Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
63910
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 17 member 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC17A9
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf59, POROK8, VNUT
Disease Acronyms (UniProt) Disease acronyms from UniProt database
POROK8
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs548728088 C>A,T Pathogenic Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs606231251 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT755320 hsa-miR-3150a-3p Luciferase reporter assay, Western blotting, qRT-PCR 34900992
MIRT1353577 hsa-miR-187 CLIP-seq
MIRT1353578 hsa-miR-2110 CLIP-seq
MIRT1353579 hsa-miR-3665 CLIP-seq
MIRT1353580 hsa-miR-3921 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001409 Function Guanine nucleotide transmembrane transporter activity IMP 18375752
GO:0005347 Function ATP transmembrane transporter activity IDA 18375752
GO:0005347 Function ATP transmembrane transporter activity IMP 18375752
GO:0005515 Function Protein binding IPI 32296183
GO:0006887 Process Exocytosis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612107 16192 ENSG00000101194
Protein
UniProt ID Q9BYT1
Protein name Voltage-gated purine nucleotide uniporter SLC17A9 (Solute carrier family 17 member 9) (Vesicular nucleotide transporter) (VNUT)
Protein function Voltage-gated ATP nucleotide uniporter that can also transport the purine nucleotides ADP and GTP. Uses the membrane potential as the driving force to control ATP accumulation in lysosomes and secretory vesicles (PubMed:18375752, PubMed:23467297
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 30 387 Major Facilitator Superfamily Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, but more predominantly in adrenal gland, brain and thyroid. {ECO:0000269|PubMed:18375752}.
Sequence
Sequence length 436
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259
Porokeratosis Porokeratosis, Porokeratosis, Disseminated Superficial Actinic, POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE rs397514570, rs104895301, rs104895373, rs397514571, rs398122910, rs398122911, rs606231251, rs863225241, rs769193201, rs104895362, rs761991070, rs755948940 25596766, 25180256
Unknown
Disease term Disease name Evidence References Source
Disseminated Superficial Actinic Porokeratosis disseminated superficial actinic porokeratosis GenCC
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 40302348
Diabetes Gestational Associate 36313769
Hepatitis B Chronic Associate 40480312
Inflammation Associate 40480312
Kidney Neoplasms Associate 40302348
Neuralgia Associate 35266813
Pain Associate 35266813
Phantom Limb Associate 35266813
Stomach Neoplasms Associate 31799885