Statements (30)
Predicate | Object |
---|---|
gptkbp:instanceOf |
Ensembl gene ID
|
gptkbp:alias |
gptkb:ARALAR2
gptkb:CITRIN gptkb:CTLN2 |
gptkbp:associatedWith |
gptkb:Citrullinemia_type_II
Neonatal intrahepatic cholestasis caused by citrin deficiency |
gptkbp:biologicalProcess |
transmembrane transporter activity
amino acid transport |
gptkbp:cellularComponent |
mitochondrial inner membrane
|
gptkbp:describes |
gptkb:solute_carrier_family_25_member_13
|
gptkbp:endPoint |
95866813
|
gptkbp:Entrez_Gene_ID |
10165
|
gptkbp:gene |
gptkb:SLC25A13
|
gptkbp:geneType |
protein_coding
|
gptkbp:hasTranscript |
ENST00000357008
ENST00000357009 ENST00000418362 ENST00000442115 |
gptkbp:HGNC_ID |
HGNC:10987
|
https://www.w3.org/2000/01/rdf-schema#label |
ENSG00000198909
|
gptkbp:locatedOnChromosome |
7
7q21.3 |
gptkbp:OMIM |
603859
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:startPoint |
95783797
|
gptkbp:strand |
reverse
|
gptkbp:UniProtID |
Q9UJS0
|
gptkbp:bfsParent |
gptkb:PIK3C3
gptkb:PIK3C3_gene |
gptkbp:bfsLayer |
6
|