SLC30A3

Summary

SLC30A3 (solute carrier family 30 member 3, HGNC:11014) is a protein-coding gene on chromosome 2p23.3, encoding Probable proton-coupled zinc antiporter SLC30A3 (Q99726). Probable proton-coupled zinc ion antiporter mediating the import of zinc from cytoplasm into synaptic vesicles and participating to cellular zinc ion homeostasis in the brain.

Enables zinc ion transmembrane transporter activity. Involved in zinc ion import into lysosome. Located in late endosome and synaptic vesicle.

Source: NCBI Gene 7781 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_003459

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11014
Approved symbol	SLC30A3
Name	solute carrier family 30 member 3
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000115194
Ensembl biotype	protein_coding
OMIM	602878
Entrez	7781

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 3 retained_intron

ENST00000233535, ENST00000424577, ENST00000426569, ENST00000426924, ENST00000432351, ENST00000445870, ENST00000450118, ENST00000482990, ENST00000486309, ENST00000497341, ENST00000905077, ENST00000940633, ENST00000940634, ENST00000940635, ENST00000961398

RefSeq mRNA: 4 — MANE Select: NM_003459 NM_001318949, NM_001318950, NM_001318951, NM_003459

CCDS: CCDS1743

Canonical transcript exons

ENST00000233535 — 8 exons

Exon	Start	End
ENSE00000733108	27257905	27258058
ENSE00001078296	27262812	27263047
ENSE00001949460	27253684	27255460
ENSE00003483089	27256386	27256520
ENSE00003520771	27257154	27257352
ENSE00003573958	27256788	27256893
ENSE00003582429	27258753	27258934
ENSE00003678225	27258161	27258307

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 94.67.

FANTOM5 (CAGE): breadth broad, TPM avg 5.2927 / max 189.2507, expressed in 649 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27469	3.5281	532
27470	1.6170	430
27471	0.0989	39
27472	0.0269	12
27475	0.0181	3
27474	0.0037	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	94.67	gold quality
Brodmann (1909) area 10	UBERON:0013541	93.35	gold quality
left testis	UBERON:0004533	92.33	gold quality
right testis	UBERON:0004534	92.23	gold quality
endothelial cell	CL:0000115	90.99	gold quality
prefrontal cortex	UBERON:0000451	90.39	gold quality
testis	UBERON:0000473	89.70	gold quality
right frontal lobe	UBERON:0002810	88.50	gold quality
frontal cortex	UBERON:0001870	88.42	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.16	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.81	gold quality
Brodmann (1909) area 46	UBERON:0006483	87.03	gold quality
middle temporal gyrus	UBERON:0002771	86.53	gold quality
neocortex	UBERON:0001950	86.46	gold quality
superior frontal gyrus	UBERON:0002661	85.83	gold quality
sperm	CL:0000019	85.63	gold quality
male germ cell	CL:0000015	85.40	gold quality
orbitofrontal cortex	UBERON:0004167	85.32	gold quality
frontal pole	UBERON:0002795	85.18	silver quality
cingulate cortex	UBERON:0003027	85.10	gold quality
cerebral cortex	UBERON:0000956	85.06	gold quality
primary visual cortex	UBERON:0002436	85.04	gold quality
anterior cingulate cortex	UBERON:0009835	84.96	gold quality
secondary oocyte	CL:0000655	82.92	gold quality
oocyte	CL:0000023	82.51	gold quality
amygdala	UBERON:0001876	82.24	gold quality
occipital lobe	UBERON:0002021	82.08	gold quality
paraflocculus	UBERON:0005351	81.83	gold quality
postcentral gyrus	UBERON:0002581	81.20	gold quality
temporal lobe	UBERON:0001871	81.10	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-HCAD-38	no	325.96
E-ANND-3	no	3.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

61 targeting SLC30A3, 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-8485	100.00	77.57	4731
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3064-3P	100.00	70.09	1254
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-6856-5P	100.00	65.47	1298
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-6081	99.48	66.07	1446

Literature-anchored findings (GeneRIF, showing 15)

• AIDL cells exhibited a lower expression of zinc transporter 1 (ZnT1) and higher expression of ZnT3 than LNCaP cells. (PMID:14662799)
• hZnT-3 is expressed at low levels in leukocytes. (PMID:17971500)
• Data show that ZNT3 is extensively present in the Abeta-positive plaques in the cortex of human AD brains. (PMID:18639746)
• SLC30A3 (ZnT3) oligomerization by dityrosine bonds regulates its subcellular localization and metal transport capacity (PMID:19521526)
• SNPs in SLC30A3 show a gender-specific association with schizophrenia in an East UK cohort. (PMID:23849395)
• this study provides the first evidence of a role for zinc in depression in people with dementia. (PMID:24953873)
• An association was found between reduced ZnT3 in the prefrontal cortex and cognitive impairment in patients with either dementia with Lewy bodies or Parkinson’s disease dementia. (PMID:25104558)
• The results of this study suggested that ZnT3 protein levels are decreased in the spinal cords of sporadic ALS patients. (PMID:25284286)
• ZNT3 and ZNT8 (known to regulate insulin secretion) have opposite effects on insulin synthesis and secretion possibly by a transcriptional co-regulation since mRNA expression of ZNT3 was inversely correlated to ZNT8 and ZNT3 over-expression reduced insulin synthesis and secretion. (PMID:26867900)
• There was a significant decreased in protein levels of ZnT3 in the prefrontal cortex in Major depression disorder, relative to control subjects. (PMID:27661418)
• The level of ERK1/2 phosphorylation was significantly increased by tunicamycin treatment in control cells, not in SLC30A3 knockdown cells. The ERK1/2 pathway is thought to have an association with defensive effects of SLC30A3 on cellular stress such as ER stress. (PMID:27678294)
• SNPs in the SLC30A3 gene and adjacent region are associated with schizophrenia in female but not male cases. (PMID:27750116)
• ZNT3 was only detected in human beta-cells, but not in mouse beta-cells. (PMID:29372370)
• Increased Cerebrospinal Fluid Concentration of ZnT3 Is Associated with Cognitive Impairment in Alzheimer’s Disease. (PMID:32925049)
• Epigenetic targeting of SLC30A3 by HDAC1 is related to the malignant phenotype of glioblastoma. (PMID:33715270)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Slc30a3	ENSMUSG00000029151
rattus_norvegicus	Slc30a3	ENSRNOG00000006204
drosophila_melanogaster	ZnT35C	FBGN0028516
drosophila_melanogaster	ZnT63C	FBGN0035432
drosophila_melanogaster	ZnT77C	FBGN0037000
drosophila_melanogaster	ZnT33D	FBGN0051860
caenorhabditis_elegans		WBGENE00000393

Paralogs (8): SLC30A4 (ENSG00000104154), SLC30A5 (ENSG00000145740), SLC30A6 (ENSG00000152683), SLC30A2 (ENSG00000158014), SLC30A7 (ENSG00000162695), SLC30A8 (ENSG00000164756), SLC30A1 (ENSG00000170385), SLC30A10 (ENSG00000196660)

Protein

Protein identifiers

Probable proton-coupled zinc antiporter SLC30A3 — Q99726 (reviewed: Q99726)

Alternative names: Solute carrier family 30 member 3, Zinc transporter 3

All UniProt accessions (7): Q99726, C9J1K4, C9JHX4, C9JHZ9, C9JM13, C9JV68, H7BZ83

UniProt curated annotations — full annotation on UniProt →

Function. Probable proton-coupled zinc ion antiporter mediating the import of zinc from cytoplasm into synaptic vesicles and participating to cellular zinc ion homeostasis in the brain.

Subunit / interactions. Homodimer; dityrosine-linked. Homodimerization seems specific of the human protein and enhances the zinc transport efficiency. Interacts with TMEM163.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Synapse. Synaptosome. Late endosome membrane. Lysosome membrane.

Post-translational modifications. Homodimerization through dityrosine bonds is stimulated by oxidative stress.

Similarity. Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.

RefSeq proteins (4): NP_001305878, NP_001305879, NP_001305880, NP_003450* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002524	Cation_efflux	Family
IPR027469	Cation_efflux_TMD_sf	Homologous_superfamily
IPR027470	Cation_efflux_CTD	Domain
IPR036837	Cation_efflux_CTD_sf	Homologous_superfamily
IPR050681	CDF/SLC30A	Family
IPR058533	Cation_efflux_TM	Domain

Pfam: PF01545, PF16916

Catalyzed reactions (Rhea), 1 shown:

• Zn(2+)(in) + 2 H(+)(out) = Zn(2+)(out) + 2 H(+)(in) (RHEA:72627)

UniProt features (26 total): topological domain 7, transmembrane region 6, binding site 4, mutagenesis site 3, cross-link 2, chain 1, region of interest 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9JJ1	ELECTRON MICROSCOPY	2.72
9JJ2	ELECTRON MICROSCOPY	3
8XN1	ELECTRON MICROSCOPY	3.14

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99726-F1	76.41	0.28

Functional residue map

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

Ligand- & substrate-binding residues (4): 108; 112; 238; 242

Post-translational modifications (2): 357, 372

Mutagenesis-validated functional residues (3):

Position	Phenotype
330	no effect on homodimerization.
357	increased homodimerization. increased localization to intracellular vesicles.
372	decreased homodimerization. decreased localization to intracellular vesicles. loss of zinc transporter activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-435368	Zinc efflux and compartmentalization by the SLC30 family

MSigDB gene sets: 228 (showing top): MORF_RAGE, TGGTGCT_MIR29A_MIR29B_MIR29C, CREL_01, MORF_FLT1, BENPORATH_ES_WITH_H3K27ME3, GOBP_RESPONSE_TO_ZINC_ION, MYOGENIN_Q6, GOBP_LYSOSOMAL_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOBP_TRANSITION_METAL_ION_TRANSPORT, GCANCTGNY_MYOD_Q6, AREB6_03, MORF_ATRX, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_DN

GO Biological Process (10): response to zinc ion (GO:0010043), positive regulation of transport (GO:0051050), zinc ion transmembrane transport (GO:0071577), zinc ion import into synaptic vesicle (GO:0099180), zinc ion import into lysosome (GO:0140916), monoatomic ion transport (GO:0006811), monoatomic cation transport (GO:0006812), zinc ion transport (GO:0006829), transmembrane transport (GO:0055085), zinc ion import into organelle (GO:0062111)

GO Molecular Function (5): zinc ion transmembrane transporter activity (GO:0005385), antiporter activity (GO:0015297), metal ion binding (GO:0046872), protein binding (GO:0005515), monoatomic cation transmembrane transporter activity (GO:0008324)

GO Cellular Component (18): cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), late endosome (GO:0005770), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), synaptic vesicle membrane (GO:0030672), late endosome membrane (GO:0031902), neuron projection (GO:0043005), hippocampal mossy fiber (GO:0097457), hippocampal mossy fiber to CA3 synapse (GO:0098686), glutamatergic synapse (GO:0098978), microvesicle (GO:1990742), lysosome (GO:0005764), endosome (GO:0005768), membrane (GO:0016020), transport vesicle membrane (GO:0030658), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Zinc transporters	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
monoatomic cation transmembrane transport	2
intercellular transport	2
zinc ion import into organelle	2
zinc ion transmembrane transport	2
cellular anatomical structure	2
response to metal ion	1
positive regulation of biological process	1
regulation of transport	1
zinc ion transport	1
lysosomal transport	1
vacuolar transmembrane transport	1
monoatomic ion transport	1
transition metal ion transport	1
cellular process	1
transition metal ion transmembrane transporter activity	1
secondary active transmembrane transporter activity	1
cation binding	1
binding	1
monoatomic ion transmembrane transporter activity	1
intracellular anatomical structure	1
lysosome	1
lytic vacuole membrane	1
endosome	1
membrane	1
cell periphery	1
exocytic vesicle	1
presynapse	1
synaptic vesicle	1
exocytic vesicle membrane	1
late endosome	1
endosome membrane	1
plasma membrane bounded cell projection	1
axon	1
thorny excrescence	1
neuron to neuron synapse	1
hippocampal mossy fiber expansion	1
synapse	1
extracellular vesicle	1
lytic vacuole	1

Protein interactions and networks

STRING

1087 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC30A3	AP3D1	O14617	792
SLC30A3	SLC30A9	Q6PML9	777
SLC30A3	SLC39A1	Q9NY26	704
SLC30A3	SLC39A7	Q92504	703
SLC30A3	SLC39A9	Q9NUM3	681
SLC30A3	SLC39A13	Q96H72	674
SLC30A3	EN2	P19622	669
SLC30A3	SLC39A6	Q13433	666
SLC30A3	SLC39A5	Q6ZMH5	666
SLC30A3	SLC39A14	Q15043	656
SLC30A3	SLC39A12	Q504Y0	655
SLC30A3	SLC39A11	Q8N1S5	651
SLC30A3	GPR39	O43194	648
SLC30A3	MT3	P25713	645
SLC30A3	SLC39A8	Q9C0K1	644

IntAct

104 interactions, top by confidence:

A	B	Type	Score
SLC30A3	SLC30A4	psi-mi:“MI:0403”(colocalization)	0.700
SLC30A3	SLC30A4	psi-mi:“MI:0915”(physical association)	0.700
SLC30A4	SLC30A3	psi-mi:“MI:0915”(physical association)	0.700
SLC30A3	SLC30A2	psi-mi:“MI:0403”(colocalization)	0.670
SLC30A3	SLC30A2	psi-mi:“MI:0915”(physical association)	0.670
SLC30A2	SLC30A3	psi-mi:“MI:0915”(physical association)	0.670
SLC30A2	SLC30A3	psi-mi:“MI:0403”(colocalization)	0.670
SLC30A3	OCIAD1	psi-mi:“MI:0915”(physical association)	0.670
SLC30A4	Tfrc	psi-mi:“MI:0914”(association)	0.610
Tfrc	SLC30A4	psi-mi:“MI:0914”(association)	0.610
SLC30A3	NAALADL2	psi-mi:“MI:0915”(physical association)	0.560
NAALADL2	SLC30A3	psi-mi:“MI:0915”(physical association)	0.560
SLC30A3	CGRRF1	psi-mi:“MI:0915”(physical association)	0.560
SLC30A3	GJA8	psi-mi:“MI:0915”(physical association)	0.560
SLC30A3	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
SLC30A3	TMEM242	psi-mi:“MI:0915”(physical association)	0.560
SLC30A3	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
SLC30A3	SGPL1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (82): NAALADL2 (Two-hybrid), SLC30A3 (Two-hybrid), AP3B1 (Reconstituted Complex), SLC30A10 (Affinity Capture-Western), SLC30A3 (Affinity Capture-Western), SLC30A3 (Affinity Capture-Western), SYP (Co-fractionation), SLC30A2 (Co-fractionation), SLC30A4 (Co-fractionation), SLC30A2 (Affinity Capture-Western), SLC30A4 (Affinity Capture-Western), SLC30A3 (Affinity Capture-Western), SLC30A3 (Affinity Capture-MS), DNAJC5 (FRET), SLC30A3 (Two-hybrid)

ESM2 similar proteins: A0A0G2KQY6, A0A3Q7ZPG5, A4IFD7, A5PMX1, A8WMY3, A8X482, O13918, O14863, O35149, O45923, O55174, O80632, P0CE46, P20107, P32798, P97441, Q28CE7, Q2HJ10, Q3KR82, Q52KD7, Q5BJM8, Q5BL29, Q5I020, Q5MNV6, Q5R617, Q5XHB4, Q5ZIU9, Q62941, Q6DBM8, Q6NRI1, Q6P3N9, Q6QIX3, Q8BFU1, Q8BGG0, Q8H329, Q8IWU4, Q8LE59, Q8NEW0, Q91W10, Q99726

Diamond homologs: O14863, O35149, O45923, O55174, P0CE46, P13512, P30540, P75757, P94178, P97441, Q08E25, Q2HJ10, Q54QU8, Q54T06, Q5I020, Q5R617, Q5XHB4, Q62941, Q6DBM8, Q6P0D1, Q6QIX3, Q83SA2, Q8BGG0, Q8IWU4, Q8X400, Q99726, Q9BRI3, Q9LXS1, Q9M271, Q9TTF3, Q9ZT63, A7Z1S6, O07084, Q66D85, Q688R1, Q6D7E5, Q8Z8B6, Q8ZGY6, Q8ZQT3, S7V0D3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
zinc ion transmembrane transport	5	97.5×	1e-07
intracellular zinc ion homeostasis	5	66.9×	6e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	6
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1468 predictions. Top by Δscore:

Variant	Effect	Δscore
2:27255494:C:CT	acceptor_gain	1.0000
2:27255494:C:T	acceptor_gain	1.0000
2:27255495:G:T	acceptor_gain	1.0000
2:27256783:CTCA:C	donor_loss	1.0000
2:27256784:TCAC:T	donor_loss	1.0000
2:27256785:CACC:C	donor_loss	1.0000
2:27256786:A:AC	donor_gain	1.0000
2:27256786:ACCTT:A	donor_gain	1.0000
2:27256787:C:CC	donor_gain	1.0000
2:27256787:CCTT:C	donor_gain	1.0000
2:27256787:CCTTC:C	donor_gain	1.0000
2:27256889:TGAGG:T	acceptor_gain	1.0000
2:27256890:GAGG:G	acceptor_gain	1.0000
2:27256892:GG:G	acceptor_gain	1.0000
2:27256893:GC:G	acceptor_loss	1.0000
2:27256894:C:CC	acceptor_gain	1.0000
2:27257150:GTAC:G	donor_loss	1.0000
2:27257151:TAC:T	donor_loss	1.0000
2:27257152:ACCT:A	donor_loss	1.0000
2:27257153:C:A	donor_loss	1.0000
2:27257893:A:AC	donor_gain	1.0000
2:27257894:C:CC	donor_gain	1.0000
2:27257903:A:AC	donor_gain	1.0000
2:27257904:C:CC	donor_gain	1.0000
2:27257904:CAA:C	donor_gain	1.0000
2:27257920:A:AC	donor_gain	1.0000
2:27257921:C:CC	donor_gain	1.0000
2:27258055:GTCT:G	acceptor_gain	1.0000
2:27258056:TCTCT:T	acceptor_loss	1.0000
2:27258057:CT:C	acceptor_gain	1.0000

AlphaMissense

2486 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:27256864:G:C	S269R	0.998
2:27256864:G:T	S269R	0.998
2:27256866:T:G	S269R	0.998
2:27258288:G:C	S99R	0.998
2:27258288:G:T	S99R	0.998
2:27258290:T:G	S99R	0.998
2:27257193:G:C	S246R	0.997
2:27257193:G:T	S246R	0.997
2:27257195:T:G	S246R	0.997
2:27258228:G:C	S119R	0.997
2:27258228:G:T	S119R	0.997
2:27258230:T:G	S119R	0.997
2:27256852:G:C	F273L	0.996
2:27256852:G:T	F273L	0.996
2:27256854:A:G	F273L	0.996
2:27256875:C:G	D266H	0.996
2:27258177:A:C	F136L	0.996
2:27258177:A:T	F136L	0.996
2:27258179:A:G	F136L	0.996
2:27258240:G:C	S115R	0.996
2:27258240:G:T	S115R	0.996
2:27258242:T:G	S115R	0.996
2:27258289:C:A	S99I	0.996
2:27257205:G:C	D242E	0.995
2:27257205:G:T	D242E	0.995
2:27257206:T:G	D242A	0.995
2:27258023:A:G	W154R	0.995
2:27258023:A:T	W154R	0.995
2:27258269:C:G	A106P	0.995
2:27258270:A:C	D105E	0.995

dbSNP variants (sampled 300 via entrez): RS1000082722 (2:27273662 C>T), RS1000300651 (2:27253614 A>G), RS1000408464 (2:27259710 A>T), RS1000506186 (2:27272680 C>T), RS1000561608 (2:27272204 C>A), RS1000637981 (2:27265171 C>G), RS1000745012 (2:27259075 G>A,C), RS1000844489 (2:27259883 G>T), RS1000987431 (2:27264933 C>T), RS1001497657 (2:27271895 A>C), RS1001564837 (2:27270398 G>A,C), RS1001599697 (2:27273249 T>A), RS1001838453 (2:27259314 G>A), RS1001963654 (2:27272794 G>A), RS1002021072 (2:27277355 C>T)

Disease associations

OMIM: gene MIM:602878 | 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
GCST009391_706	Metabolite levels	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010356	lysophosphatidylcholine 14:0 measurement

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 — SLC30 zinc transporter family

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Zinc	increases transport, decreases expression, increases abundance	3
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	2
Cisplatin	decreases expression, increases expression	2
Valproic Acid	affects expression, increases expression	2
propionaldehyde	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
CGP 52608	increases reaction, affects binding	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
(+)-JQ1 compound	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Aldehydes	increases expression	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Vehicle Emissions	affects cotreatment, increases expression	1
Benzo(a)pyrene	increases methylation	1
Carmustine	decreases expression	1
Catechin	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Folic Acid	decreases expression	1
Lead	affects expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Vanadium	decreases expression	1
Zidovudine	increases expression	1
Metribolone	increases 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_D4LC	HCT116-SLC30A3-KO-c14	Cancer cell line	Male
CVCL_D4LD	HCT116-SLC30A3-KO-c15	Cancer cell line	Male
CVCL_TM90	HAP1 SLC30A3 (-) 1	Cancer cell line	Male
CVCL_TM91	HAP1 SLC30A3 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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