SLC17A7

Summary

SLC17A7 (solute carrier family 17 member 7, HGNC:16704) is a protein-coding gene on chromosome 19q13.33, encoding Vesicular glutamate transporter 1 (Q9P2U7). Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, proton, potassium, sodium and phosphate.

The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family.

Source: NCBI Gene 57030 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_020309

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16704
Approved symbol	SLC17A7
Name	solute carrier family 17 member 7
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	BNPI, VGLUT1
Ensembl gene	ENSG00000104888
Ensembl biotype	protein_coding
OMIM	605208
Entrez	57030

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000221485, ENST00000596689, ENST00000598018, ENST00000600601, ENST00000600672, ENST00000922429, ENST00000969901, ENST00000969902

RefSeq mRNA: 1 — MANE Select: NM_020309 NM_020309

CCDS: CCDS12764

Canonical transcript exons

ENST00000221485 — 12 exons

Exon	Start	End
ENSE00000719534	49429401	49430812
ENSE00001116482	49441318	49441527
ENSE00003485722	49432519	49432651
ENSE00003500571	49431338	49431448
ENSE00003529449	49434602	49434689
ENSE00003535516	49436549	49436801
ENSE00003544180	49433960	49434046
ENSE00003559467	49432811	49432960
ENSE00003574259	49434768	49434882
ENSE00003578637	49433726	49433868
ENSE00003591705	49435168	49435286
ENSE00003604019	49431015	49431142

Expression profiles

Bgee: expression breadth ubiquitous, 191 present calls, max score 99.31.

FANTOM5 (CAGE): breadth broad, TPM avg 9.0072 / max 742.6344, expressed in 320 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182035	8.6203	295
182037	0.1378	50
182033	0.0880	43
208895	0.0708	33
182034	0.0503	31
182032	0.0399	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	99.31	gold quality
cerebellar hemisphere	UBERON:0002245	99.28	gold quality
cerebellar cortex	UBERON:0002129	99.27	gold quality
right frontal lobe	UBERON:0002810	99.16	gold quality
superior frontal gyrus	UBERON:0002661	99.13	gold quality
Brodmann (1909) area 10	UBERON:0013541	99.08	gold quality
cerebellum	UBERON:0002037	99.06	gold quality
frontal pole	UBERON:0002795	99.05	gold quality
CA1 field of hippocampus	UBERON:0003881	99.03	gold quality
prefrontal cortex	UBERON:0000451	98.97	gold quality
middle temporal gyrus	UBERON:0002771	98.96	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.93	gold quality
frontal cortex	UBERON:0001870	98.79	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.76	gold quality
orbitofrontal cortex	UBERON:0004167	98.74	gold quality
cingulate cortex	UBERON:0003027	98.61	gold quality
anterior cingulate cortex	UBERON:0009835	98.61	gold quality
postcentral gyrus	UBERON:0002581	98.50	gold quality
parietal lobe	UBERON:0001872	98.47	gold quality
paraflocculus	UBERON:0005351	98.46	gold quality
amygdala	UBERON:0001876	98.36	gold quality
Ammon’s horn	UBERON:0001954	98.29	gold quality
neocortex	UBERON:0001950	98.24	gold quality
cerebral cortex	UBERON:0000956	98.15	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.01	gold quality
temporal lobe	UBERON:0001871	97.93	gold quality
primary visual cortex	UBERON:0002436	97.68	gold quality
occipital lobe	UBERON:0002021	97.45	gold quality
entorhinal cortex	UBERON:0002728	97.23	gold quality
cerebellar vermis	UBERON:0004720	97.21	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	204.26
E-HCAD-35	yes	53.53
E-GEOD-137537	yes	17.59
E-ANND-3	no	3.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

102 targeting SLC17A7, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440

Literature-anchored findings (GeneRIF, showing 16)

• In schizophrenia, VGLUT1 mRNA was decreased in hippocampal formation and dorsolateral prefrontal cortex. In the hippocampus, the loss of VGLUT1 mRNA supports data indicating that glutamatergic presynaptic deficits are prominent. (PMID:15653259)
• Alterations in the pattern of vesicular glutamate transporter 1-immunoreactivity that perfectly matched the neuronal loss and gliosis, as well as the decrease in the number of asymmetrical synapses identified by electron microscopy in this tissue (PMID:15961236)
• 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 VGLUT1. (PMID:17660252)
• We found increased VGLUT1 transcript and reduced VGLUT1 protein expression in the ACC, but not DLPFC, in schizophrenia. (PMID:18155679)
• this study suggests that the common genetic variants of the VGLUT1 gene appear not play a major role in conferring susceptibility to schizophrenia in Han population of Taiwan. (PMID:19720501)
• This study found decreased VGLUT1 mRNA expression in both major depressive disorder and bipolar disorder in the entorhinal cortex. (PMID:19839996)
• We examined the ratio of excitatory to inhibitory vesicular neurotransmitter transporter mRNAs (VGluT1 to VGAT) and their ratio in the dorsolateral prefrontal cortex during normal human development and in people with schizophrenia (PMID:21396926)
• 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)
• Depressed patients showed significant decreases in synaptophysin (SYN) and VGLUT1 expression, whereas in bipolar patients, decreases in VGLUT1 expression have also been found. (PMID:23022470)
• Loss of SLC17A7 expression is associated with glioblastoma. (PMID:25749033)
• Results suggest that activation of JNK in Alzheimer’s disease (AD) inhibits insulin signaling which could lead to a decreased expression of VGLUT1, therefore contributing to the glutamatergic deficit in AD (PMID:26836159)
• This study was the first to demonstrate an association between genetic polymorphism at rs7417284 SNP in the promoter region of the SLC17A7 gene and concussion severity and duration. Based upon these findings, rs74174284 is a potential predictive genetic marker for identifying athletes who are more susceptible for altered recovery times and worse motor speed ImPACT scores after sport-related concussion. (PMID:27029226)
• Study revealed susceptibility of glutamatergic nerve terminals to Abeta induced toxicity and underlined the importance of VGLUT1 in the progression of Alzheimer’s disease, as the decrease of this protein levels could increase the susceptibility to subsequent deleterious inputs by exacerbating Abeta induced neuroinflammation and synaptic plasticity disruption. (PMID:27258819)
• The findings of this study indicate that Slc17A7 located on 1p/19q may simultaneously influence tumor development. (PMID:29890994)
• In mammals, VGLUT1 gained a proline-rich sequence that recruits endophilinA1 and turns the transporter into a regulator of synaptic vesicles organization and spontaneous release. (PMID:31663854)

Cross-species orthologs

52 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc17a7a	ENSDARG00000016480
danio_rerio	slc17a7b	ENSDARG00000090106
mus_musculus	Slc17a7	ENSMUSG00000070570
rattus_norvegicus	Slc17a7	ENSRNOG00000020650
drosophila_melanogaster	dmGlut	FBGN0010497
drosophila_melanogaster	MFS14	FBGN0010651
drosophila_melanogaster	Picot	FBGN0024315
drosophila_melanogaster	CG9254	FBGN0028513
drosophila_melanogaster	CG6978	FBGN0029727
drosophila_melanogaster	VGlut	FBGN0031424
drosophila_melanogaster	CG7881	FBGN0033048
drosophila_melanogaster	MFS12	FBGN0033234
drosophila_melanogaster	MFS15	FBGN0034392
drosophila_melanogaster	CG15096	FBGN0034394
drosophila_melanogaster	MFS16	FBGN0034611
drosophila_melanogaster	CG12490	FBGN0034782
drosophila_melanogaster	CG9825	FBGN0034783
drosophila_melanogaster	CG9826	FBGN0034784
drosophila_melanogaster	CG3649	FBGN0034785
drosophila_melanogaster	CG2003	FBGN0039886
drosophila_melanogaster	CG30265	FBGN0050265
drosophila_melanogaster	MFS1	FBGN0050272
caenorhabditis_elegans		WBGENE00001135
caenorhabditis_elegans		WBGENE00007669
caenorhabditis_elegans		WBGENE00008000
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
caenorhabditis_elegans		WBGENE00302978

Paralogs (12): SLC17A6 (ENSG00000091664), SLC17A9 (ENSG00000101194), 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 1 — Q9P2U7 (reviewed: Q9P2U7)

Alternative names: Brain-specific Na(+)-dependent inorganic phosphate cotransporter, Solute carrier family 17 member 7

All UniProt accessions (2): Q9P2U7, M0R1S5

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 an 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 a chloride permeation through the synaptic vesicle membrane that affects the proton electrochemical gradient and promotes synaptic vesicles acidification. Moreover, may function as a K(+)/H(+) antiport allowing to maintain the electrical gradient and to decrease chemical gradient and therefore sustain vesicular glutamate uptake. The vesicular K(+)/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. Is necessary for synaptic signaling of visual-evoked responses from photoreceptors.

Subunit / interactions. Interacts with SHANK3.

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

Tissue specificity. Expressed in several regions of the brain including amygdala, cerebellum, cerebral cortex, hippocampus, frontal lobe, medulla, occipital lobe, putamen and temporal lobe.

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 activation by H(+) efficiently prevents non-vesicular efflux across the plasma membrane, thereby restricting L-glutamate transport activity to acidic membranes such as synaptic vesicles.

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

Isoforms (3)

UniProt ID	Names	Canonical?
Q9P2U7-1	1	yes
Q9P2U7-2	2
Q9P2U7-3	3

RefSeq proteins (1): NP_064705* (*=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 (34 total): topological domain 13, transmembrane region 12, compositionally biased region 3, splice variant 2, chain 1, region of interest 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2U7-F1	80.17	0.42

Functional residue map

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

Post-translational modifications (1): 504

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-210500	Glutamate Neurotransmitter Release Cycle
R-HSA-442660	SLC-mediated transport of neurotransmitters
R-HSA-428643	Organic anion transport by SLC5/17/25 transporters

MSigDB gene sets: 268 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOBP_MEMORY, BENPORATH_ES_WITH_H3K27ME3, GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_NEUROTRANSMITTER_UPTAKE, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEURAL_RETINA_DEVELOPMENT, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, CACCAGC_MIR138, MORF_RAD51L3

GO Biological Process (27): neurotransmitter uptake (GO:0001504), neural retina development (GO:0003407), monoatomic ion transport (GO:0006811), potassium ion transport (GO:0006813), phosphate ion transport (GO:0006817), chloride transport (GO:0006821), neurotransmitter transport (GO:0006836), long-term memory (GO:0007616), L-glutamate transmembrane transport (GO:0015813), synaptic transmission, glutamatergic (GO:0035249), phosphate ion transmembrane transport (GO:0035435), sodium-dependent phosphate transport (GO:0044341), regulation of synapse structure or activity (GO:0050803), phosphate ion homeostasis (GO:0055062), synaptic vesicle lumen acidification (GO:0097401), neurotransmitter loading into synaptic vesicle (GO:0098700), regulation of synaptic vesicle endocytosis (GO:1900242), sodium ion transport (GO:0006814), chemical synaptic transmission (GO:0007268), monoatomic ion transmembrane transport (GO:0034220), sodium ion transmembrane transport (GO:0035725), establishment of localization in cell (GO:0051649), L-glutamate import (GO:0051938), transmembrane transport (GO:0055085), excitatory postsynaptic potential (GO:0060079), potassium ion transmembrane transport (GO:0071805), chloride transmembrane transport (GO:1902476)

GO Molecular Function (12): chloride channel activity (GO:0005254), L-glutamate transmembrane transporter activity (GO:0005313), neurotransmitter transmembrane transporter activity (GO:0005326), sodium:phosphate symporter activity (GO:0005436), extracellularly glutamate-gated chloride channel activity (GO:0008068), potassium:proton antiporter activity (GO:0015386), phosphate ion uniporter activity (GO:0140787), 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 (13): plasma membrane (GO:0005886), membrane (GO:0016020), synaptic vesicle membrane (GO:0030672), chloride channel complex (GO:0034707), cerebellar mossy fiber (GO:0044300), presynaptic active zone (GO:0048786), excitatory synapse (GO:0060076), clathrin-sculpted glutamate transport vesicle membrane (GO:0060203), postsynapse (GO:0098794), synaptic vesicle (GO:0008021), cytoplasmic vesicle (GO:0031410), neuron projection (GO:0043005), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Neurotransmitter release cycle	1
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
neurotransmitter transport	3
transmembrane transport	3
cellular anatomical structure	3
transport	2
metal ion transport	2
inorganic anion transport	2
phosphate ion transport	2
intercellular transport	2
establishment of localization in cell	2
synaptic vesicle cycle	2
phosphate transmembrane transporter activity	2
membrane potential driven uniporter activity	2
secondary active transmembrane transporter activity	2
presynapse	2
synapse	2
import into cell	1
anatomical structure development	1
retina development in camera-type eye	1
monoatomic anion transport	1
memory	1
L-glutamate import	1
L-alpha-amino acid transmembrane transport	1
chemical synaptic transmission	1
regulation of biological quality	1
inorganic ion homeostasis	1
synaptic vesicle maturation	1
neuron cellular homeostasis	1
proton transmembrane transport	1
regulation of endocytosis	1
synaptic vesicle endocytosis	1
regulation of synaptic vesicle recycling	1
anterograde trans-synaptic signaling	1
monoatomic ion 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

Protein interactions and networks

STRING

2776 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC17A7	DLG4	P78352	976
SLC17A7	SLC32A1	Q9H598	960
SLC17A7	SYN1	P17600	865
SLC17A7	SYP	P08247	860
SLC17A7	GAD2	Q05329	855
SLC17A7	GAD1	Q99259	833
SLC17A7	GRIA1	P42261	830
SLC17A7	SYN2	Q92777	816
SLC17A7	SYN3	O14994	803
SLC17A7	SLC1A2	P43004	802
SLC17A7	SLC18A3	Q16572	802
SLC17A7	HOMER1	Q86YM7	800
SLC17A7	SH3GL2	Q99962	792
SLC17A7	GRIA2	P42262	787
SLC17A7	GFAP	P14136	785

IntAct

5 interactions, top by confidence:

A	B	Type	Score
DNAJC5	SLC17A7	psi-mi:“MI:0915”(physical association)	0.400
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
APBB1	ATP2A2	psi-mi:“MI:0914”(association)	0.350
SLC17A7	SGTA	psi-mi:“MI:0914”(association)	0.350

BioGRID (17): DNAJC5 (FRET), SLC17A7 (Affinity Capture-Luminescence), SLC17A7 (Co-localization), SLC17A7 (Negative Genetic), SLC17A7 (Positive Genetic), SLC17A7 (Affinity Capture-MS), BAG6 (Affinity Capture-MS), CACYBP (Affinity Capture-MS), CSNK1A1 (Affinity Capture-MS), DNAJB1 (Affinity Capture-MS), DNAJC7 (Affinity Capture-MS), GBA (Affinity Capture-MS), GET4 (Affinity Capture-MS), C1orf27 (Affinity Capture-MS), SGTA (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4ILB2, A0A8M9Q308, A2CER7, A2SWM2, A2ZN77, A4FV52, A8WGF7, B0S6T2, O23596, O62786, P11170, P30638, P36836, P46029, P46059, P51574, P60815, Q05B21, Q0ILJ3, Q10R54, Q16348, Q1L8X9, Q28FF3, Q3TXX4, Q5M7K3, Q5XGK0, Q62634, Q63424, Q6INC8, Q7TSF2, Q7ZU13, Q8AVC3, Q8BFU8, Q8TDB8, Q8WMX5, Q91X85, Q9C5L3, Q9C8X2, Q9ES07, Q9FE59

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	2
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1743 predictions. Top by Δscore:

Variant	Effect	Δscore
19:49430618:AG:A	donor_gain	1.0000
19:49430625:T:TA	donor_gain	1.0000
19:49430808:CGAGT:C	acceptor_gain	1.0000
19:49430809:GAGT:G	acceptor_gain	1.0000
19:49430811:GT:G	acceptor_gain	1.0000
19:49430813:C:CC	acceptor_gain	1.0000
19:49430813:CTGC:C	acceptor_loss	1.0000
19:49431012:CAC:C	donor_loss	1.0000
19:49431013:ACCTT:A	donor_loss	1.0000
19:49431138:GAACC:G	acceptor_gain	1.0000
19:49431139:AACC:A	acceptor_gain	1.0000
19:49431140:ACC:A	acceptor_gain	1.0000
19:49431141:CC:C	acceptor_gain	1.0000
19:49431141:CCC:C	acceptor_gain	1.0000
19:49431141:CCCT:C	acceptor_loss	1.0000
19:49431142:CC:C	acceptor_gain	1.0000
19:49431143:C:CC	acceptor_gain	1.0000
19:49431143:C:T	acceptor_gain	1.0000
19:49431143:CTGGC:C	acceptor_loss	1.0000
19:49431147:C:CT	acceptor_gain	1.0000
19:49431148:G:T	acceptor_gain	1.0000
19:49431333:CTCA:C	donor_loss	1.0000
19:49431334:TCACC:T	donor_loss	1.0000
19:49431335:CACCA:C	donor_loss	1.0000
19:49431336:A:AC	donor_gain	1.0000
19:49431336:ACCA:A	donor_loss	1.0000
19:49431337:C:CC	donor_gain	1.0000
19:49431337:C:CG	donor_loss	1.0000
19:49431448:CCT:C	acceptor_loss	1.0000
19:49431449:C:CA	acceptor_loss	1.0000

AlphaMissense

3664 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:49430711:C:A	W497C	1.000
19:49430711:C:G	W497C	1.000
19:49430713:A:G	W497R	1.000
19:49430713:A:T	W497R	1.000
19:49430727:C:T	G492E	1.000
19:49430728:C:G	G492R	1.000
19:49430728:C:T	G492R	1.000
19:49430733:G:T	A490D	1.000
19:49430757:C:T	G482D	1.000
19:49430758:C:G	G482R	1.000
19:49430778:G:T	A475D	1.000
19:49430787:A:G	F472S	1.000
19:49430798:C:A	W468C	1.000
19:49430798:C:G	W468C	1.000
19:49430800:A:G	W468R	1.000
19:49430800:A:T	W468R	1.000
19:49431048:G:C	C452W	1.000
19:49431049:C:T	C452Y	1.000
19:49431050:A:G	C452R	1.000
19:49431055:A:T	M450K	1.000
19:49431058:C:T	G449D	1.000
19:49431059:C:A	G449C	1.000
19:49431059:C:G	G449R	1.000
19:49431070:C:A	G445V	1.000
19:49431070:C:T	G445D	1.000
19:49431071:C:G	G445R	1.000
19:49431076:C:T	G443D	1.000
19:49431077:C:G	G443R	1.000
19:49431078:G:C	N442K	1.000
19:49431078:G:T	N442K	1.000

dbSNP variants (sampled 300 via entrez): RS1000074421 (19:49442027 C>T), RS1000290915 (19:49439407 G>C), RS1000351979 (19:49433722 G>A), RS1000468671 (19:49439699 C>A,T), RS1000529035 (19:49440030 A>T), RS1000897899 (19:49438308 C>T), RS1001025599 (19:49434116 G>A,T), RS1001202858 (19:49441258 G>A), RS1001677972 (19:49428989 C>T), RS1001972483 (19:49443011 C>A,G,T), RS1002182141 (19:49433582 C>A,T), RS1002362595 (19:49439990 G>A,C), RS1002640850 (19:49433963 A>G), RS1002682117 (19:49431592 C>A,G), RS1002703368 (19:49433285 G>A,C)

Disease associations

OMIM: gene MIM:605208 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

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

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	4
Benzo(a)pyrene	affects methylation, increases methylation	2
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
sodium arsenite	increases expression	1
tetrachlorodian	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
clothianidin	decreases expression	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
trametinib	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Cyclic AMP	affects cotreatment, increases expression	1
Ascorbic Acid	affects cotreatment, increases expression	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Ivermectin	increases expression	1
Lead	affects expression	1
Niclosamide	increases expression	1
Phosphates	affects cotreatment, increases transport	1
Plant Extracts	affects cotreatment, decreases expression	1
Silver	decreases expression	1
Sodium	affects cotreatment, increases transport	1
Tretinoin	affects expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4EL	1321N1-SLC17A7-KO-c13	Cancer cell line	Male
CVCL_D4EM	1321N1-SLC17A7-KO-c16	Cancer cell line	Male

Clinical trials (associated diseases)

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