SLC17A9

Summary

SLC17A9 (solute carrier family 17 member 9, HGNC:16192) is a protein-coding gene on chromosome 20q13.33, encoding Voltage-gated purine nucleotide uniporter SLC17A9 (Q9BYT1). Voltage-gated ATP nucleotide uniporter that can also transport the purine nucleotides ADP and GTP.

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. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 63910 — RefSeq curated summary.

At a glance

• Gene–disease (curated): disseminated superficial actinic porokeratosis (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 116 total — 1 pathogenic
• Phenotypes (HPO): 8
• MANE Select transcript: NM_022082

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16192
Approved symbol	SLC17A9
Name	solute carrier family 17 member 9
Location	20q13.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23412, VNUT
Ensembl gene	ENSG00000101194
Ensembl biotype	protein_coding
OMIM	612107
Entrez	63910

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 11 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000370349, ENST00000370351, ENST00000411611, ENST00000459704, ENST00000483113, ENST00000487303, ENST00000488738, ENST00000878412, ENST00000878413, ENST00000878414, ENST00000878415, ENST00000878416, ENST00000930362, ENST00000930363, ENST00000954464

RefSeq mRNA: 2 — MANE Select: NM_022082 NM_001302643, NM_022082

CCDS: CCDS42901, CCDS77600

Canonical transcript exons

ENST00000370351 — 13 exons

Exon	Start	End
ENSE00001322011	62962624	62962754
ENSE00001452456	62952709	62952889
ENSE00003477339	62956765	62956962
ENSE00003503109	62964228	62964315
ENSE00003520612	62966525	62966580
ENSE00003528297	62966703	62966732
ENSE00003539827	62963273	62963369
ENSE00003550801	62965132	62965166
ENSE00003580832	62960504	62960603
ENSE00003639377	62965610	62965725
ENSE00003665889	62963584	62963680
ENSE00003734562	62967337	62969585
ENSE00003790327	62957441	62957580

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 98.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1838 / max 705.8619, expressed in 1132 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185779	6.7082	1066
185781	1.2661	557
185782	0.7042	307
185780	0.5052	266

Top tissues by expression

255 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.14	gold quality
liver	UBERON:0002107	92.64	gold quality
stromal cell of endometrium	CL:0002255	91.23	gold quality
tendon of biceps brachii	UBERON:0008188	91.12	gold quality
spleen	UBERON:0002106	90.72	gold quality
pylorus	UBERON:0001166	88.82	gold quality
bone marrow cell	CL:0002092	87.80	gold quality
body of stomach	UBERON:0001161	86.82	gold quality
pancreatic ductal cell	CL:0002079	86.36	silver quality
lymph node	UBERON:0000029	86.01	gold quality
stomach	UBERON:0000945	84.09	gold quality
ascending aorta	UBERON:0001496	83.90	gold quality
thoracic aorta	UBERON:0001515	83.78	gold quality
mucosa of transverse colon	UBERON:0004991	83.72	gold quality
transverse colon	UBERON:0001157	83.27	gold quality
granulocyte	CL:0000094	82.64	gold quality
fundus of stomach	UBERON:0001160	82.57	gold quality
rectum	UBERON:0001052	82.53	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.52	gold quality
descending thoracic aorta	UBERON:0002345	81.95	gold quality
right coronary artery	UBERON:0001625	81.90	gold quality
vermiform appendix	UBERON:0001154	81.56	gold quality
mucosa of stomach	UBERON:0001199	81.50	gold quality
minor salivary gland	UBERON:0001830	81.38	gold quality
upper lobe of left lung	UBERON:0008952	81.04	gold quality
epithelium of nasopharynx	UBERON:0001951	80.86	gold quality
left coronary artery	UBERON:0001626	80.51	gold quality
upper lobe of lung	UBERON:0008948	80.44	gold quality
caecum	UBERON:0001153	80.43	gold quality
bone marrow	UBERON:0002371	80.42	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.83

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1I2

miRNA regulators (miRDB)

40 targeting SLC17A9, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-6769B-5P	98.73	64.91	1092
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-633	98.35	69.45	1167
HSA-MIR-5585-3P	98.25	67.41	941
HSA-MIR-3155A	98.16	66.09	965
HSA-MIR-3155B	98.16	66.09	965
HSA-MIR-484	98.16	66.92	1074

Literature-anchored findings (GeneRIF, showing 16)

• SLC17A9 protein acts as a vesicular nucleotide transporter (VNUT) and plays an essential role in vesicular storage of ATP in the ATP-secreting cells [SLC17A9] (PMID:18375752)
• analysis of involvement of SLC17A9-dependent vesicular exocytosis in the mechanism of ATP release during T cell activation (PMID:20382737)
• the existence of an SLC17A9-dependent ATP-enriched vesicular pool in biliary epithelium that undergoes regulated exocytosis to initiate purinergic signaling. (PMID:21613220)
• These results suggest that SLC17A9 is the relevant nucleotide transporter responsible for the uptake of cytosolic nucleotides into mucin granules. (PMID:23467297)
• It is suggested that the functions of VNUT, in addition to P2 receptors may be a target for anti-inflammatory response in skin. (PMID:24292772)
• data suggest that SLC17A9 activity mediates lysosomal ATP accumulation and plays an important role in lysosomal physiology and cell viability. (PMID:24962569)
• Results identified SLC17A9 as another pathogenic gene for DSAP, which suggests a correlation between the aberrant vesicular nucleotide transporter and the pathogenesis of DSAP. (PMID:25180256)
• Data (including data from studies using knockout mice) suggest that VNUT/SLC17A9 localized in tertiary/secretory granules of neutrophils is responsible for vesicular ATP release and subsequent neutrophil migration/infiltration. (PMID:29363573)
• our data suggested that SLC17A9 may play an important role in the progression of colorectal cancer (PMID:30236596)
• expression of TRPV4 and VNUT in normal human gastrointestinal cell derived cell lines (PMID:30365528)
• Transient Receptor Potential Vanilloid 4 Regulation of Adenosine Triphosphate Release by the Adenosine Triphosphate Transporter Vesicular Nucleotide Transporter, a Novel Therapeutic Target for Gastrointestinal Baroreception and Chronic Inflammation. (PMID:31770754)
• High expression of SLC17A9 was associated with gastric cancer. (PMID:31799885)
• [VNUT Is a Therapeutic Target for Type 2 Diabetes and NASH]. (PMID:33790119)
• Single-nucleotide polymorphisms of the SLC17A9 and P2RY12 genes are significantly associated with phantom tooth pain. (PMID:35266813)
• LINC01836 Promotes Colorectal Cancer Progression and Functions as ceRNA to Target SLC17A9 by Sponging miR-1226-3p. (PMID:38058092)
• The HHEX-ABI2/SLC17A9 axis induces cancer stem cell-like properties and tumorigenesis in HCC. (PMID:38844969)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc17a9b	ENSDARG00000011049
danio_rerio	slc17a9a	ENSDARG00000042954
mus_musculus	Slc17a9	ENSMUSG00000023393
rattus_norvegicus	Slc17a9	ENSRNOG00000010275
drosophila_melanogaster	MFS18	FBGN0025684
caenorhabditis_elegans		WBGENE00010758

Paralogs (12): SLC17A6 (ENSG00000091664), SLC17A7 (ENSG00000104888), SLC17A2 (ENSG00000112337), SLC17A5 (ENSG00000119899), SLC17A3 (ENSG00000124564), SLC17A1 (ENSG00000124568), SLC37A2 (ENSG00000134955), SLC37A4 (ENSG00000137700), SLC17A4 (ENSG00000146039), SLC37A3 (ENSG00000157800), SLC37A1 (ENSG00000160190), SLC17A8 (ENSG00000179520)

Protein

Protein identifiers

Voltage-gated purine nucleotide uniporter SLC17A9 — Q9BYT1 (reviewed: Q9BYT1)

Alternative names: Solute carrier family 17 member 9, Vesicular nucleotide transporter

All UniProt accessions (2): Q9BYT1, Q5W197

UniProt curated annotations — full annotation on UniProt →

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. By controlling ATP storage in lysosomes, regulates ATP-dependent proteins of these organelles. Also indirectly regulates the exocytosis of ATP through its import into lysosomes in astrocytes and secretory vesicles such as adrenal chromaffin granules, mucin granules and synaptic vesicles.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Chromaffin granule membrane. Secretory vesicle membrane. Lysosome membrane.

Tissue specificity. Widely expressed, but more predominantly in adrenal gland, brain and thyroid.

Disease relevance. Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM:616063] A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Activity is chloride-dependent. Inhibited by AMP-PNP, gammaS-ATP, diadenosine triphosphate, 4,4’- diisothiocyanatostilbene-2,2’-disulfonate (DIDS) and Evans blue.

Similarity. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BYT1-1	1, VNUT-1	yes
Q9BYT1-2	2, VNUT-2
Q9BYT1-3	3

RefSeq proteins (2): NP_001289572, NP_071365* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005829	Sugar_transporter_CS	Conserved_site
IPR011701	MFS	Family
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR044777	SLC17A9-like	Family
IPR050382	MFS_Na/Anion_cotransporter	Family

Pfam: PF07690

Catalyzed reactions (Rhea), 3 shown:

• ATP(in) = ATP(out) (RHEA:75687)
• ADP(in) = ADP(out) (RHEA:75783)
• GTP(in) = GTP(out) (RHEA:75787)

UniProt features (19 total): transmembrane region 10, sequence variant 4, splice variant 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYT1-F1	89.46	0.73

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 187 (showing top): GCACCTT_MIR18A_MIR18B, GOBP_LYSOSOMAL_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, GOBP_NUCLEOTIDE_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, MYCMAX_01, GOMF_NUCLEOBASE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_NUCLEOTIDE_TRANSMEMBRANE_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_PURINE_NUCLEOTIDE_TRANSPORT, RYTTCCTG_ETS2_B

GO Biological Process (8): ADP transport (GO:0015866), ATP transport (GO:0015867), purine nucleotide import into lysosome (GO:0141013), guanine nucleotide transmembrane transport (GO:1903790), ATP export (GO:1904669), lysosomal protein catabolic process (GO:1905146), transmembrane transport (GO:0055085), purine-containing compound transmembrane transport (GO:0072530)

GO Molecular Function (6): guanine nucleotide transmembrane transporter activity (GO:0001409), ATP transmembrane transporter activity (GO:0005347), ADP transmembrane transporter activity (GO:0015217), purine nucleotide uniporter activity (GO:0160042), protein binding (GO:0005515), transmembrane transporter activity (GO:0022857)

GO Cellular Component (9): lysosomal membrane (GO:0005765), transport vesicle membrane (GO:0030658), chromaffin granule membrane (GO:0042584), mucin granule (GO:0098594), lysosome (GO:0005764), endomembrane system (GO:0012505), membrane (GO:0016020), secretory granule (GO:0030141), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
purine ribonucleotide transport	2
adenine nucleotide transport	2
purine-containing compound transmembrane transport	2
ATP transport	2
lysosome	2
transmembrane transport	2
purine nucleotide transmembrane transporter activity	2
adenine nucleotide transmembrane transporter activity	2
purine ribonucleotide transmembrane transporter activity	2
cellular anatomical structure	2
lysosomal transport	1
intercellular transport	1
vacuolar transmembrane transport	1
guanine nucleotide transport	1
nucleotide transmembrane transport	1
protein catabolic process in the vacuole	1
transport	1
cellular process	1
nitrogen compound transport	1
guanine nucleotide transmembrane transport	1
ADP transport	1
membrane potential driven uniporter activity	1
binding	1
transporter activity	1
lytic vacuole membrane	1
transport vesicle	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
secretory granule membrane	1
chromaffin granule	1
secretory granule	1
lytic vacuole	1
vacuole	1
plasma membrane	1
endomembrane system	1
secretory vesicle	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

810 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC17A9	P2RX3	P56373	552
SLC17A9	SLC18A3	Q16572	542
SLC17A9	ZNF563	Q8TA94	507
SLC17A9	PANX1	Q96RD7	479
SLC17A9	P2RX4	Q99571	474
SLC17A9	SVOP	Q8N4V2	466
SLC17A9	LRTM3	Q8NDH2	457
SLC17A9	SLC18A1	P54219	457
SLC17A9	SLC32A1	Q9H598	451
SLC17A9	P2RX2	Q9UBL9	447
SLC17A9	P2RX1	P51575	436
SLC17A9	P2RY2	P41231	434
SLC17A9	CLCN3	P51790	433
SLC17A9	SLC18B1	Q6NT16	429
SLC17A9	VPS33A	Q96AX1	418
SLC17A9	P2RY11	Q96G91	418

IntAct

21 interactions, top by confidence:

A	B	Type	Score
SCAND1	SLC17A9	psi-mi:“MI:0915”(physical association)	0.560
SLC17A9	SMG9	psi-mi:“MI:0915”(physical association)	0.560
SLC17A9	DIABLO	psi-mi:“MI:0915”(physical association)	0.560
MTERF3	SLC17A9	psi-mi:“MI:0915”(physical association)	0.560
TARS2	SLC17A9	psi-mi:“MI:0915”(physical association)	0.560
SLC17A9	MYG1	psi-mi:“MI:0915”(physical association)	0.560
SLC17A9	RPA2	psi-mi:“MI:0915”(physical association)	0.370
SLC17A9	PIPSL	psi-mi:“MI:0914”(association)	0.350
TARS2	SLC17A9	psi-mi:“MI:0915”(physical association)	0.000
MYG1	SLC17A9	psi-mi:“MI:0915”(physical association)	0.000
SCAND1	SLC17A9	psi-mi:“MI:0915”(physical association)	0.000
SMG9	SLC17A9	psi-mi:“MI:0915”(physical association)	0.000
DIABLO	SLC17A9	psi-mi:“MI:0915”(physical association)	0.000
MTERF3	SLC17A9	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (81): SMG9 (Two-hybrid), C12orf10 (Two-hybrid), TARS2 (Two-hybrid), MTERF3 (Two-hybrid), SCAND1 (Two-hybrid), DIABLO (Two-hybrid), ACAA2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTG2 (Affinity Capture-MS), ACTR1B (Affinity Capture-MS), ACVR1B (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), APLP2 (Affinity Capture-MS), APP (Affinity Capture-MS), ATM (Affinity Capture-MS)

ESM2 similar proteins: A4QN56, B1AT66, B2RXV4, D4A734, G8XYX6, M0RCI4, O00476, O15374, O15403, O70324, P0DX21, P36021, P46720, Q17QN9, Q17QR6, Q32NG5, Q503M4, Q5BIZ0, Q5NCM1, Q5R5M4, Q5RCN7, Q5ZJU0, Q66HE2, Q66KG0, Q6GM59, Q6P2X9, Q6PDC8, Q6ZSM3, Q7RTX9, Q7RTY0, Q7RTY1, Q7SXB7, Q7TM99, Q7TMR7, Q86VW1, Q8BGC3, Q8CE94, Q8HYW2, Q8K1C7, Q8K1P8

Diamond homologs: A4FV52, A6QLI1, O00476, O00624, O61369, O82390, P0A4K4, P0A4K5, P0DX21, P34644, Q03567, Q05B21, Q0IZQ3, Q10046, Q1L8X9, Q2QWW7, Q32LF0, Q3E9A0, Q3TXX4, Q53P54, Q53WP9, Q5NCM1, Q5Q0U0, Q5SZA1, Q5W8I7, Q5W8I8, Q61983, Q62634, Q652N5, Q66GI9, Q6INC8, Q7TSF2, Q7XJR2, Q8BFU8, Q8BLE7, Q8BN82, Q8GX78, Q8NDX2, Q8VCL5, Q8W0H5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

116 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	72
Likely benign	17
Benign	10

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
156578	NM_022082.4(SLC17A9):c.932G>A (p.Arg311Gln)	Pathogenic

SpliceAI

2964 predictions. Top by Δscore:

Variant	Effect	Δscore
20:62956886:G:GT	donor_gain	1.0000
20:62957436:TCCA:T	acceptor_loss	1.0000
20:62957438:CAGG:C	acceptor_loss	1.0000
20:62957439:A:AG	acceptor_gain	1.0000
20:62957439:A:G	acceptor_loss	1.0000
20:62957439:AG:A	acceptor_gain	1.0000
20:62957440:G:GT	acceptor_gain	1.0000
20:62957440:GG:G	acceptor_gain	1.0000
20:62957440:GGA:G	acceptor_gain	1.0000
20:62957440:GGATT:G	acceptor_gain	1.0000
20:62957577:CAAG:C	donor_loss	1.0000
20:62957578:AAGGT:A	donor_loss	1.0000
20:62957581:GTA:G	donor_loss	1.0000
20:62957582:T:A	donor_loss	1.0000
20:62960500:GCA:G	acceptor_loss	1.0000
20:62960501:CAG:C	acceptor_loss	1.0000
20:62960502:A:AG	acceptor_gain	1.0000
20:62960502:AG:A	acceptor_gain	1.0000
20:62960502:AGG:A	acceptor_gain	1.0000
20:62960502:AGGG:A	acceptor_gain	1.0000
20:62960503:G:GG	acceptor_gain	1.0000
20:62960503:G:GT	acceptor_loss	1.0000
20:62960503:GG:G	acceptor_gain	1.0000
20:62960503:GGG:G	acceptor_gain	1.0000
20:62960503:GGGG:G	acceptor_gain	1.0000
20:62960503:GGGGT:G	acceptor_gain	1.0000
20:62964314:GG:G	donor_gain	1.0000
20:62964315:GG:G	donor_gain	1.0000
20:62966523:A:AG	acceptor_gain	1.0000
20:62966523:AGT:A	acceptor_gain	1.0000

AlphaMissense

2825 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:62956907:A:C	S68R	0.993
20:62956909:C:A	S68R	0.993
20:62956909:C:G	S68R	0.993
20:62960575:A:C	S157R	0.993
20:62960577:C:A	S157R	0.993
20:62960577:C:G	S157R	0.993
20:62957481:T:A	W100R	0.992
20:62957481:T:C	W100R	0.992
20:62957568:G:C	G129R	0.992
20:62957580:G:T	G133W	0.992
20:62962715:T:A	W197R	0.992
20:62962715:T:C	W197R	0.992
20:62960603:G:A	G166E	0.991
20:62956904:A:C	S67R	0.990
20:62956906:C:A	S67R	0.990
20:62956906:C:G	S67R	0.990
20:62957580:G:A	G133R	0.990
20:62957580:G:C	G133R	0.990
20:62960591:G:A	G162D	0.990
20:62956919:G:C	G72R	0.989
20:62956910:T:C	F69L	0.988
20:62956912:C:A	F69L	0.988
20:62956912:C:G	F69L	0.988
20:62966703:G:A	G373D	0.988
20:62956802:G:C	G33R	0.987
20:62967441:T:C	F418L	0.987
20:62967443:C:A	F418L	0.987
20:62967443:C:G	F418L	0.987
20:62964282:A:C	S293R	0.986
20:62964284:C:A	S293R	0.986

dbSNP variants (sampled 300 via entrez): RS1000032017 (20:62952808 G>A), RS1000408543 (20:62952664 G>T), RS1001216752 (20:62965858 G>T), RS1001312160 (20:62952398 C>T), RS1001388112 (20:62956644 A>G), RS1001480965 (20:62962303 T>C), RS1001510133 (20:62952627 C>T), RS1001794844 (20:62953274 T>C), RS1001827404 (20:62953480 C>T), RS1002136414 (20:62951748 C>G), RS1002159514 (20:62956237 C>G,T), RS1002189254 (20:62956457 G>A), RS1002201039 (20:62952775 T>A,C), RS1002394748 (20:62961436 C>T), RS1002419060 (20:62966304 C>T)

Disease associations

OMIM: gene MIM:612107 | disease phenotypes: MIM:616063

GenCC curated gene-disease

Disease	Classification	Inheritance
disseminated superficial actinic porokeratosis	Supportive	Autosomal dominant
porokeratosis 8, disseminated superficial actinic type	Limited	Autosomal dominant

Mondo (2): porokeratosis 8, disseminated superficial actinic type (MONDO:0014479), disseminated superficial actinic porokeratosis (MONDO:0019212)

Orphanet (1): Disseminated superficial actinic porokeratosis (Orphanet:79152)

HPO phenotypes

8 total (8 of 8 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000989	Pruritus
HP:0000992	Cutaneous photosensitivity
HP:0002860	Squamous cell carcinoma
HP:0003621	Juvenile onset
HP:0011462	Young adult onset
HP:0200034	Papule
HP:0200044	Porokeratosis

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007726_3	Anti-Toxoplasma gondii IgG seropositivity	8.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007047	Toxoplasma gondii seropositivity

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Vesicular nucleotide transporter

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
clodronic acid	Inhibition	7.81	pIC50

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	3
Benzo(a)pyrene	affects methylation, decreases expression	3
Cyclosporine	affects expression, increases expression	3
sodium arsenite	decreases expression, increases methylation	2
Valproic Acid	affects cotreatment, increases expression, increases methylation	2
aristolochic acid I	increases expression	1
propylparaben	increases methylation	1
bisphenol A	affects expression	1
methylparaben	increases methylation	1
monobutyl phthalate	increases methylation	1
perfluorooctane sulfonic acid	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	decreases expression	1
Copper	affects cotreatment, decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Quercetin	increases expression	1
Testosterone	increases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4S2	HuH7-SLC17A9-KO-c11	Cancer cell line	Male
CVCL_D4S3	HuH7-SLC17A9-KO-c16	Cancer cell line	Male
CVCL_E0NN	Ubigene HeLa SLC17A9 KO	Cancer cell line	Female
CVCL_TL73	HAP1 SLC17A9 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.