ENSG00000171812
Homo sapiens | |
Features
| Gene ID: | ENSG00000171812 | | | | | Biological name : | COL8A2 | | | | | Synonyms : | COL8A2 / collagen type VIII alpha 2 chain / P25067 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | p34.3 | | Gene start: | 36095236 | | Gene end: | 36125220 | | | | | Corresponding Affymetrix probe sets: | 221900_at (Human Genome U133 Plus 2.0 Array) 52651_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000380901
Ensembl peptide - ENSP00000436433
Ensembl peptide - ENSP00000305913
NCBI entrez gene - 1296
See in Manteia.
OMIM - 120252
RefSeq - NM_001294347
RefSeq - NM_005202
RefSeq Peptide - NP_001281276
RefSeq Peptide - NP_005193
swissprot - E9PP49
swissprot - P25067
Ensembl - ENSG00000171812
| | | | | Related genetic diseases (OMIM): | 136800 - Corneal dystrophy, Fuchs endothelial, 1, 136800 | | | 609140 - Corneal dystrophy, posterior polymorphous 2, 609140 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0001131 | Corneal dystrophy | |
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| | HP:0007705 | Corneal degeneration | |
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| | HP:0007957 | Variable degree of corneal opacities | |
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| | HP:0012038 | Corneal guttata | "Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet s membrane. The presence of focal thickenings of Descemet s membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible." [HPO:probinson, pmid:10611102, pmid:11222329] |
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| | HP:0012039 | Descemet Membrane Folds | "Presence of folds in the Descement membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descement membrane folds are generally a manifestation of inflammation or edema of the cornea." [HPO:probinson] |
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| | HP:0012040 | Corneal stromal edema | "Abnormal accumulation of fluid and swelling of the `stroma of cornea` (FMA:58306)." [HPO:probinson] |
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Interacting proteins (from Reactome)
No match
0 s.
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