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] See more...

Aliases for SLC30A7 Gene

Aliases for SLC30A7 Gene

  • Solute Carrier Family 30 Member 7 2 3 4 5
  • ZNT7 2 3 4
  • Solute Carrier Family 30 (Zinc Transporter), Member 7 2 3
  • Znt-Like Transporter 2 3 4
  • Zinc Transporter 7 3 4
  • ZnT-7 3 4
  • ZnTL2 2 3
  • Zinc Transporter Like 2 3
  • Zinc Transporter ZnT-7 3
  • SLC30A7 5
  • ZNTL2 4

External Ids for SLC30A7 Gene

Previous GeneCards Identifiers for SLC30A7 Gene

  • GC01P100542
  • GC01P100652
  • GC01P100824
  • GC01P101073
  • GC01P101134
  • GC01P101361
  • GC01P099486

Summaries for SLC30A7 Gene

Entrez Gene Summary for SLC30A7 Gene

  • 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]

GeneCards Summary for SLC30A7 Gene

SLC30A7 (Solute Carrier Family 30 Member 7) is a Protein Coding gene. Diseases associated with SLC30A7 include Joubert Syndrome 1 and Acrodermatitis Enteropathica, Zinc-Deficiency Type. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metal ion SLC transporters. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SLC30A5.

UniProtKB/Swiss-Prot Summary for SLC30A7 Gene

  • Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity).

Gene Wiki entry for SLC30A7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC30A7 Gene

Genomics for SLC30A7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC30A7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC30A7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC30A7

Top Transcription factor binding sites by QIAGEN in the SLC30A7 gene promoter:
  • c-Ets-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • RFX1
  • STAT5A

Genomic Locations for SLC30A7 Gene

Latest Assembly
chr1:100,896,076-100,996,913
(GRCh38/hg38)
Size:
100,838 bases
Orientation:
Plus strand

Previous Assembly
chr1:101,361,646-101,447,313
(GRCh37/hg19 by Entrez Gene)
Size:
85,668 bases
Orientation:
Plus strand

chr1:101,361,632-101,447,309
(GRCh37/hg19 by Ensembl)
Size:
85,678 bases
Orientation:
Plus strand

Genomic View for SLC30A7 Gene

Genes around SLC30A7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC30A7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC30A7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC30A7 Gene

Proteins for SLC30A7 Gene

  • Protein details for SLC30A7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEW0-ZNT7_HUMAN
    Recommended name:
    Zinc transporter 7
    Protein Accession:
    Q8NEW0
    Secondary Accessions:
    • B2R949
    • D3DT61
    • Q8TCH2

    Protein attributes for SLC30A7 Gene

    Size:
    376 amino acids
    Molecular mass:
    41626 Da
    Quaternary structure:
    • Homooligomer.

neXtProt entry for SLC30A7 Gene

Post-translational modifications for SLC30A7 Gene

  • Ubiquitination at Lys15
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC30A7 Gene

No data available for DME Specific Peptides for SLC30A7 Gene

Domains & Families for SLC30A7 Gene

Gene Families for SLC30A7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC30A7 Gene

InterPro:
Blocks:
  • Cation efflux protein

Suggested Antigen Peptide Sequences for SLC30A7 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 30 (Zinc transporter), member 7 (B1AW85_HUMAN)
  • Znt-like transporter 2 (ZNT7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NEW0

UniProtKB/Swiss-Prot:

ZNT7_HUMAN :
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
Family:
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
genes like me logo Genes that share domains with SLC30A7: view

Function for SLC30A7 Gene

Molecular function for SLC30A7 Gene

UniProtKB/Swiss-Prot Function:
Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity).
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SLC30A7 Gene

Gene Ontology (GO) - Molecular Function for SLC30A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008324 cation transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC30A7: view
genes like me logo Genes that share phenotypes with SLC30A7: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC30A7

miRNA for SLC30A7 Gene

miRTarBase miRNAs that target SLC30A7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC30A7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC30A7 Gene

Localization for SLC30A7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC30A7 Gene

Golgi apparatus, trans-Golgi network membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC30A7 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC30A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 17349999
GO:0005794 Golgi apparatus IBA,IDA 17349999
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with SLC30A7: view

Pathways & Interactions for SLC30A7 Gene

genes like me logo Genes that share pathways with SLC30A7: view

Pathways by source for SLC30A7 Gene

Gene Ontology (GO) - Biological Process for SLC30A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006829 zinc ion transport IEA --
GO:0032119 sequestering of zinc ion IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC30A7: view

No data available for SIGNOR curated interactions for SLC30A7 Gene

Drugs & Compounds for SLC30A7 Gene

(2) Drugs for SLC30A7 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc chloride Approved, Investigational Pharma Transporter, substrate 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Transporter, substrate 0
genes like me logo Genes that share compounds with SLC30A7: view

Transcripts for SLC30A7 Gene

mRNA/cDNA for SLC30A7 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC30A7

Alternative Splicing Database (ASD) splice patterns (SP) for SLC30A7 Gene

No ASD Table

Relevant External Links for SLC30A7 Gene

GeneLoc Exon Structure for
SLC30A7

Expression for SLC30A7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC30A7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC30A7 Gene

This gene is overexpressed in Nasal epithelium (23.8), Breast (14.1), and Serum (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC30A7 Gene



Protein tissue co-expression partners for SLC30A7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC30A7

SOURCE GeneReport for Unigene cluster for SLC30A7 Gene:

Hs.533903

Evidence on tissue expression from TISSUES for SLC30A7 Gene

  • Nervous system(4.4)
  • Liver(2.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with SLC30A7: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC30A7 Gene

Orthologs for SLC30A7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC30A7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC30A7 29 30
  • 99.38 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC30A7 29 30
  • 94.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC30A7 29 30
  • 94.06 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc30a7 29 16 30
  • 89.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc30a7 29
  • 89.89 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC30A7 30
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC30A7 30
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC30A7 29 30
  • 77.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC30A7 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc30a7 29
  • 72 (n)
MGC76189 29
Zebrafish
(Danio rerio)
Actinopterygii slc30a7 29 30
  • 69.06 (n)
OneToOne
wufi11a08 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG6672 29 30
  • 59.81 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004461 29
  • 55.28 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSC2 30
  • 14 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3181 29
Species where no ortholog for SLC30A7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SLC30A7 Gene

ENSEMBL:
Gene Tree for SLC30A7 (if available)
TreeFam:
Gene Tree for SLC30A7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC30A7: view image
Alliance of Genome Resources:
Additional Orthologs for SLC30A7

Paralogs for SLC30A7 Gene

(1) SIMAP similar genes for SLC30A7 Gene using alignment to 2 proteins:

  • ZNT7_HUMAN
  • H0Y362_HUMAN
genes like me logo Genes that share paralogs with SLC30A7: view

Variants for SLC30A7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC30A7 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1057519442 Pathogenic: Joubert syndrome 1 100,912,217(+) CA/AG
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC30A7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC30A7 Gene

Variant ID Type Subtype PubMed ID
esv1088978 CNV insertion 17803354
esv2666592 CNV deletion 23128226
esv2715407 CNV deletion 23290073
esv3566537 CNV deletion 23714750
esv3578026 CNV loss 25503493
esv5152 CNV loss 18987735
nsv1149468 CNV insertion 26484159
nsv1152359 CNV deletion 26484159
nsv522064 CNV gain 19592680
nsv946098 CNV duplication 23825009

Variation tolerance for SLC30A7 Gene

Residual Variation Intolerance Score: 35.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC30A7 Gene

Human Gene Mutation Database (HGMD)
SLC30A7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC30A7
Leiden Open Variation Database (LOVD)
SLC30A7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC30A7 Gene

Disorders for SLC30A7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC30A7 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC30A7

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC30A7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC30A7 Gene

Publications for SLC30A7 Gene

  1. ZnT7, a novel mammalian zinc transporter, accumulates zinc in the Golgi apparatus. (PMID: 12446736) Kirschke CP … Huang L (The Journal of biological chemistry 2003) 2 3 4
  2. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PMID: 21833088) International Multiple Sclerosis Genetics Consortium … Compston A (Nature 2011) 3 40
  3. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 40
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Differential regulation of zinc efflux transporters ZnT-1, ZnT-5 and ZnT-7 gene expression by zinc levels: a real-time RT-PCR study. (PMID: 15276077) Devergnas S … Seve M (Biochemical pharmacology 2004) 3 4

Products for SLC30A7 Gene

Sources for SLC30A7 Gene