Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Ehlers-Danlos_syndrome,_classical_type
|
| gptkbp:encodes |
gptkb:collagen_alpha-2(V)_chain
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000142156
1290 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:function |
type V collagen biosynthesis
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasRefSeqID |
NM_000393
|
| gptkbp:HGNC_ID |
2215
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL5A2
|
| gptkbp:length |
2184 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:2q32.2
|
| gptkbp:mutationAssociatedWith |
Ehlers-Danlos syndrome
|
| gptkbp:numberOfExons |
52
|
| gptkbp:OMIM |
120190
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:Mus_musculus
|
| gptkbp:partOf |
collagen fibril formation
|
| gptkbp:product |
gptkb:collagen_type_V_alpha_2_chain
|
| gptkbp:UniProtID |
P05997
|
| gptkbp:bfsParent |
gptkb:COL5A1
|
| gptkbp:bfsLayer |
7
|