SLC39A10

Summary

SLC39A10 (solute carrier family 39 member 10, HGNC:20861) is a protein-coding gene on chromosome 2q32.3, encoding Zinc transporter ZIP10 (Q9ULF5). Zinc-influx transporter. It is a selective cancer dependency (DepMap: 31.2% of cell lines).

Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).

Source: NCBI Gene 57181 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 97 total
• Cancer dependency (DepMap): dependent in 31.2% of screened cell lines
• MANE Select transcript: NM_020342

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20861
Approved symbol	SLC39A10
Name	solute carrier family 39 member 10
Location	2q32.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1265, FLJ90515, DKFZp564L2123, ZIP10
Ensembl gene	ENSG00000196950
Ensembl biotype	protein_coding
OMIM	608733
Entrez	57181

Gene structure

Transcript identifiers

Ensembl transcripts: 47 — 43 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000359634, ENST00000409086, ENST00000412905, ENST00000418005, ENST00000430412, ENST00000444421, ENST00000458054, ENST00000464301, ENST00000465851, ENST00000867303, ENST00000867304, ENST00000867305, ENST00000867306, ENST00000867307, ENST00000867308, ENST00000919571, ENST00000919572, ENST00000919573, ENST00000919574, ENST00000919575, ENST00000919576, ENST00000919577, ENST00000919578, ENST00000919579, ENST00000919580, ENST00000919581, ENST00000919582, ENST00000919583, ENST00000919584, ENST00000919585, ENST00000919586, ENST00000919587, ENST00000919588, ENST00000919589, ENST00000919590, ENST00000919591, ENST00000919592, ENST00000919593, ENST00000919594, ENST00000919595, ENST00000919596, ENST00000919597, ENST00000919598, ENST00000919599, ENST00000956076, ENST00000956077, ENST00000956078

RefSeq mRNA: 2 — MANE Select: NM_020342 NM_001127257, NM_020342

CCDS: CCDS33353

Canonical transcript exons

ENST00000359634 — 10 exons

Exon	Start	End
ENSE00001400249	195680032	195681050
ENSE00003556626	195718252	195718332
ENSE00003560348	195706616	195706785
ENSE00003560904	195708656	195708844
ENSE00003603452	195683699	195683906
ENSE00003645146	195728159	195728349
ENSE00003665054	195713433	195713553
ENSE00003671434	195716637	195717005
ENSE00003848195	195734883	195737700
ENSE00003850270	195657226	195657281

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 98.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.7450 / max 1377.9470, expressed in 1800 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24424	26.1322	1745
24425	6.9831	1607
24422	2.4409	982
24423	1.5920	758
24420	0.6948	298
24421	0.4153	188
24433	0.3058	130
24419	0.2723	125
24428	0.2615	87
24434	0.2304	95

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	98.32	gold quality
secondary oocyte	CL:0000655	98.06	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.29	gold quality
superior frontal gyrus	UBERON:0002661	96.76	gold quality
oocyte	CL:0000023	96.55	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.15	gold quality
adrenal tissue	UBERON:0018303	95.57	gold quality
germinal epithelium of ovary	UBERON:0001304	95.49	gold quality
postcentral gyrus	UBERON:0002581	95.38	gold quality
right lobe of thyroid gland	UBERON:0001119	95.15	gold quality
parietal lobe	UBERON:0001872	94.91	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.49	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.45	gold quality
left lobe of thyroid gland	UBERON:0001120	94.41	gold quality
prefrontal cortex	UBERON:0000451	94.16	gold quality
thyroid gland	UBERON:0002046	94.13	gold quality
ventricular zone	UBERON:0003053	93.93	gold quality
frontal cortex	UBERON:0001870	93.65	gold quality
entorhinal cortex	UBERON:0002728	93.54	gold quality
ganglionic eminence	UBERON:0004023	93.28	gold quality
neocortex	UBERON:0001950	93.26	gold quality
cerebral cortex	UBERON:0000956	93.20	gold quality
calcaneal tendon	UBERON:0003701	93.09	gold quality
primary visual cortex	UBERON:0002436	92.93	gold quality
occipital lobe	UBERON:0002021	92.36	gold quality
anterior cingulate cortex	UBERON:0009835	91.91	gold quality
parietal pleura	UBERON:0002400	91.56	gold quality
stromal cell of endometrium	CL:0002255	91.54	gold quality
right uterine tube	UBERON:0001302	91.43	gold quality
temporal lobe	UBERON:0001871	91.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	6.41
E-ANND-3	yes	4.35

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MTF1, ZNF20

miRNA regulators (miRDB)

238 targeting SLC39A10, 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-3646	100.00	73.56	5283
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-4666A-3P	99.96	71.71	3434

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 31.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 10)

• Zinc and its transporters, ZIP6 and ZIP10, are required for the breast cancer cells motility stimulated with high glucose level, such as in diabetes. (PMID:24587242)
• A significant correlation between ZIP10 mRNA expressions with aggressiveness of RCC. (PMID:25200496)
• Slc39a10 plays a role in promoting the survival of macrophages through a Zn/p53-dependent axis in response to inflammatory stimuli. (PMID:29180421)
• ZIP10 is found in the proximal tubules collecting duct system and has a role in renal zinc transport. (PMID:30520657)
• Possible involvement of zinc transporter ZIP10 in atopic dermatitis. (PMID:31875492)
• The ZIP6/ZIP10 heteromer is essential for the zinc-mediated trigger of mitosis. (PMID:32797246)
• ZIP10 drives osteosarcoma proliferation and chemoresistance through ITGA10-mediated activation of the PI3K/AKT pathway. (PMID:34706747)
• The bZIP transcription factor BATF3/ZIP-10 suppresses innate immunity by attenuating PMK-1/p38 signaling. (PMID:36409527)
• Functional characterization of SLC39 family members ZIP5 and ZIP10 in overexpressing HEK293 cells reveals selective copper transport activity. (PMID:36454509)
• SLC39A10 promotes malignant phenotypes of gastric cancer cells by activating the CK2-mediated MAPK/ERK and PI3K/AKT pathways. (PMID:37524874)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc39a10	ENSDARG00000005823
mus_musculus	Slc39a10	ENSMUSG00000025986
rattus_norvegicus	Slc39a10	ENSRNOG00000011677
drosophila_melanogaster	foi	FBGN0024236

Paralogs (6): SLC39A14 (ENSG00000104635), SLC39A8 (ENSG00000138821), SLC39A5 (ENSG00000139540), SLC39A6 (ENSG00000141424), SLC39A4 (ENSG00000147804), SLC39A12 (ENSG00000148482)

Protein

Protein identifiers

Zinc transporter ZIP10 — Q9ULF5 (reviewed: Q9ULF5)

Alternative names: Solute carrier family 39 member 10, Zrt- and Irt-like protein 10

All UniProt accessions (5): C9J0F5, E7ENT5, E7EV45, F2Z341, Q9ULF5

UniProt curated annotations — full annotation on UniProt →

Function. Zinc-influx transporter. When associated with SLC39A6, the heterodimer formed by SLC39A10 and SLC39A6 mediates cellular zinc uptake to trigger cells to undergo epithelial-to-mesenchymal transition (EMT). SLC39A10-SLC39A6 heterodimers play also an essentiel role in initiating mitosis by importing zinc into cells to initiate a pathway resulting in the onset of mitosis. Plays an important for both mature B-cell maintenance and humoral immune responses. When associated with SLC39A10, the heterodimer controls NCAM1 phosphorylation and integration into focal adhesion complexes during EMT.

Subunit / interactions. Interacts with SLC39A6; which triggers cells to undergo EMT and mitosis. Found in a complex with SLC39A6, SLC39A10 and with the ‘Ser-727’ phosphorylated form of STAT3 throughout mitosis. Found in a complex with SLC39A6, SLC39A10 and with NCAM1; this complex controls NCAM1 phosphorylation and integration into focal adhesion complexes during epithelial-tomesenchymal transition. Found in a complex with SLC39A6, SLC39A10 and with GSK3B that controls NCAM1 phosphorylation.

Subcellular location. Cell membrane. Apical cell membrane.

Post-translational modifications. Undergoes N-terminal ectodomain shedding.

Induction. Up-regulated in several breast cancer lines, and correlated to cancer progression as a marker of metastatic breast cancer.

Similarity. Belongs to the ZIP transporter (TC 2.A.5) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9ULF5-1	1	yes
Q9ULF5-2	2

RefSeq proteins (2): NP_001120729, NP_065075* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003689	ZIP	Family
IPR050799	ZIP_Transporter	Family

Pfam: PF02535

Catalyzed reactions (Rhea), 1 shown:

• Zn(2+)(in) = Zn(2+)(out) (RHEA:29351)

UniProt features (29 total): compositionally biased region 8, transmembrane region 7, glycosylation site 4, modified residue 3, region of interest 2, signal peptide 1, chain 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULF5-F1	58.43	0.08

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 (3): 536, 553, 591

Glycosylation sites (4): 139, 198, 218, 339

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-442380	Zinc influx into cells by the SLC39 gene family
R-HSA-382551	Transport of small molecules
R-HSA-425366
R-HSA-425407	SLC-mediated transmembrane transport
R-HSA-425410	Metal ion SLC transporters
R-HSA-435354	Zinc transporters

MSigDB gene sets: 270 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_REGULATION_OF_B_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GGTGTGT_MIR329, MODULE_169, GOBP_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_B_CELL_ACTIVATION, GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_B_CELL_PROLIFERATION, GOBP_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS, ATGCAGT_MIR217

GO Biological Process (13): epithelial to mesenchymal transition (GO:0001837), negative regulation of B cell apoptotic process (GO:0002903), intracellular zinc ion homeostasis (GO:0006882), intracellular monoatomic cation homeostasis (GO:0030003), positive regulation of B cell proliferation (GO:0030890), positive regulation of B cell receptor signaling pathway (GO:0050861), zinc ion transmembrane transport (GO:0071577), zinc ion import across plasma membrane (GO:0071578), monoatomic ion transport (GO:0006811), zinc ion transport (GO:0006829), bicarbonate transport (GO:0015701), metal ion transport (GO:0030001), transmembrane transport (GO:0055085)

GO Molecular Function (5): zinc ion transmembrane transporter activity (GO:0005385), protein tyrosine phosphatase activator activity (GO:0008160), monoatomic cation:bicarbonate symporter activity (GO:0140410), protein binding (GO:0005515), metal ion transmembrane transporter activity (GO:0046873)

GO Cellular Component (3): plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Zinc transporters	1
Transport of small molecules	1
SLC-mediated transmembrane transport	1
Metal ion SLC transporters	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
zinc ion transmembrane transport	2
mesenchymal cell differentiation	1
B cell apoptotic process	1
regulation of B cell apoptotic process	1
negative regulation of lymphocyte apoptotic process	1
intracellular monoatomic cation homeostasis	1
inorganic ion homeostasis	1
intracellular monoatomic ion homeostasis	1
monoatomic cation homeostasis	1
regulation of B cell proliferation	1
B cell proliferation	1
positive regulation of lymphocyte proliferation	1
positive regulation of B cell activation	1
B cell receptor signaling pathway	1
regulation of B cell receptor signaling pathway	1
positive regulation of antigen receptor-mediated signaling pathway	1
zinc ion transport	1
monoatomic cation transmembrane transport	1
inorganic cation import across plasma membrane	1
transition metal ion transport	1
monoatomic cation transport	1
cellular process	1
transition metal ion transmembrane transporter activity	1
protein tyrosine phosphatase activity	1
protein phosphatase activator activity	1
bicarbonate transmembrane transporter activity	1
solute:monoatomic cation symporter activity	1
binding	1
monoatomic cation transmembrane transporter activity	1
metal ion transport	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
cellular anatomical structure	1

Protein interactions and networks

STRING

828 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC39A10	SLC39A9	Q9NUM3	808
SLC39A10	SLC30A1	Q9Y6M5	804
SLC39A10	SLC39A1	Q9NY26	794
SLC39A10	SLC39A11	Q8N1S5	766
SLC39A10	SLC30A5	Q8TAD4	753
SLC39A10	SLC30A4	O14863	747
SLC39A10	SLC30A2	Q9BRI3	733
SLC39A10	SLC30A6	Q6NXT4	733
SLC39A10	SLC30A7	Q8NEW0	731
SLC39A10	SLC30A9	Q6PML9	714
SLC39A10	SLC39A6	Q13433	684
SLC39A10	SLC30A10	Q6XR72	670
SLC39A10	SLC30A3	Q99726	640
SLC39A10	SLC39A3	Q9BRY0	621
SLC39A10	SLC39A2	Q9NP94	617

IntAct

113 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
LRRC32	SMPD2	psi-mi:“MI:0914”(association)	0.640
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
SLC39A5	TMEM223	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
GALNT6	NDUFS4	psi-mi:“MI:0914”(association)	0.530
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
LGALS1	LAMA5	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
NRN1L	SLC39A10	psi-mi:“MI:0915”(physical association)	0.400
Bmpr1a	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Cdca8	NAP1L1	psi-mi:“MI:0914”(association)	0.350
Smad3		psi-mi:“MI:0914”(association)	0.350
Cul1	GPS1	psi-mi:“MI:0914”(association)	0.350
Tnks	SDC2	psi-mi:“MI:0914”(association)	0.350
Ncaph	ATP5MF-PTCD1	psi-mi:“MI:0914”(association)	0.350
Aff1	UVRAG	psi-mi:“MI:0914”(association)	0.350
TCF20	MTA3	psi-mi:“MI:0914”(association)	0.350
KIF18A	NCOR1	psi-mi:“MI:0914”(association)	0.350
KIF7	TBC1D31	psi-mi:“MI:0914”(association)	0.350
MYC	TARS3	psi-mi:“MI:0914”(association)	0.350

BioGRID (285): SLC39A10 (Affinity Capture-MS), SLC39A10 (Affinity Capture-MS), SLC39A10 (Affinity Capture-MS), SLC39A10 (Proximity Label-MS), SLC39A10 (Proximity Label-MS), SLC39A10 (Proximity Label-MS), SLC39A10 (Affinity Capture-MS), SLC39A10 (Affinity Capture-MS), SLC39A10 (Affinity Capture-MS), SLC39A10 (Affinity Capture-MS), SLC39A10 (Affinity Capture-MS), SLC39A10 (Affinity Capture-MS), SLC39A10 (Affinity Capture-MS), SLC39A10 (Affinity Capture-MS), SLC39A10 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2KQY6, A0A6I8PMZ8, A0JPN2, A4IGY6, A5D7L5, E9PU17, E9PX95, F1QYC4, F1S5L4, O35119, O60353, O62852, O94402, O95477, P0DX17, P41233, Q08E40, Q13433, Q15043, Q3SZN3, Q3TT99, Q4V887, Q504Y0, Q5FVQ0, Q5FWH7, Q5GJ77, Q5R9M9, Q5RAB7, Q5RCN4, Q61089, Q61586, Q6L8F3, Q6P5F6, Q6PEH9, Q6R5J1, Q6W3E5, Q75N73, Q84M24, Q8C145, Q8WMU5

Diamond homologs: A0A0G2KQY6, A0A6I8PMZ8, A4IGY6, A5D7H1, A5D7L5, A8WMY3, A8X482, L5KLU7, P0DX17, Q06916, Q15043, Q1KZG0, Q29175, Q2M1K6, Q31125, Q504Y0, Q5FVQ0, Q5FWH7, Q5R6I6, Q5RAB7, Q5RFD5, Q5TJF6, Q6L8F3, Q6MGB4, Q6P5F6, Q6PEH9, Q75N73, Q78IQ7, Q8AW42, Q8BZH0, Q91W10, Q92504, Q96H72, Q9C0K1, Q9M647, Q9PUB8, Q9ULF5, Q9UT11, Q9V3A4, Q9XTQ7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 169 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Lysosphingolipid and LPA receptors	5	36.6×	1e-04
DAP12 signaling	5	17.7×	5e-04
Signaling by SCF-KIT	5	11.9×	2e-03
Class A/1 (Rhodopsin-like receptors)	10	7.1×	2e-04
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	7	5.9×	4e-03
GPCR ligand binding	9	5.5×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
G protein-coupled receptor signaling pathway	15	3.8×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2414 predictions. Top by Δscore:

Variant	Effect	Δscore
2:195681047:TGAA:T	donor_gain	1.0000
2:195681048:GAA:G	donor_gain	1.0000
2:195681048:GAAG:G	donor_gain	1.0000
2:195681049:AA:A	donor_gain	1.0000
2:195681050:AG:A	donor_loss	1.0000
2:195681051:G:GG	donor_gain	1.0000
2:195681052:TAAG:T	donor_loss	1.0000
2:195683697:A:AG	acceptor_gain	1.0000
2:195683698:G:GG	acceptor_gain	1.0000
2:195683698:GT:G	acceptor_gain	1.0000
2:195683902:ATCAG:A	donor_loss	1.0000
2:195683904:CAGGT:C	donor_loss	1.0000
2:195683905:AGGT:A	donor_loss	1.0000
2:195683906:GGT:G	donor_loss	1.0000
2:195683907:GT:G	donor_loss	1.0000
2:195683908:T:G	donor_loss	1.0000
2:195706614:A:AG	acceptor_gain	1.0000
2:195706615:G:GG	acceptor_gain	1.0000
2:195706782:CCAT:C	donor_gain	1.0000
2:195706784:ATG:A	donor_loss	1.0000
2:195706785:TGTA:T	donor_loss	1.0000
2:195706786:G:C	donor_loss	1.0000
2:195706786:G:GG	donor_gain	1.0000
2:195706787:T:A	donor_loss	1.0000
2:195708654:A:AG	acceptor_gain	1.0000
2:195708655:G:GT	acceptor_gain	1.0000
2:195708655:GTCT:G	acceptor_gain	1.0000
2:195708655:GTCTC:G	acceptor_gain	1.0000
2:195708841:AAGA:A	donor_gain	1.0000
2:195708841:AAGAG:A	donor_loss	1.0000

AlphaMissense

5619 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:195706651:A:C	S418R	1.000
2:195706653:C:A	S418R	1.000
2:195706653:C:G	S418R	1.000
2:195706669:G:C	G424R	1.000
2:195706744:G:A	G449R	1.000
2:195706744:G:C	G449R	1.000
2:195706745:G:A	G449E	1.000
2:195706753:A:C	S452R	1.000
2:195706755:T:A	S452R	1.000
2:195706755:T:G	S452R	1.000
2:195706756:G:A	G453R	1.000
2:195706756:G:C	G453R	1.000
2:195706757:G:A	G453E	1.000
2:195706759:G:C	D454H	1.000
2:195706760:A:T	D454V	1.000
2:195706769:T:C	L457P	1.000
2:195706771:C:G	H458D	1.000
2:195706775:T:A	L459Q	1.000
2:195706775:T:C	L459P	1.000
2:195716949:C:A	A670D	1.000
2:195716966:G:A	G676R	1.000
2:195716966:G:C	G676R	1.000
2:195716966:G:T	G676W	1.000
2:195716969:G:C	D677H	1.000
2:195716970:A:C	D677A	1.000
2:195716970:A:G	D677G	1.000
2:195716970:A:T	D677V	1.000
2:195716971:T:A	D677E	1.000
2:195716971:T:G	D677E	1.000
2:195716972:G:C	G678R	1.000

dbSNP variants (sampled 300 via entrez): RS1000055529 (2:195635958 A>G), RS1000056204 (2:195688254 A>C), RS1000087578 (2:195645398 T>C), RS1000143479 (2:195721701 A>C), RS1000164284 (2:195732103 T>C,G), RS1000198366 (2:195639006 A>G), RS1000270523 (2:195638742 G>A), RS1000279244 (2:195682049 C>T), RS1000324939 (2:195682065 A>T), RS1000351017 (2:195669023 C>G,T), RS1000356383 (2:195611340 A>G), RS1000383675 (2:195735219 G>C), RS1000437953 (2:195724848 G>A), RS1000463541 (2:195675538 C>G), RS1000483394 (2:195633328 G>A)

Disease associations

OMIM: gene MIM:608733 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001531_4	Temperament	6.000000e-06
GCST002790_3	Food allergy	5.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004825	temperament and character inventory
EFO:0007016	food allergy 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 — SLC39 family of metal ion transporters

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, affects expression, decreases expression	4
Cyclosporine	decreases expression	4
sodium arsenite	increases abundance, decreases expression	3
Benzo(a)pyrene	affects methylation, increases expression	3
Estradiol	affects cotreatment, increases expression, decreases expression	3
Valproic Acid	affects expression, decreases expression, decreases methylation	3
Zinc	increases transport, affects cotreatment, decreases expression, increases expression	3
bisphenol A	decreases expression	2
perfluorooctane sulfonic acid	decreases expression	2
Cadmium	decreases expression, increases response to substance, increases abundance	2
Ozone	increases abundance, affects expression, affects cotreatment, increases oxidation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Aflatoxin B1	affects expression, increases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
afuresertib	decreases expression	1
FR900359	affects phosphorylation	1
ginger extract	increases abundance, decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
ochratoxin A	affects cotreatment, decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
coumarin	increases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1

Clinical trials (associated diseases)

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