Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:OCTN2
gptkb:carnitine_transporter_2 OCTN-2 organic cation transporter, novel, type 2 |
| gptkbp:approvedBy |
gptkb:solute_carrier_family_22_member_5
|
| gptkbp:approvedSymbol |
gptkb:SLC22A5
|
| gptkbp:associatedWith |
primary systemic carnitine deficiency
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000138079
6584 |
| gptkbp:function |
transports carnitine across plasma membrane
|
| gptkbp:locatedOnChromosome |
5q31.1
|
| gptkbp:location |
chromosome 5: 131,603,282-131,633,282 (GRCh38)
|
| gptkbp:locusType |
gene with protein product
|
| gptkbp:OMIM |
603377
|
| gptkbp:proteinFamily |
gptkb:solute_carrier_family
|
| gptkbp:RefSeq |
NM_003060
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
O76082
|
| gptkbp:bfsParent |
gptkb:CD277
|
| gptkbp:bfsLayer |
8
|
| http://www.w3.org/2000/01/rdf-schema#label |
HGNC:14253
|