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

Gene ID: 148867, updated on 10-Mar-2024

Summary

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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
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Genomic context

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Location:
1p21.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100896090..100996078)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (100744936..100844787)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (101361646..101447313)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1386 Neighboring gene vascular cell adhesion molecule 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:101301135-101302334 Neighboring gene Sharpr-MPRA regulatory region 5467 Neighboring gene MPRA-validated peak338 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:101359730-101360453 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:101360454-101361176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1389 Neighboring gene exostosin like glycosyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1390 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 68 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:101490870-101492069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1122 Neighboring gene diphthamide biosynthesis 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:101519189-101519689 Neighboring gene DPH5 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1123 Neighboring gene Sharpr-MPRA regulatory region 5182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1393 Neighboring gene small Cajal body-specific RNA 16

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure. Huang L, et al. Hum Mol Genet, 2023 Jun 5. PMID 36821639
  2. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Penon-Portmann M, et al. Am J Med Genet A, 2022 Aug. PMID 35751429, Free PMC Article
  3. MiR-200c-3p regulates pyroptosis by targeting SLC30A7 in diabetic retinopathy. Li W, et al. Hum Exp Toxicol, 2022 Jan-Dec. PMID 35607288
  4. Urine cadmium levels and albuminuria in a general population from Spain: A gene-environment interaction analysis. Grau-Perez M, et al. Environ Int, 2017 Sep. PMID 28558300
  5. Zinc transporter 5 and zinc transporter 7 induced by high glucose protects peritoneal mesothelial cells from undergoing apoptosis. Zhang X, et al. Cell Signal, 2013 Apr. PMID 23275032

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. MiR-200c-3p regulates pyroptosis by targeting SLC30A7 in diabetic retinopathy.
    Title: MiR-200c-3p regulates pyroptosis by targeting SLC30A7 in diabetic retinopathy.
  5. 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.
  6. 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.
  7. 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.
  8. Intracellular transporters such as ZnT7, influence the transcellular movement of zinc across the enterocyte
    Title: Gastrointestinal factors influencing zinc absorption and homeostasis.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms in mitochondrial genes and prostate cancer risk.
  10. 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: CN372739 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686M0368

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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)

  1. 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

  2. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    100896090..100996078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    B2R949, D3DT61, Q8NEW0, Q8TCH2
    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

  2. XM_017000401.3 → XP_016855890.1  zinc transporter 7 isoform X2

RNA

  1. XR_246237.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    100744936..100844787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334606.1 → XP_054190581.1  zinc transporter 7 isoform X1

    UniProtKB/Swiss-Prot
    B2R949, D3DT61, Q8NEW0, Q8TCH2

  2. XM_054334607.1 → XP_054190582.1  zinc transporter 7 isoform X2

RNA

  1. XR_008485933.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NEW0.1 GenPept UniProtKB/Swiss-Prot:Q8NEW0

Gene LinkOut

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