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

    Gene ID: 148867, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See SLC30A7 in Genome Data Viewer
    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_000001.11Genomic 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 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. Investigation of cuproptosis regulator-mediated modification patterns and SLC30A7 function in GBM. Yu W, et al. Aging (Albany NY), 2024 Feb 22. PMID 38393693, Free PMC Article
    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. Huang L, et al. Hum Mol Genet, 2023 Jun 5. PMID 36821639
    3. 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
    4. 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
    5. 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

    See all (65) 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: 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

    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 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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    NEW Try the new Transcript table

    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_2024_08

    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
      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

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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