Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:corneal_dystrophy
gptkb:posterior_polymorphous_corneal_dystrophy |
| gptkbp:biologicalProcess |
extracellular matrix organization
structural molecule activity collagen fibril organization |
| gptkbp:encodes |
gptkb:collagen_alpha-1(VIII)_chain
|
| gptkbp:Entrez_Gene_ID |
1295
ENSG00000185650 |
| gptkbp:expressedIn |
cornea
vascular tissues |
| gptkbp:fullName |
gptkb:collagen_type_VIII_alpha_1_chain
|
| gptkbp:function |
structural component of extracellular matrix
component of Descemet's membrane |
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:2202
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL8A1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
3q12.1 |
| gptkbp:OMIM |
120251
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Col8a1
|
| gptkbp:proteinFamily |
collagen family
|
| gptkbp:RefSeq |
gptkb:NM_001850
|
| gptkbp:UniProtID |
gptkb:P39059
|
| gptkbp:bfsParent |
gptkb:EGR1
|
| gptkbp:bfsLayer |
6
|