Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	63910
Gene name	Solute carrier family 17 member 9
Gene symbol	SLC17A9
Synonyms (NCBI Gene)	C20orf59POROK8VNUT
Chromosome	20
Chromosome location	20q13.33
Summary	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.

Show/Hide all (2)

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

Show/Hide all (53)

miRTarBase ID	miRNA	Experiments	Reference
MIRT755320	hsa-miR-3150a-3p	Luciferase reporter assayWestern blottingqRT-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
MIRT1353581	hsa-miR-4271	CLIP-seq
MIRT1353582	hsa-miR-4522	CLIP-seq
MIRT1353583	hsa-miR-4649-3p	CLIP-seq
MIRT1353584	hsa-miR-4653-5p	CLIP-seq
MIRT1353585	hsa-miR-4714-5p	CLIP-seq
MIRT1353586	hsa-miR-4725-3p	CLIP-seq
MIRT1353587	hsa-miR-4736	CLIP-seq
MIRT1353588	hsa-miR-4738-3p	CLIP-seq
MIRT1353589	hsa-miR-491-5p	CLIP-seq
MIRT1353590	hsa-miR-516a-5p	CLIP-seq
MIRT2104636	hsa-miR-1207-5p	CLIP-seq
MIRT1353583	hsa-miR-4649-3p	CLIP-seq
MIRT1353588	hsa-miR-4738-3p	CLIP-seq
MIRT2104637	hsa-miR-4763-3p	CLIP-seq
MIRT2329089	hsa-miR-122	CLIP-seq
MIRT2329090	hsa-miR-1226	CLIP-seq
MIRT2329091	hsa-miR-1293	CLIP-seq
MIRT2329092	hsa-miR-1343	CLIP-seq
MIRT2329093	hsa-miR-188-3p	CLIP-seq
MIRT2329094	hsa-miR-3155	CLIP-seq
MIRT2329095	hsa-miR-3155b	CLIP-seq
MIRT2329096	hsa-miR-3612	CLIP-seq
MIRT2329097	hsa-miR-3657	CLIP-seq
MIRT2329098	hsa-miR-3691-3p	CLIP-seq
MIRT2329099	hsa-miR-4267	CLIP-seq
MIRT2329100	hsa-miR-4283	CLIP-seq
MIRT2329101	hsa-miR-4443	CLIP-seq
MIRT2329102	hsa-miR-4483	CLIP-seq
MIRT2329103	hsa-miR-4489	CLIP-seq
MIRT2329104	hsa-miR-4651	CLIP-seq
MIRT2329105	hsa-miR-4669	CLIP-seq
MIRT2329106	hsa-miR-484	CLIP-seq
MIRT2329107	hsa-miR-566	CLIP-seq
MIRT2329108	hsa-miR-603	CLIP-seq
MIRT2329109	hsa-miR-608	CLIP-seq
MIRT2329110	hsa-miR-650	CLIP-seq
MIRT2329111	hsa-miR-661	CLIP-seq
MIRT2329111	hsa-miR-661	CLIP-seq
MIRT2623524	hsa-miR-3692	CLIP-seq
MIRT2623525	hsa-miR-4464	CLIP-seq
MIRT2623526	hsa-miR-4684-5p	CLIP-seq
MIRT2623527	hsa-miR-4748	CLIP-seq
MIRT2623528	hsa-miR-4768-5p	CLIP-seq
MIRT2623524	hsa-miR-3692	CLIP-seq
MIRT2623525	hsa-miR-4464	CLIP-seq
MIRT2623526	hsa-miR-4684-5p	CLIP-seq
MIRT2623527	hsa-miR-4748	CLIP-seq
MIRT2623528	hsa-miR-4768-5p	CLIP-seq

Show/Hide all (32)

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:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	ISS
GO:0015217	Function	ADP transmembrane transporter activity	IMP	18375752
GO:0015866	Process	ADP transport	IMP	18375752
GO:0015867	Process	ATP transport	IBA
GO:0015867	Process	ATP transport	IDA	18375752
GO:0015867	Process	ATP transport	IMP	18375752
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042584	Component	Chromaffin granule membrane	IEA
GO:0042584	Component	Chromaffin granule membrane	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0072530	Process	Purine-containing compound transmembrane transport	IEA
GO:0098594	Component	Mucin granule	IDA	23467297
GO:0141013	Process	Purine nucleotide import into lysosome	IEA
GO:0141013	Process	Purine nucleotide import into lysosome	ISS
GO:0160042	Function	Purine nucleotide uniporter activity	IEA
GO:0160042	Function	Purine nucleotide uniporter activity	IMP	23467297
GO:1903790	Process	Guanine nucleotide transmembrane transport	IMP	18375752
GO:1904669	Process	ATP export	IEA
GO:1904669	Process	ATP export	IEA
GO:1904669	Process	ATP export	IMP	23467297
GO:1905146	Process	Lysosomal protein catabolic process	IEA

MIM	HGNC	e!Ensembl
612107	16192	ENSG00000101194

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

MQPPPDEARRDMAGDTQWSRPECQAWTGTLLLGTCLLYCARSSMPICTVSMSQDFGWNKK
EAGIVLSSFFWGYCLTQVVGGHLGDRIGGEKVILLSASAWGSITAVTPLLAHLSSAHLAF
MTFSRILMGLLQGVYFPALTSLLSQKVRESERAFTYSIVGAGSQFGTLLTGAVGSLLLEW
YGWQSIFYFSGGLTLLWVWYVYRYLLSEKDLILALGVLAQSRPVSRHNRVPWRRLFRKPA
VWAAVVSQLSAACSFFILLSWLPTFFEETFPDAKGWIFNVVPWLVAIPASLFSGFLSDHL
INQGYRAITVRKLMQGMGLGLSSVFALCLGHTSSFCESVVFASASIGLQTFNHSGISVNI
QDLAPSCAGFLFGVANTAGALAGVVGVCLGGYLMETTGSWTCLFNLVAIISNLGLCTFLV
FGQAQRVDLSSTHEDL

Sequence length

436

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Porokeratosis 8, disseminated superficial actinic type	Pathogenic	rs606231251	RCV000144721	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC17A9-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40302348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30236596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36313769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31178730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated superficial actinic porokeratosis	Disseminated Superficial Actinic Porokeratosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis B Chronic	Hepatitis b	Pubtator	40480312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	40302348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30236596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30236596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porokeratosis	Porokeratosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE	Porokeratosis	UNIPROT_DG	25180256		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE	Porokeratosis	GENOMICS_ENGLAND_DG	25596766		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE	Porokeratosis	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE	Porokeratosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porokeratosis, Disseminated Superficial Actinic	Porokeratosis	BEFREE	25180256		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis, Disseminated Superficial Actinic	Porokeratosis	ORPHANET_DG	25180256		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis, Disseminated Superficial Actinic	Porokeratosis	GENOMICS_ENGLAND_DG	25596766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31799885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31799885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC17A9 (solute carrier family 17 member 9)