Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:hereditary_angiopathy_with_nephropathy,_aneurysms,_and_muscle_cramps_(HANAC)_syndrome
gptkb:porencephaly cerebral hemorrhage small vessel disease |
| gptkbp:discoveredBy |
Sage HJ et al.
|
| gptkbp:encodes |
gptkb:collagen_alpha-1(IV)_chain
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000187498
1282 |
| gptkbp:expressedIn |
gptkb:eye
gptkb:skeletal_muscle gptkb:kidney brain |
| gptkbp:function |
structural component of basement membranes
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
gptkb:HGNC:2201
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_13
|
| gptkbp:mutationAssociatedWith |
vascular defects
|
| gptkbp:OMIM |
120130
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Col4a1
|
| gptkbp:proteinFamily |
gptkb:collagen_type_IV_family
|
| gptkbp:UniProtID |
gptkb:P02462
|
| gptkbp:bfsParent |
gptkb:collagen_IV
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL4A1 gene
|