Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
Ehlers-Danlos syndrome
muscular dystrophy |
| gptkbp:discoveredIn |
1992
|
| gptkbp:encodes |
gptkb:collagen_alpha-1(XII)_chain
|
| gptkbp:Entrez_Gene_ID |
1303
ENSG00000111799 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:fullName |
gptkb:collagen_type_XII_alpha_1_chain
|
| gptkbp:function |
extracellular matrix structural constituent
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:GO_term |
GO:0005201
|
| gptkbp:HGNC_ID |
HGNC:2202
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL12A1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
| gptkbp:OMIM |
120320
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Col12a1
|
| gptkbp:RefSeq |
NM_004370
|
| gptkbp:UniProtID |
Q99715
|
| gptkbp:bfsParent |
gptkb:EGR1
|
| gptkbp:bfsLayer |
6
|