SLC30A7 solute carrier family 30 member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC30A7provided by HGNC
Official Full Name: solute carrier family 30 member 7provided by HGNC
Primary source: HGNC:HGNC:19306
See related: Ensembl:ENSG00000162695 MIM:611149; AllianceGenome:HGNC:19306
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZHS; ZNT7; ZnT-7; ZnTL2
Summary: 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]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in appendix (RPKM 3.9), thyroid (RPKM 3.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p21.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (100896090..100996078)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (100744936..100844787)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (101361646..101447313)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigation of cuproptosis regulator-mediated modification patterns and SLC30A7 function in GBM.
Title: Investigation of cuproptosis regulator-mediated modification patterns and SLC30A7 function in GBM.
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.
Title: Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Title: De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
MiR-200c-3p regulates pyroptosis by targeting SLC30A7 in diabetic retinopathy.
Title: MiR-200c-3p regulates pyroptosis by targeting SLC30A7 in diabetic retinopathy.
ZnT7 RNAi favors Raf(GOF)scrib(-/-)-induced tumor growth and invasion in Drosophila through JNK signaling pathway.
Title: ZnT7 RNAi favors Raf(GOF)scrib(-/-)-induced tumor growth and invasion in Drosophila through JNK signaling pathway.
We observed Bonferroni-corrected statistically significant interactions between albuminuria, urine cadmium levels and polymorphisms in gene SLC30A7 and RAC1.
Title: Urine cadmium levels and albuminuria in a general population from Spain: A gene-environment interaction analysis.
Overexpression of ZnT7 is accompanied by activation of PI3K/Akt pathway and inhibiting HG-induced apoptosis.
Title: Zinc transporter 5 and zinc transporter 7 induced by high glucose protects peritoneal mesothelial cells from undergoing apoptosis.
Intracellular transporters such as ZnT7, influence the transcellular movement of zinc across the enterocyte
Title: Gastrointestinal factors influencing zinc absorption and homeostasis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms in mitochondrial genes and prostate cancer risk.
Data show that ZNT7 is extensively present in the Abeta-positive plaques in the cortex of human AD brains.
Title: Abundant expression of zinc transporters in the amyloid plaques of Alzheimer's disease brain.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ziegler-Huang syndrome MedGen: C5882688 OMIM: 620501 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
integrase	gag-pol	HIV-1 IN is identified to have a physical interaction with solute carrier family 30 (zinc transporter), member 7 (SLC30A7; ZNT7) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Slc30a7 (e-PCR), detects polymorphism
- UniSTS:547079

RH64505 (e-PCR)
- UniSTS:1292

RH70028 (e-PCR)
- UniSTS:8468

SHGC-75235 (e-PCR)
- UniSTS:27424

D1S1154 (e-PCR)
- UniSTS:149042

SHGC-75215 (e-PCR)
- UniSTS:41794

SHGC-75236 (e-PCR)
- UniSTS:23629

STS-M78355 (e-PCR)
- UniSTS:43602

SHGC-75231 (e-PCR)
- UniSTS:62865

D1S299E (e-PCR)
- UniSTS:63943

WI-17896 (e-PCR)
- UniSTS:79587

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular zinc ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in zinc ion import into Golgi lumen	IBA Inferred from Biological aspect of Ancestor more info
involved_in zinc ion import into Golgi lumen	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi cis cisterna membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc transporter 7

Names: solute carrier family 30 (zinc transporter), member 7; zinc transporter ZnT-7; zinc transporter like 2; znt-like transporter 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001144884.2 → NP_001138356.1 zinc transporter 7

See identical proteins and their annotated locations for NP_001138356.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks a segment in the 3' UTR, as compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL732465, BX537375, BX648884

Consensus CDS

CCDS776.1

UniProtKB/Swiss-Prot

B2R949, D3DT61, Q8NEW0, Q8TCH2

Related

ENSP00000359130.4, ENST00000370112.8

Conserved Domains (2) summary

COG1230
Location:31 → 374

CzcD; Co/Zn/Cd efflux system component [Inorganic ion transport and metabolism]

pfam01545
Location:48 → 294

Cation_efflux; Cation efflux family
NM_133496.5 → NP_598003.2 zinc transporter 7

See identical proteins and their annotated locations for NP_598003.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longer transcript.

Source sequence(s)

AL732465, BC064692, BX648884, DA997188

Consensus CDS

CCDS776.1

UniProtKB/Swiss-Prot

B2R949, D3DT61, Q8NEW0, Q8TCH2

Related

ENSP00000350278.4, ENST00000357650.9

Conserved Domains (2) summary

COG1230
Location:31 → 374

CzcD; Co/Zn/Cd efflux system component [Inorganic ion transport and metabolism]

pfam01545
Location:48 → 294

Cation_efflux; Cation efflux family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

100896090..100996078

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017000400.3 → XP_016855889.1 zinc transporter 7 isoform X1

UniProtKB/Swiss-Prot

B2R949, D3DT61, Q8NEW0, Q8TCH2

Related

ENSP00000520907.1, ENST00000850622.1

Conserved Domains (2) summary

COG1230
Location:31 → 374

CzcD; Co/Zn/Cd efflux system component [Inorganic ion transport and metabolism]

pfam01545
Location:48 → 294

Cation_efflux; Cation efflux family
XM_017000401.3 → XP_016855890.1 zinc transporter 7 isoform X2