Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
KIAA1985
SH3TC2 protein |
| gptkbp:associatedWith |
Charcot-Marie-Tooth disease type 4C
|
| gptkbp:biologicalProcess |
involved in myelination of peripheral nerves
|
| gptkbp:encodes |
SH3 domain and tetratricopeptide repeats-containing protein 2
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000164237
79718 |
| gptkbp:expressedIn |
Schwann cells
|
| gptkbp:HGNC_ID |
HGNC:23316
|
| https://www.w3.org/2000/01/rdf-schema#label |
SH3TC2
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
|
| gptkbp:mutationAssociatedWith |
demyelinating neuropathy
|
| gptkbp:OMIM |
608206
|
| gptkbp:UniProtID |
Q6ZW49
|
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:bfsLayer |
6
|