SLC30A7

Summary

SLC30A7 (solute carrier family 30 member 7, HGNC:19306) is a protein-coding gene on chromosome 1p21.2, encoding Zinc transporter 7 (Q8NEW0). Zinc ion transporter mediating zinc entry from the cytosol into the lumen of organelles along the secretory pathway.

Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).

Source: NCBI Gene 148867 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Joubert syndrome (Moderate, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 84 total — 1 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 17
• Druggable target: yes
• MANE Select transcript: NM_133496

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19306
Approved symbol	SLC30A7
Name	solute carrier family 30 member 7
Location	1p21.2
Locus type	gene with protein product
Status	Approved
Aliases	ZnTL2, ZNT7
Ensembl gene	ENSG00000162695
Ensembl biotype	protein_coding
OMIM	611149
Entrez	148867

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000357650, ENST00000370111, ENST00000370112, ENST00000850622, ENST00000886082

RefSeq mRNA: 2 — MANE Select: NM_133496 NM_001144884, NM_133496

CCDS: CCDS776

Canonical transcript exons

ENST00000357650 — 11 exons

Exon	Start	End
ENSE00001067775	100961828	100961918
ENSE00001067782	100965769	100965918
ENSE00001451852	100974810	100981757
ENSE00001451864	100896090	100896342
ENSE00001630927	100918077	100918127
ENSE00001659818	100921706	100921841
ENSE00001679451	100913663	100913806
ENSE00001730954	100896570	100896671
ENSE00001739725	100912112	100912238
ENSE00001771420	100911063	100911150
ENSE00001794103	100906852	100906965

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 97.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.9848 / max 282.1725, expressed in 1822 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4252	40.5351	1822
4254	2.2331	630
4256	0.7257	230
4253	0.3415	160
4255	0.1493	62

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	97.99	gold quality
pancreatic ductal cell	CL:0002079	96.42	gold quality
buccal mucosa cell	CL:0002336	94.21	gold quality
epithelial cell of pancreas	CL:0000083	93.50	gold quality
cartilage tissue	UBERON:0002418	93.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.19	gold quality
tibia	UBERON:0000979	91.95	gold quality
kidney epithelium	UBERON:0004819	91.52	gold quality
visceral pleura	UBERON:0002401	91.28	gold quality
nasal cavity epithelium	UBERON:0005384	91.22	gold quality
ileal mucosa	UBERON:0000331	91.01	gold quality
jejunal mucosa	UBERON:0000399	90.55	gold quality
thymus	UBERON:0002370	90.37	gold quality
adrenal tissue	UBERON:0018303	90.21	gold quality
pylorus	UBERON:0001166	89.49	gold quality
superficial temporal artery	UBERON:0001614	89.20	gold quality
upper leg skin	UBERON:0004262	89.20	gold quality
placenta	UBERON:0001987	89.10	gold quality
nipple	UBERON:0002030	88.98	gold quality
corpus epididymis	UBERON:0004359	88.73	gold quality
mucosa of sigmoid colon	UBERON:0004993	88.64	gold quality
skin of hip	UBERON:0001554	88.53	gold quality
parietal pleura	UBERON:0002400	88.09	gold quality
colonic mucosa	UBERON:0000317	88.07	gold quality
trabecular bone tissue	UBERON:0002483	87.89	gold quality
seminal vesicle	UBERON:0000998	87.33	gold quality
germinal epithelium of ovary	UBERON:0001304	86.97	gold quality
cauda epididymis	UBERON:0004360	86.82	gold quality
lower lobe of lung	UBERON:0008949	86.58	gold quality
pericardium	UBERON:0002407	86.23	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.73
E-MTAB-7051	no	952.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

354 targeting SLC30A7, 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-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170

Literature-anchored findings (GeneRIF, showing 10)

• hZnT-7 is up-regulated in response to cellular zinc depletion in Raji & THP-1 cells. (PMID:17971500)
• Data show that ZNT7 is extensively present in the Abeta-positive plaques in the cortex of human AD brains. (PMID:18639746)
• Intracellular transporters such as ZnT7, influence the transcellular movement of zinc across the enterocyte (PMID:21462106)
• Overexpression of ZnT7 is accompanied by activation of PI3K/Akt pathway and inhibiting HG-induced apoptosis. (PMID:23275032)
• We observed Bonferroni-corrected statistically significant interactions between albuminuria, urine cadmium levels and polymorphisms in gene SLC30A7 and RAC1. (PMID:28558300)
• ZnT7 RNAi favors Raf(GOF)scrib(-/-)-induced tumor growth and invasion in Drosophila through JNK signaling pathway. (PMID:33649534)
• MiR-200c-3p regulates pyroptosis by targeting SLC30A7 in diabetic retinopathy. (PMID:35607288)
• De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. (PMID:35751429)
• Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure. (PMID:36821639)
• Investigation of cuproptosis regulator-mediated modification patterns and SLC30A7 function in GBM. (PMID:38393693)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc30a7	ENSDARG00000019998
mus_musculus	Slc30a7	ENSMUSG00000054414
rattus_norvegicus	Slc30a7	ENSRNOG00000013912
drosophila_melanogaster	ZnT86D	FBGN0037875

Paralogs (8): SLC30A4 (ENSG00000104154), SLC30A3 (ENSG00000115194), SLC30A5 (ENSG00000145740), SLC30A6 (ENSG00000152683), SLC30A2 (ENSG00000158014), SLC30A8 (ENSG00000164756), SLC30A1 (ENSG00000170385), SLC30A10 (ENSG00000196660)

Protein

Protein identifiers

Zinc transporter 7 — Q8NEW0 (reviewed: Q8NEW0)

Alternative names: Solute carrier family 30 member 7, Znt-like transporter 2

All UniProt accessions (2): Q8NEW0, H0Y362

UniProt curated annotations — full annotation on UniProt →

Function. Zinc ion transporter mediating zinc entry from the cytosol into the lumen of organelles along the secretory pathway. By contributing to zinc ion homeostasis within the early secretory pathway, regulates the activation and folding of enzymes like alkaline phosphatases.

Subunit / interactions. Homooligomer.

Subcellular location. Golgi apparatus membrane. Cytoplasmic vesicle. Golgi apparatus. trans-Golgi network. Sarcoplasmic reticulum. Mitochondrion.

Tissue specificity. Highly expressed in megakaryocytes and other bone marrow cells and in the epithelium of the small intestine. Expressed in testis (in Leydig cells), adrenal gland (in adrenal medula, zona fasciculata and zona of reticularis), and pituitary gland (in somatotropic cells).

Disease relevance. Ziegler-Huang syndrome (ZHS) [MIM:620501] A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. ZHS is an autosomal recessive form characterized by growth retardation, testicular hypoplasia, and bone marrow failure with thrombocytopenia and macrocytic anemia appearing in childhood. The disease may be caused by variants affecting the gene represented in this entry.

Induction. Increased intracellular zinc level, resulting from extracellular zinc supplementation, do not induce any up- or down-regulation of gene expression. Up-regulated by zinc depletion.

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

RefSeq proteins (2): NP_001138356, NP_598003* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002524	Cation_efflux	Family
IPR027469	Cation_efflux_TMD_sf	Homologous_superfamily
IPR045316	Msc2-like	Family
IPR058533	Cation_efflux_TM	Domain

Pfam: PF01545

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (35 total): helix 10, topological domain 7, transmembrane region 6, strand 4, region of interest 2, sequence conflict 2, turn 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
8J7T	ELECTRON MICROSCOPY	2.2
8J80	ELECTRON MICROSCOPY	2.68
8J7V	ELECTRON MICROSCOPY	2.79
8J7W	ELECTRON MICROSCOPY	2.92
8J7U	ELECTRON MICROSCOPY	3.12
8J7X	ELECTRON MICROSCOPY	3.4
8J7Y	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NEW0-F1	76.09	0.34

Antibody-complex structures (SAbDab): 7 — 8J7T, 8J7U, 8J7V, 8J7W, 8J7X, 8J7Y, 8J80

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 266 (showing top): GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GTGCCTT_MIR506, GARY_CD5_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, RYTTCCTG_ETS2_B, GOBP_MONOATOMIC_ION_HOMEOSTASIS, MORI_PLASMA_CELL_UP, WHN_B, CTTTGTA_MIR524, NERF_Q2, WANG_RESPONSE_TO_ANDROGEN_UP, chr1p21, CETS1P54_01

GO Biological Process (8): intracellular zinc ion homeostasis (GO:0006882), zinc ion import into Golgi lumen (GO:1904257), monoatomic ion transport (GO:0006811), monoatomic cation transport (GO:0006812), zinc ion transport (GO:0006829), transmembrane transport (GO:0055085), zinc ion transmembrane transport (GO:0071577), monoatomic cation transmembrane transport (GO:0098655)

GO Molecular Function (3): zinc ion transmembrane transporter activity (GO:0005385), identical protein binding (GO:0042802), monoatomic cation transmembrane transporter activity (GO:0008324)

GO Cellular Component (11): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), mitochondrion (GO:0005739), Golgi apparatus (GO:0005794), cytoplasmic vesicle (GO:0031410), vesicle (GO:0031982), sarcoplasmic reticulum membrane (GO:0033017), perinuclear region of cytoplasm (GO:0048471), Golgi cis cisterna membrane (GO:1990674), membrane (GO:0016020), sarcoplasmic reticulum (GO:0016529)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
cellular anatomical structure	3
transport	2
monoatomic cation transmembrane transport	2
bounding membrane of organelle	2
intracellular membrane-bounded organelle	2
intracellular monoatomic cation homeostasis	1
inorganic ion homeostasis	1
zinc ion import into organelle	1
cytosol to Golgi apparatus transport	1
monoatomic ion transport	1
transition metal ion transport	1
cellular process	1
zinc ion transport	1
monoatomic cation transport	1
monoatomic ion transmembrane transport	1
transition metal ion transmembrane transporter activity	1
zinc ion transmembrane transport	1
protein binding	1
monoatomic ion transmembrane transporter activity	1
Golgi apparatus	1
intracellular anatomical structure	1
endomembrane system	1
intracellular vesicle	1
membrane-bounded organelle	1
endoplasmic reticulum membrane	1
sarcoplasmic reticulum	1
Golgi cis cisterna	1
Golgi cisterna membrane	1
endoplasmic reticulum	1
sarcoplasm	1

Protein interactions and networks

STRING

840 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC30A7	ALPL	P05186	887
SLC30A7	SLC39A7	Q92504	844
SLC30A7	SLC39A9	Q9NUM3	840
SLC30A7	SLC30A9	Q6PML9	828
SLC30A7	SLC39A11	Q8N1S5	793
SLC30A7	SLC39A1	Q9NY26	792
SLC30A7	SLC39A13	Q96H72	770
SLC30A7	SLC39A14	Q15043	754
SLC30A7	SLC39A5	Q6ZMH5	748
SLC30A7	SLC39A6	Q13433	734
SLC30A7	SLC39A10	Q9ULF5	731
SLC30A7	SLC39A8	Q9C0K1	725
SLC30A7	SLC39A12	Q504Y0	658
SLC30A7	SLC39A2	Q9NP94	572
SLC30A7	SLC39A4	Q6P5W5	543

IntAct

98 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
B3GNT3	PGRMC1	psi-mi:“MI:0914”(association)	0.670
	PMPCB	psi-mi:“MI:0914”(association)	0.640
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
SPRING1	PLSCR1	psi-mi:“MI:0914”(association)	0.530
CHRNA9	CHEK1	psi-mi:“MI:0914”(association)	0.530
TMEM63A	AP3D1	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
SLC30A7	SLC30A7	psi-mi:“MI:0915”(physical association)	0.400
KATNA1	KATNBL1	psi-mi:“MI:0914”(association)	0.350
MRPL1	MRPL43	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
	HAX1	psi-mi:“MI:0914”(association)	0.350
SLC15A3		psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350

BioGRID (436): SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Proximity Label-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS), SLC30A7 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2KQY6, A0A3Q7ZPG5, A4IFD7, A4IIC5, A5PMX1, A8WMY3, A8X482, O04089, O45923, O64738, O82643, O94639, P40544, P59889, Q12067, Q12436, Q28J44, Q2YDD4, Q3KR82, Q52KD7, Q54LY6, Q5BJM8, Q5BL29, Q5E960, Q5MNV6, Q5RE57, Q5U1X7, Q5ZIU9, Q640S1, Q6NRI1, Q6NRM1, Q6NTL1, Q6P3N9, Q6P6S2, Q6QQT1, Q8BFU1, Q8BWY7, Q8LE59, Q8N1S5, Q8NEW0

Diamond homologs: A4IFD7, A5PMX1, P20107, P30540, Q03455, Q28CE7, Q52KD7, Q54F34, Q54T06, Q5BJM8, Q5MNV6, Q5ZLF4, Q688R1, Q6DG36, Q6NRI1, Q6P3N9, Q8H329, Q8NEW0, Q8R4H9, Q8TAD4, Q9HGQ3, Q9JKN1, Q9SI03, S7V0D3, O13918, P32798, Q95QW4, Q9ZT63, P9WGF4, P9WGF5, Q08970, Q3UVU3, Q4R6K2, Q5I020, Q5XHB4, Q60738, Q62720, Q6ICY4, Q6XR72, Q9BRI3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 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
Signaling by SCF-KIT	5	15.1×	6e-04
Class A/1 (Rhodopsin-like receptors)	7	6.3×	2e-03
GPCR ligand binding	7	5.5×	3e-03
G alpha (q) signalling events	7	4.9×	5e-03
G alpha (i) signalling events	8	3.8×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of cytosolic calcium ion concentration	12	12.7×	2e-07
adenylate cyclase-activating G protein-coupled receptor signaling pathway	8	8.2×	2e-03
G protein-coupled receptor signaling pathway	18	5.9×	7e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	51
Likely benign	8
Benign	2

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
375382	NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser)	Pathogenic
1711193	NM_133496.5(SLC30A7):c.842+15T>C	Likely pathogenic
4277762	NM_133496.5(SLC30A7):c.296+1G>A	Likely pathogenic
4845920	NM_133496.5(SLC30A7):c.363_364insG (p.Ile122fs)	Likely pathogenic

SpliceAI

2707 predictions. Top by Δscore:

Variant	Effect	Δscore
1:100913802:TCATG:T	donor_gain	1.0000
1:100913803:CATGG:C	donor_loss	1.0000
1:100913805:TG:T	donor_gain	1.0000
1:100913806:GG:G	donor_gain	1.0000
1:100913807:G:GG	donor_gain	1.0000
1:100913808:T:TC	donor_loss	1.0000
1:100913809:G:GT	donor_loss	1.0000
1:100921703:TA:T	acceptor_loss	1.0000
1:100921704:A:AC	acceptor_loss	1.0000
1:100921705:GGT:G	acceptor_gain	1.0000
1:100921837:GTAAG:G	donor_gain	1.0000
1:100921839:AAGGT:A	donor_loss	1.0000
1:100921840:AGGT:A	donor_loss	1.0000
1:100921841:GGTAA:G	donor_loss	1.0000
1:100921843:T:A	donor_loss	1.0000
1:100965764:TTCA:T	acceptor_loss	1.0000
1:100965765:TCA:T	acceptor_loss	1.0000
1:100965767:A:T	acceptor_loss	1.0000
1:100974865:A:T	donor_gain	1.0000
1:100896230:G:GT	donor_gain	0.9900
1:100896230:G:T	donor_gain	0.9900
1:100896337:GTT:G	donor_gain	0.9900
1:100896338:TTT:T	donor_gain	0.9900
1:100896554:C:G	acceptor_gain	0.9900
1:100896668:ACTGG:A	donor_loss	0.9900
1:100896672:GTAAC:G	donor_loss	0.9900
1:100896673:T:C	donor_loss	0.9900
1:100907503:G:GT	donor_gain	0.9900
1:100913649:ACTTT:A	acceptor_gain	0.9900
1:100913650:C:G	acceptor_gain	0.9900

AlphaMissense

2489 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:100965841:G:T	G336W	1.000
1:100965842:G:A	G336E	1.000
1:100906870:C:A	D67E	0.999
1:100906870:C:G	D67E	0.999
1:100906964:G:T	G99W	0.999
1:100906965:G:A	G99E	0.999
1:100906965:G:T	G99V	0.999
1:100911071:G:T	R102I	0.999
1:100912183:C:A	N152K	0.999
1:100912183:C:G	N152K	0.999
1:100921730:A:C	D244A	0.999
1:100921730:A:G	D244G	0.999
1:100921731:T:A	D244E	0.999
1:100921731:T:G	D244E	0.999
1:100921741:A:C	S248R	0.999
1:100921743:T:A	S248R	0.999
1:100921743:T:G	S248R	0.999
1:100965814:T:A	W327R	0.999
1:100965814:T:C	W327R	0.999
1:100965816:G:C	W327C	0.999
1:100965816:G:T	W327C	0.999
1:100965841:G:A	G336R	0.999
1:100965841:G:C	G336R	0.999
1:100896647:T:C	L53P	0.998
1:100896655:G:C	G56R	0.998
1:100896656:G:A	G56D	0.998
1:100906868:G:C	D67H	0.998
1:100906869:A:C	D67A	0.998
1:100906869:A:G	D67G	0.998
1:100906877:C:G	H70D	0.998

dbSNP variants (sampled 300 via entrez): RS1000061912 (1:100914307 T>A), RS1000065415 (1:100896758 A>G), RS1000069602 (1:100942869 T>C), RS1000100145 (1:100943311 G>A,T), RS1000150871 (1:100920225 C>T), RS1000171075 (1:100965007 G>T), RS1000185023 (1:100968994 G>A,T), RS1000212920 (1:100920661 A>G), RS1000229486 (1:100958413 T>A,C), RS1000267954 (1:100911288 G>A), RS1000327697 (1:100916959 A>G), RS1000365731 (1:100963186 A>C), RS1000453009 (1:100927250 G>T), RS1000475540 (1:100910809 T>G), RS1000551286 (1:100922199 C>T)

Disease associations

OMIM: gene MIM:611149 | disease phenotypes: MIM:620501, MIM:213300, MIM:615486

GenCC curated gene-disease

Disease	Classification	Inheritance
Joubert syndrome	Moderate	Autosomal dominant

Mondo (5): atrophy of testis (MONDO:0001415), Ziegler-Huang syndrome (MONDO:0957595), Joubert syndrome 1 (MONDO:0008944), severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (MONDO:0014206), Joubert syndrome (MONDO:0018772)

Orphanet (1): Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (Orphanet:440427)

HPO phenotypes

17 total (17 of 17 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000135	Hypogonadism
HP:0001510	Growth delay
HP:0001511	Intrauterine growth retardation
HP:0001875	Decreased total neutrophil count
HP:0001972	Macrocytic anemia
HP:0002750	Delayed skeletal maturation
HP:0005528	Bone marrow hypocellularity
HP:0005548	Megakaryocytopenia
HP:0007099	Chiari type I malformation
HP:0008232	Elevated circulating follicle stimulating hormone level
HP:0010627	Anterior pituitary hypoplasia
HP:0011904	Persistence of hemoglobin F
HP:0030674	Antenatal onset
HP:0031688	Erythroid dysplasia

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001198_33	Multiple sclerosis	3.000000e-10
GCST009597_244	Multiple sclerosis	3.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067240 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.69	Kd	2.032	nM	CHEMBL5653589
8.69	ED50	2.032	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149416: Binding affinity to human SLC30A7 incubated for 45 mins by Kinobead based pull down assay	kd	0.0020	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	affects cotreatment, decreases expression, increases expression, increases reaction	3
Cisplatin	decreases expression, decreases response to substance, increases expression	3
Zinc	affects cotreatment, decreases expression, increases expression, increases transport	3
Cyclosporine	increases expression	3
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Arsenic	decreases methylation, increases abundance, affects cotreatment, increases expression	2
Tobacco Smoke Pollution	increases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
zinc chloride	decreases expression, increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
ochratoxin A	affects cotreatment, decreases expression, increases reaction	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	decreases expression	1
Acetaminophen	decreases expression	1
Diethylstilbestrol	increases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Colforsin	decreases expression	1
Glucose	affects reaction, increases cleavage, increases secretion	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652458	Binding	Binding affinity to human SLC30A7 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2FW	Abcam HeLa SLC30A7 KO	Cancer cell line	Female
CVCL_D4LK	HCT116-SLC30A7-KO-c4	Cancer cell line	Male
CVCL_D4LL	HCT116-SLC30A7-KO-c8	Cancer cell line	Male
CVCL_TM94	HAP1 SLC30A7 (-) 1	Cancer cell line	Male
CVCL_TM95	HAP1 SLC30A7 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00873678	Not specified	COMPLETED	Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT05097820	Not specified	RECRUITING	Prospective Observational Study on SEBBIN Silicone Gel-filled Testicular Implants
NCT05514470	Not specified	WITHDRAWN	Impact of Mutations in Aminoacyl tRNA Synthetases on Protein Translation and Cellular Stress