Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Bethlem_myopathy
gptkb:Ullrich_congenital_muscular_dystrophy |
| gptkbp:chromosomeArm |
21q22.3
|
| gptkbp:discoveredIn |
1988
|
| gptkbp:encodes |
collagen alpha-2(VI) chain
|
| gptkbp:Entrez_Gene_ID |
1292
|
| gptkbp:fullName |
collagen type VI alpha 2 chain
|
| gptkbp:function |
cell adhesion
extracellular matrix structural constituent tissue integrity |
| gptkbp:HGNC_ID |
HGNC:2212
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL6A2
|
| gptkbp:locatedOnChromosome |
21
|
| gptkbp:mRNAReferenceSequence |
NM_001849
|
| gptkbp:numberOfExons |
23
|
| gptkbp:OMIM |
120240
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Col6a2
|
| gptkbp:partOf |
collagen type VI complex
|
| gptkbp:proteinReferenceSequence |
NP_001840
|
| gptkbp:tissue_specificity |
gptkb:skin
gptkb:skeletal_muscle tendon |
| gptkbp:UniProtID |
P12110
|
| gptkbp:bfsParent |
gptkb:COL6A1
|
| gptkbp:bfsLayer |
7
|