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Aliases for COL8A2 Gene

Aliases for COL8A2 Gene

  • Collagen Type VIII Alpha 2 Chain 2 3 5
  • Collagen, Type VIII, Alpha 2 2 3
  • Endothelial Collagen 3 4
  • Collagen VIII, Alpha-2 Polypeptide 3
  • Collagen Alpha-2(VIII) Chain 3
  • Collagen Type VIII Alpha 2 2
  • FECD1 3
  • PPCD2 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 Chain) 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 Collagen biosynthesis and modifying enzymes and Phospholipase-C Pathway. 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

Enhancers for COL8A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F036154 0.2 ENCODE 29.8 -30.9 -30898 4.5 PKNOX1 ARID4B SIN3A ZNF2 ZNF548 FOS ZNF263 SP3 JUNB REST SFPQ ZMYM4 RPL5P4 THRAP3 MAP7D1 COL8A2 LOC105378647 EVA1B TRAPPC3 RN7SL131P
GH01F035800 1 Ensembl ENCODE 20.9 +325.2 325170 1.2 ZNF493 ZFP64 ZEB1 ZNF121 ZNF23 ZNF302 ZNF354C KLF7 SMARCA5 ZNF680 ZMYM1 SFPQ LOC653160 ZMYM4 RPL5P4 ENSG00000230163 THRAP3 LOC105378647 COL8A2 EVA1B
GH01F036126 0.6 FANTOM5 13.1 -1.1 -1083 0.2 ZBTB10 ZNF740 CDC5L REST ZFHX2 ZNF791 PATZ1 KLF9 KDM4B KLF8 MAP7D1 RPL5P4 SFPQ COL8A2 EVA1B THRAP3
GH01F036093 0.2 ENCODE 12.7 +31.8 31776 0.2 REST COL8A2 TRAPPC3 MAP7D1 SH3D21 ENSG00000116883 EVA1B ENSG00000201448 OSCP1 ADPRHL2
GH01F036098 0.6 Ensembl ENCODE 12.6 +26.1 26079 2.2 HDGF PKNOX1 ARNT CREB3L1 SIN3A ZNF48 ZNF2 ZNF143 KLF13 MXD4 COL8A2 ENSG00000201448 OSCP1 MAP7D1 TRAPPC3 ADPRHL2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around COL8A2 on UCSC Golden Path with GeneCards custom track

Promoters for COL8A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001743743 570 801 RAD51 SUZ12 USF2 ZNF16 ZBTB7A EZH2

Genomic Location for COL8A2 Gene

Chromosome:
1
Start:
36,095,236 bp from pter
End:
36,125,770 bp from pter
Size:
30,535 bases
Orientation:
Minus strand

Genomic View for COL8A2 Gene

Genes around COL8A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL8A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

Antibody Products

  • Cloud-Clone Corp. Antibodies for COL8A2
  • Santa Cruz Biotechnology (SCBT) Antibodies for COL8A2

No data available for DME Specific Peptides for COL8A2 Gene

Domains & Families for COL8A2 Gene

Gene Families for COL8A2 Gene

Suggested Antigen Peptide Sequences for COL8A2 Gene

Graphical View of Domain Structure for InterPro Entry

P25067

UniProtKB/Swiss-Prot:

CO8A2_HUMAN :
  • Contains 1 C1q domain.
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: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

Human Phenotype Ontology for COL8A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL8A2 Gene

MGI Knock Outs for COL8A2:

Animal Model Products

miRNA for COL8A2 Gene

miRTarBase miRNAs that target COL8A2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
endoplasmic reticulum 5
extracellular 5

Gene Ontology (GO) - Cellular Components for COL8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,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 & Interactions 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:0007155 cell adhesion IEA --
GO:0016337 single organismal cell-cell adhesion NAS 2019595
GO:0030198 extracellular matrix organization NAS,TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with COL8A2: view

No data available for SIGNOR curated interactions for COL8A2 Gene

Transcripts for COL8A2 Gene

Unigene Clusters for COL8A2 Gene

Collagen, type VIII, alpha 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE for COL8A2 Gene

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

This gene is overexpressed in Artery - Aorta (x6.5) and Artery - Tibial (x4.7).

Protein differential expression in normal tissues from HIPED for COL8A2 Gene

This gene is overexpressed in Bone (37.4) and Heart (29.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COL8A2 Gene



Protein tissue co-expression partners for COL8A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of COL8A2 Gene:

COL8A2

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 expression patterns with COL8A2: view

Primer 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 34 35
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia COL8A2 34 35
  • 88.97 (n)
cow
(Bos Taurus)
Mammalia COL8A2 34 35
  • 88.87 (n)
mouse
(Mus musculus)
Mammalia Col8a2 34 16 35
  • 87.9 (n)
rat
(Rattus norvegicus)
Mammalia Col8a2 34
  • 86.58 (n)
oppossum
(Monodelphis domestica)
Mammalia COL8A2 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL8A2 34 35
  • 72.98 (n)
lizard
(Anolis carolinensis)
Reptilia COL8A2 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col8a2 34
  • 64.65 (n)
zebrafish
(Danio rerio)
Actinopterygii col8a2 34 35
  • 64.12 (n)
Species where no ortholog for COL8A2 was found in the sources mined by GeneCards:
  • 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

Variants for COL8A2 Gene

Sequence variations from dbSNP and Humsavar for COL8A2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs201235688 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800] 36,098,380(+) CAGGG(C/T)GACCC reference, missense
rs369487110 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800] 36,098,770(+) GGCCC(C/T)GGGTC reference, missense
rs75864656 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800] 36,099,217(+) GTCCC(C/T)GGAGG reference, missense
rs80358191 Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800], Corneal dystrophy, posterior polymorphous, 2 (PPCD2) [MIM:609140], Pathogenic 36,098,318(-) CTGGG(A/C)AGCCT reference, missense
rs80358192 Pathogenic 36,098,332(-) TGACT(C/G/T)GGGGC reference, missense

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

Variant ID Type Subtype PubMed ID
esv2670923 CNV deletion 23128226
esv3332926 CNV insertion 20981092
nsv471895 CNV novel sequence insertion 20440878
nsv545992 CNV loss 21841781
nsv834691 CNV loss 17160897

Variation tolerance for COL8A2 Gene

Residual Variation Intolerance Score: 31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.33; 70.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL8A2 Gene

Human Gene Mutation Database (HGMD)
COL8A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL8A2

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

Disorders for COL8A2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for COL8A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy, fuchs endothelial, 1
  • corneal dystrophy, fuchs endothelial 1
corneal dystrophy, posterior polymorphous 2
  • ppcd2
fuchs' endothelial dystrophy
  • fced
corneal dystrophy, posterior polymorphous, 1
  • corneal endothelial dystrophy 1, autosomal dominant
corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for COL8A2

Genetic Association Database (GAD)
COL8A2
Human Genome Epidemiology (HuGE) Navigator
COL8A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL8A2
genes like me logo Genes that share disorders with COL8A2: view

No data available for Genatlas for COL8A2 Gene

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 22 64
  2. Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. (PMID: 20144242) Hemadevi B. … Sundaresan P. (BMC Ophthalmol 2010) 3 22 46 64
  3. Keratoconus is not associated with mutations in COL8A1 and COL8A2. (PMID: 17721297) Aldave A.J. … Sonmez B. (Cornea 2007) 3 22 46 64
  4. 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 22 64
  5. Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. (PMID: 21139683) Desronvil T. … Wiggs J.L. (Mol. Vis. 2010) 3 46 64

Products for COL8A2 Gene

Sources for COL8A2 Gene

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