8A2:

Animal Model Products

CRISPR Products

miRNA for COL8A2 Gene

miRTarBase miRNAs that target COL8A2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for COL8A2 Gene

Localization for COL8A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL8A2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL8A2 Gene COMPARTMENTS Subcellular localization image for COL8A2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for COL8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix NAS 2019595
GO:0005581 collagen trimer IEA --
GO:0005604 basement membrane NAS 2019595
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL8A2: view

Pathways for COL8A2 Gene

genes like me logo Genes that share pathways with COL8A2: view

Gene Ontology (GO) - Biological Process for COL8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0016337 single organismal cell-cell adhesion NAS 2019595
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with COL8A2: view

Transcripts for COL8A2 Gene

Unigene Clusters for COL8A2 Gene

Collagen, type VIII, alpha 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL8A2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for COL8A2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL8A2 Gene

No ASD Table

Relevant External Links for COL8A2 Gene

GeneLoc Exon Structure for
COL8A2
ECgene alternative splicing isoforms for
COL8A2

Expression for COL8A2 Gene

mRNA expression in normal human tissues for COL8A2 Gene

mRNA differential expression in normal tissues according to GTEx for COL8A2 Gene

This gene is overexpressed in Artery - Aorta (6.5) and Artery - Tibial (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL8A2 Gene

SOURCE GeneReport for Unigene cluster for COL8A2 Gene Hs.353001

mRNA Expression by UniProt/SwissProt for COL8A2 Gene

P25067-CO8A2_HUMAN
Tissue specificity: 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 Descemets membrane.
genes like me logo Genes that share expressions with COL8A2: view

In Situ Assay Products

Orthologs for COL8A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL8A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL8A2 35
  • 99.53 (n)
  • 99.43 (a)
COL8A2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL8A2 35
  • 88.87 (n)
  • 95.02 (a)
COL8A2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL8A2 35
  • 88.97 (n)
  • 95.9 (a)
COL8A2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col8a2 35
  • 87.9 (n)
  • 95.31 (a)
Col8a2 16
Col8a2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL8A2 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col8a2 35
  • 86.58 (n)
  • 95.02 (a)
chicken
(Gallus gallus)
Aves COL8A2 35
  • 72.98 (n)
  • 81.2 (a)
COL8A2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL8A2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col8a2 35
  • 64.65 (n)
  • 70.24 (a)
zebrafish
(Danio rerio)
Actinopterygii col8a2 35
  • 64.12 (n)
  • 66.21 (a)
col8a2 36
  • 64 (a)
OneToOne
Species with no ortholog for COL8A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL8A2 Gene

ENSEMBL:
Gene Tree for COL8A2 (if available)
TreeFam:
Gene Tree for COL8A2 (if available)

Paralogs for COL8A2 Gene

genes like me logo Genes that share paralogs with COL8A2: view

Variants for COL8A2 Gene

Sequence variations from dbSNP and Humsavar for COL8A2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs96067 -- 36,106,319(-) cttgg(C/T)gagtg intron-variant
rs156486 -- 36,110,727(-) ATCAC(C/T)TGAGG intron-variant
rs172077 -- 36,126,766(-) CCCAC(C/T)CCTCC upstream-variant-2KB
rs190651 -- 36,123,802(-) CTAGA(C/T)GATAA intron-variant
rs274123 -- 36,126,625(-) CACAC(A/G)CATGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for COL8A2 Gene

Variant ID Type Subtype PubMed ID
nsv871396 CNV Gain 21882294
nsv834691 CNV Loss 17160897
nsv871804 CNV Loss 21882294

Relevant External Links for COL8A2 Gene

HapMap Linkage Disequilibrium report
COL8A2
Human Gene Mutation Database (HGMD)
COL8A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL8A2 Gene

Disorders for COL8A2 Gene

(2) OMIM Diseases for COL8A2 Gene (120252)

UniProtKB/Swiss-Prot

CO8A2_HUMAN
  • Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]: A 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. {ECO:0000269 PubMed:11689488}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Corneal dystrophy, posterior polymorphous, 2 (PPCD2) [MIM:609140]: A 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. {ECO:0000269 PubMed:11689488}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for COL8A2 Gene

(5) Novoseek inferred disease relationships for COL8A2 Gene

Disease -log(P) Hits PubMed IDs
posterior polymorphous corneal dystrophy 97.2 2
corneal dystrophy, fuchs endothelial 96.8 5
endothelial corneal dystrophy 91.1 1
corneal dystrophy 90.4 9
fuchs dystrophy 80.3 1

Relevant External Links for COL8A2

Genetic Association Database (GAD)
COL8A2
Human Genome Epidemiology (HuGE) Navigator
COL8A2
genes like me logo Genes that share disorders with COL8A2: view

Publications for COL8A2 Gene

  1. Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. (PMID: 11689488) Biswas S. … Black G.C.M. (Hum. Mol. Genet. 2001) 2 3 4 23
  2. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. (PMID: 15175909) Kobayashi A. … Kanai A. (Jpn. J. Ophthalmol. 2004) 3 4 23
  3. Keratoconus is not associated with mutations in COL8A1 and COL8A2. (PMID: 17721297) Aldave A.J. … Sonmez B. (Cornea 2007) 3 23 48
  4. Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. (PMID: 20144242) Hemadevi B. … Sundaresan P. (BMC Ophthalmol 2010) 3 23 48
  5. The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1. (PMID: 2019595) Muragaki Y. … Olsen B.R. (J. Biol. Chem. 1991) 3 4

Products for COL8A2 Gene

Sources for COL8A2 Gene

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