SLC17A6

Summary

SLC17A6 (solute carrier family 17 member 6, HGNC:16703) is a protein-coding gene on chromosome 11p14.3, encoding Vesicular glutamate transporter 2 (Q9P2U8). Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, proton, potassium, sodium and phosphate.

Enables L-glutamate uniporter activity. Involved in L-glutamate import and phosphate ion homeostasis. Located in synaptic vesicle membrane.

Source: NCBI Gene 57084 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_020346

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16703
Approved symbol	SLC17A6
Name	solute carrier family 17 member 6
Location	11p14.3
Locus type	gene with protein product
Status	Approved
Aliases	DNPI, VGLUT2
Ensembl gene	ENSG00000091664
Ensembl biotype	protein_coding
OMIM	607563
Entrez	57084

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 retained_intron, 1 protein_coding

ENST00000263160, ENST00000534115, ENST00000648880

RefSeq mRNA: 1 — MANE Select: NM_020346 NM_020346

CCDS: CCDS7856

Canonical transcript exons

ENST00000263160 — 12 exons

Exon	Start	End
ENSE00000707982	22376545	22376672
ENSE00000988214	22338381	22338619
ENSE00000988216	22341528	22341780
ENSE00000988218	22343247	22343365
ENSE00000988222	22362739	22362825
ENSE00000988223	22365547	22365689
ENSE00000988224	22370039	22370188
ENSE00000988225	22374755	22374887
ENSE00001328584	22377405	22379503
ENSE00001658478	22360897	22360984
ENSE00001694578	22375982	22376092
ENSE00003542572	22359413	22359527

Expression profiles

Bgee: expression breadth broad, 70 present calls, max score 99.51.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.5545 / max 428.0379, expressed in 160 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113468	0.9717	133
113464	0.4598	95
113467	0.4461	91
113462	0.3881	102
113461	0.1526	68
113465	0.0571	24
113463	0.0341	16
113466	0.0260	11
113460	0.0190	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	99.51	gold quality
pons	UBERON:0000988	98.59	gold quality
buccal mucosa cell	CL:0002336	93.05	gold quality
medulla oblongata	UBERON:0001896	91.69	gold quality
superior vestibular nucleus	UBERON:0007227	91.33	gold quality
middle temporal gyrus	UBERON:0002771	89.78	gold quality
ventral tegmental area	UBERON:0002691	89.56	gold quality
ganglionic eminence	UBERON:0004023	89.27	gold quality
Brodmann (1909) area 23	UBERON:0013554	87.90	gold quality
primary visual cortex	UBERON:0002436	87.37	gold quality
dorsal root ganglion	UBERON:0000044	86.56	gold quality
hypothalamus	UBERON:0001898	85.33	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	84.68	gold quality
occipital lobe	UBERON:0002021	82.78	gold quality
entorhinal cortex	UBERON:0002728	82.67	gold quality
inferior olivary complex	UBERON:0002127	81.72	gold quality
dorsal plus ventral thalamus	UBERON:0001897	81.48	gold quality
postcentral gyrus	UBERON:0002581	80.37	gold quality
trigeminal ganglion	UBERON:0001675	79.93	gold quality
parietal lobe	UBERON:0001872	78.41	gold quality
islet of Langerhans	UBERON:0000006	77.11	gold quality
endothelial cell	CL:0000115	76.79	silver quality
temporal lobe	UBERON:0001871	76.55	gold quality
superior frontal gyrus	UBERON:0002661	75.34	gold quality
embryo	UBERON:0000922	73.65	gold quality
amygdala	UBERON:0001876	72.85	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	72.30	gold quality
Brodmann (1909) area 46	UBERON:0006483	72.28	gold quality
prefrontal cortex	UBERON:0000451	71.99	gold quality
Brodmann (1909) area 9	UBERON:0013540	70.77	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-9154	yes	317.02
E-MTAB-7316	yes	207.14
E-ANND-3	yes	4.58

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): LMX1B, SP1

miRNA regulators (miRDB)

183 targeting SLC17A6, 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-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-186-5P	99.99	70.83	3707
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-19A-3P	99.98	75.33	2762

Literature-anchored findings (GeneRIF, showing 15)

• Our results suggest that VGLUT1 expression in the prefrontal cortex could be used as a valuable neurochemical marker of dementia in AD. (PMID:17531353)
• Docking and homology modeling explain the inhibition of VGLUT2. (PMID:17660252)
• higher in tendinosis tendons compared to normal tendons (PMID:18050306)
• Vesicular glutamate transporter 2 was unchanged at both levels of gene expression. (PMID:18155679)
• VGluT2 is the only vesicular glutamate transporter expressed in transgenic ventral tegmental area/substantia nigra dopamine neurons in vivo. (PMID:18562601)
• This study decreased VGLUT2 mRNA expression in major depressive disorder in the middle temporal gyrus, and increased VGLUT2 mRNA expression in schizophrenia in the inferior temporal gyrus. (PMID:19839996)
• This study may lend support to the multiple rare mutations hypothesis of schizophrenia, and may provide genetic clues to indicate the involvement of the glutamate transmission pathway in the pathogenesis of schizophrenia. (PMID:20541370)
• Data indicate that GABAergic axons were labeled with vesicular inhibitory aa transporter (VIAAT) antibodies, whereas glutamatergic axons were detected with antisera against the major vesicular glutamate transporter (VGLUT) isoforms, VGLUT1 and VGLUT2. (PMID:22510271)
• This study demonistrated that Distribution of vesicular glutamate transporter 2 (VGluT2) in the primary visual cortex(V1 area) (PMID:22684983)
• There is a glutamatergic signal from ventral tegmental area VGluT2-habenular neurons that plays a role in aversive conditioning. (PMID:25319687)
• Itch is regulated by VGLUT2-mediated transmission in neurons via Trpv1. (PMID:25319702)
• This study demonstrated that Protein levels of vGLUT2 were significantly increased in schizophrenia subjects compared to controls. (PMID:26386900)
• Vglut2 and oligodendrocyte progenitor cells co-localize in multiple sclerosis lesions, supporting evidence that neuronal activity and release of glutamate instruct OPCs to differentiate into new myelinating oligodendrocytes that recover lost function. (PMID:26439639)
• These findings indicate that VGluT2-expressing excitatory neurons play a crucial role in mediating nociceptive transmission in the spinal dorsal horn (PMID:30203849)
• Roles of VGLUT2 and Dopamine/Glutamate Co-Transmission in Selective Vulnerability to Dopamine Neurodegeneration. (PMID:34994539)

Cross-species orthologs

37 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc17a6a	ENSDARG00000001127
danio_rerio	slc17a6b	ENSDARG00000041150
mus_musculus	Slc17a6	ENSMUSG00000030500
rattus_norvegicus	Slc17a6	ENSRNOG00000016147
drosophila_melanogaster	dmGlut	FBGN0010497
drosophila_melanogaster	Picot	FBGN0024315
drosophila_melanogaster	CG9254	FBGN0028513
drosophila_melanogaster	CG6978	FBGN0029727
drosophila_melanogaster	VGlut	FBGN0031424
caenorhabditis_elegans		WBGENE00001135
caenorhabditis_elegans		WBGENE00007669
caenorhabditis_elegans		WBGENE00008677
caenorhabditis_elegans		WBGENE00010755
caenorhabditis_elegans		WBGENE00010931
caenorhabditis_elegans		WBGENE00011185
caenorhabditis_elegans		WBGENE00011556
caenorhabditis_elegans		WBGENE00012443
caenorhabditis_elegans		WBGENE00015271
caenorhabditis_elegans		WBGENE00015272
caenorhabditis_elegans		WBGENE00016003
caenorhabditis_elegans		WBGENE00018429
caenorhabditis_elegans		WBGENE00018918
caenorhabditis_elegans		WBGENE00018920
caenorhabditis_elegans		WBGENE00019187
caenorhabditis_elegans		WBGENE00019655
caenorhabditis_elegans		WBGENE00020583
caenorhabditis_elegans		WBGENE00020584
caenorhabditis_elegans		WBGENE00020697
caenorhabditis_elegans		WBGENE00020698
caenorhabditis_elegans		WBGENE00020699
caenorhabditis_elegans		WBGENE00020700
caenorhabditis_elegans		WBGENE00021157
caenorhabditis_elegans		WBGENE00021158
caenorhabditis_elegans		WBGENE00021219
caenorhabditis_elegans		WBGENE00021220
caenorhabditis_elegans		WBGENE00021223
caenorhabditis_elegans		WBGENE00021226

Paralogs (12): SLC17A9 (ENSG00000101194), 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

Vesicular glutamate transporter 2 — Q9P2U8 (reviewed: Q9P2U8)

Alternative names: Differentiation-associated BNPI, Differentiation-associated Na(+)-dependent inorganic phosphate cotransporter, Solute carrier family 17 member 6

All UniProt accessions (1): Q9P2U8

UniProt curated annotations — full annotation on UniProt →

Function. Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, proton, potassium, sodium and phosphate. At the synaptic vesicle membrane, mainly functions as a uniporter which transports preferentially L-glutamate but also, phosphate from the cytoplasm into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. The L-glutamate or phosphate uniporter activity is electrogenic and is driven by the proton electrochemical gradient, mainly by the electrical gradient established by the vacuolar H(+)-ATPase across the synaptic vesicle membrane. In addition, functions as a chloride channel that allows the chloride permeation through the synaptic vesicle membrane therefore affects the proton electrochemical gradient and promotes synaptic vesicles acidification. Moreover, functions as a vesicular K(+)/H(+) antiport allowing to maintain the electrical gradient and to decrease chemical gradient and therefore sustain vesicular glutamate uptake. The vesicular H(+)/H(+) antiport activity is electroneutral. At the plasma membrane, following exocytosis, functions as a symporter of Na(+) and phosphate from the extracellular space to the cytoplasm allowing synaptic phosphate homeostasis regulation. The symporter activity is driven by an inside negative membrane potential and is electrogenic. Also involved in the regulation of retinal hyaloid vessel regression during postnatal development. May also play a role in the endocrine glutamatergic system of other tissues such as pineal gland and pancreas.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Synapse. Synaptosome. Cell membrane.

Tissue specificity. Predominantly expressed in adult brain. Expressed in amygdala, caudate nucleus, cerebral cortex, frontal lobe, hippocampus, medulla, occipital lobe, putamen, spinal cord, substantia nigra, subthalamic nucleus, temporal lobe and thalamus.

Activity regulation. Chloride channel activity is allosterically activated by lumenal H(+) and Cl(-) leading to synaptic vesicles acidification. The L-glutamate transport activity is allosterically activated by lumenal H(+) and Cl(-). The allosteric requirement for H(+) efficiently prevents non-vesicular efflux across the plasma membrane. The L-glutamate uniporter activity exhibits a biphasic dependence on chloride concentration.

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

RefSeq proteins (1): NP_065079* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011701	MFS	Family
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR050382	MFS_Na/Anion_cotransporter	Family

Pfam: PF07690

Catalyzed reactions (Rhea), 5 shown:

• K(+)(in) + H(+)(out) = K(+)(out) + H(+)(in) (RHEA:29467)
• chloride(in) = chloride(out) (RHEA:29823)
• phosphate(in) = phosphate(out) (RHEA:32823)
• L-glutamate(out) = L-glutamate(in) (RHEA:66336)
• 3 Na(+)(out) + phosphate(out) = 3 Na(+)(in) + phosphate(in) (RHEA:71255)

UniProt features (31 total): topological domain 13, transmembrane region 12, glycosylation site 3, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2U8-F1	78.08	0.50

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (3): 100, 101, 470

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-442660	SLC-mediated transport of neurotransmitters
R-HSA-428643	Organic anion transport by SLC5/17/25 transporters

MSigDB gene sets: 270 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, AAGCAAT_MIR137, BENPORATH_ES_WITH_H3K27ME3, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, EFC_Q6, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_ORGANIC_ACID_TRANSPORT, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, TCF4_Q5, CDP_01

GO Biological Process (19): monoatomic ion transport (GO:0006811), phosphate ion transport (GO:0006817), synaptic transmission, glutamatergic (GO:0035249), sodium-dependent phosphate transport (GO:0044341), regulation of synapse structure or activity (GO:0050803), L-glutamate import (GO:0051938), phosphate ion homeostasis (GO:0055062), neurotransmitter loading into synaptic vesicle (GO:0098700), hyaloid vascular plexus regression (GO:1990384), sodium ion transport (GO:0006814), chloride transport (GO:0006821), neurotransmitter transport (GO:0006836), L-glutamate transmembrane transport (GO:0015813), monoatomic ion transmembrane transport (GO:0034220), sodium ion transmembrane transport (GO:0035725), transmembrane transport (GO:0055085), potassium ion transmembrane transport (GO:0071805), chloride transmembrane transport (GO:1902476), proton transmembrane transport (GO:1902600)

GO Molecular Function (10): chloride channel activity (GO:0005254), L-glutamate transmembrane transporter activity (GO:0005313), neurotransmitter transmembrane transporter activity (GO:0005326), sodium:phosphate symporter activity (GO:0005436), potassium:proton antiporter activity (GO:0015386), L-glutamate uniporter activity (GO:0140788), secondary active transmembrane transporter activity (GO:0015291), symporter activity (GO:0015293), antiporter activity (GO:0015297), transmembrane transporter activity (GO:0022857)

GO Cellular Component (8): plasma membrane (GO:0005886), synaptic vesicle membrane (GO:0030672), chloride channel complex (GO:0034707), neuron projection (GO:0043005), excitatory synapse (GO:0060076), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
SLC-mediated transmembrane transport	1
SLC-mediated transport of organic anions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
monoatomic cation transmembrane transport	3
inorganic anion transport	2
neurotransmitter transport	2
transmembrane transport	2
secondary active transmembrane transporter activity	2
chemical synaptic transmission	1
phosphate ion transport	1
regulation of biological quality	1
dicarboxylic acid transport	1
acidic amino acid transport	1
L-amino acid transport	1
inorganic ion homeostasis	1
intercellular transport	1
establishment of localization in cell	1
synaptic vesicle cycle	1
camera-type eye development	1
anatomical structure regression	1
metal ion transport	1
monoatomic anion transport	1
L-glutamate import	1
L-alpha-amino acid transmembrane transport	1
monoatomic ion transport	1
sodium ion transport	1
cellular process	1
potassium ion transport	1
chloride transport	1
monoatomic anion transmembrane transport	1
monoatomic anion channel activity	1
chloride transmembrane transporter activity	1
dicarboxylic acid transmembrane transporter activity	1
acidic amino acid transmembrane transporter activity	1
L-amino acid transmembrane transporter activity	1
L-glutamate transmembrane transport	1
transmembrane transporter activity	1
phosphate transmembrane transporter activity	1
solute:sodium symporter activity	1
solute:potassium antiporter activity	1
metal cation:proton antiporter activity	1
L-glutamate transmembrane transporter activity	1

Protein interactions and networks

STRING

2386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC17A6	SLC32A1	Q9H598	898
SLC17A6	GAD1	Q99259	874
SLC17A6	GAD2	Q05329	806
SLC17A6	DLG4	P78352	757
SLC17A6	SLC1A2	P43004	754
SLC17A6	SLC6A3	Q01959	748
SLC17A6	PVALB	P20472	746
SLC17A6	SLC6A5	Q9Y345	723
SLC17A6	TH	P07101	711
SLC17A6	CALB1	P05937	710
SLC17A6	SLC18A3	Q16572	708
SLC17A6	RIC8B	Q9NVN3	696
SLC17A6	RBFOX3	A6NFN3	690
SLC17A6	DDC	P20711	690
SLC17A6	CALB2	P22676	685

IntAct

4 interactions, top by confidence:

A	B	Type	Score
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
SLC17A6	SCAMP3	psi-mi:“MI:0914”(association)	0.350

BioGRID (34): SLC17A6 (Biochemical Activity), SLC17A6 (Cross-Linking-MS (XL-MS)), SLC17A6 (Co-fractionation), SLC17A6 (Co-fractionation), SLC17A6 (Co-fractionation), ACAA2 (Affinity Capture-MS), ATP6V0A1 (Affinity Capture-MS), ATP6V0D1 (Affinity Capture-MS), BAG6 (Affinity Capture-MS), ADCK3 (Affinity Capture-MS), DENND4C (Affinity Capture-MS), ENO1 (Affinity Capture-MS), FASN (Affinity Capture-MS), FKBP8 (Affinity Capture-MS), FLOT1 (Affinity Capture-MS)

ESM2 similar proteins: A4FV52, A6QLI1, O00476, O00624, O61369, O62786, P34272, P34644, P38142, Q03567, Q05B21, Q10046, Q14916, Q1L8X9, Q21455, Q28722, Q2QWW7, Q32LF0, Q3TXX4, Q3UHK1, Q5NCM1, Q5SZA1, Q5W8I7, Q5W8I8, Q61983, Q62634, Q62795, Q66KG0, Q6INC8, Q7TSF2, Q7ZX53, Q8BFU8, Q8BLE7, Q8NDX2, Q921A2, Q95R48, Q961J5, Q96QE2, Q9C757, Q9FKV1

Diamond homologs: A4FV52, A6QLI1, O00476, O00624, O61369, O82390, P34644, Q03567, Q05B21, Q0IZQ3, Q10046, Q14916, Q1L8X9, Q28722, Q2QWW7, Q32LF0, Q3E9A0, Q3TXX4, Q53P54, Q5NCM1, Q5Q0U0, Q5SZA1, Q5W8I7, Q5W8I8, Q61983, Q62634, Q62795, Q652N5, Q66GI9, Q6INC8, Q7TSF2, Q8BFU8, Q8BLE7, Q8BN82, Q8GX78, Q8NDX2, Q9FKV1, Q9JI12, Q9MZD1, Q9NRA2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	0
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1329 predictions. Top by Δscore:

Variant	Effect	Δscore
11:22340117:C:G	donor_gain	1.0000
11:22341778:G:GT	donor_gain	1.0000
11:22343235:A:AG	acceptor_gain	1.0000
11:22343236:C:G	acceptor_gain	1.0000
11:22343244:T:G	acceptor_gain	1.0000
11:22343244:TA:T	acceptor_loss	1.0000
11:22343245:A:AG	acceptor_gain	1.0000
11:22343245:AG:A	acceptor_loss	1.0000
11:22343246:G:GG	acceptor_gain	1.0000
11:22343246:G:T	acceptor_loss	1.0000
11:22343246:GA:G	acceptor_gain	1.0000
11:22343246:GAA:G	acceptor_gain	1.0000
11:22343246:GAAA:G	acceptor_gain	1.0000
11:22359407:TTTCA:T	acceptor_loss	1.0000
11:22359408:TTCAG:T	acceptor_loss	1.0000
11:22359409:TCAG:T	acceptor_loss	1.0000
11:22359410:CAGG:C	acceptor_loss	1.0000
11:22359411:A:AG	acceptor_gain	1.0000
11:22359411:AG:A	acceptor_gain	1.0000
11:22359412:G:GA	acceptor_gain	1.0000
11:22359412:GG:G	acceptor_gain	1.0000
11:22359412:GGGTT:G	acceptor_gain	1.0000
11:22359526:AGGTA:A	donor_loss	1.0000
11:22359528:G:GC	donor_loss	1.0000
11:22359529:T:A	donor_loss	1.0000
11:22362826:G:GA	donor_loss	1.0000
11:22362827:T:A	donor_loss	1.0000
11:22365686:GGAA:G	donor_gain	1.0000
11:22365687:G:GT	donor_gain	1.0000
11:22365690:G:GG	donor_gain	1.0000

AlphaMissense

3811 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:22341649:C:A	R70S	1.000
11:22341662:C:A	A74D	1.000
11:22341679:G:C	G80R	1.000
11:22341680:G:A	G80D	1.000
11:22341682:T:C	F81L	1.000
11:22341684:C:A	F81L	1.000
11:22341684:C:G	F81L	1.000
11:22341694:T:C	F85L	1.000
11:22341696:C:A	F85L	1.000
11:22341696:C:G	F85L	1.000
11:22341697:G:C	G86R	1.000
11:22341698:G:A	G86D	1.000
11:22341703:C:A	R88S	1.000
11:22341706:T:C	C89R	1.000
11:22341708:C:G	C89W	1.000
11:22341715:G:C	G92R	1.000
11:22343262:T:A	W119R	1.000
11:22343262:T:C	W119R	1.000
11:22343263:G:C	W119S	1.000
11:22343264:G:C	W119C	1.000
11:22343264:G:T	W119C	1.000
11:22343292:G:C	G129R	1.000
11:22343298:T:C	F131L	1.000
11:22343300:C:A	F131L	1.000
11:22343300:C:G	F131L	1.000
11:22343301:T:A	F132I	1.000
11:22343301:T:C	F132L	1.000
11:22343303:T:A	F132L	1.000
11:22343303:T:G	F132L	1.000
11:22343304:T:A	W133R	1.000

dbSNP variants (sampled 300 via entrez): RS1000089427 (11:22342104 T>C), RS1000131253 (11:22336605 G>A), RS1000139380 (11:22345909 C>T), RS1000171777 (11:22372775 A>C), RS1000326424 (11:22366837 C>G), RS1000338742 (11:22361373 T>C), RS1000371450 (11:22361794 C>T), RS1000377455 (11:22356007 C>A), RS1000388639 (11:22351101 C>T), RS1000475 (11:22345244 T>C,G), RS1000484657 (11:22371822 A>G), RS1000515944 (11:22371536 G>A,C), RS1000549196 (11:22345104 A>G), RS1000549639 (11:22365725 T>A,C), RS1000613301 (11:22366717 C>T)

Disease associations

OMIM: gene MIM:607563 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001877_46	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	6.000000e-06

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 glutamate transporters (VGLUTs)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression	2
Valproic Acid	affects expression, decreases methylation	2
methylmercuric chloride	decreases expression	1
arsenite	increases methylation	1
azoxystrobin	decreases expression	1
deguelin	decreases expression	1
entinostat	decreases expression	1
fenpyroximate	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
pyrimidifen	decreases expression	1
thifluzamide	decreases expression	1
pyrachlostrobin	decreases expression	1
picoxystrobin	decreases expression	1
Cyclic AMP	affects cotreatment, increases expression	1
Antimycin A	decreases expression	1
Ascorbic Acid	affects cotreatment, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression, increases abundance	1
Cytarabine	increases expression	1
Dexamethasone	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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