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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC30A4 Gene

protein-coding   GIFtS: 51
GCID: GC15M045771

solute carrier family 30 (zinc transporter), member 4


(Previous symbol: ZNT4)
 Explore 13 diseases affiliated with
SLC30A4 via our new
 Human Malady Compendium 
Biological research products
for SLC30A4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 30 (Zinc Transporter), Member 41 2
ZNT41 2 3 5
Solute Carrier Family 30 Member 42 3
Zinc Transporter 42
ZnT-43
ZnT-43

External Ids:    HGNC: 110151   Entrez Gene: 77822   Ensembl: ENSG000001041547   OMIM: 6020955   UniProtKB: O148633   

Export aliases for SLC30A4 gene to outside databases

Previous GC identifers: GC15M041333 GC15M038822 GC15M043356 GC15M043493 GC15M043486 GC15M043564 GC15M022597


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC30A4:
Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural
role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as
pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and
superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are
involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains
and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 (PubMed 9354792)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: ZNT4_HUMAN, O14863
Function: Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular
compartment

Gene Wiki entry for SLC30A4


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC30A4 gene promoter:
         Pax-5   AML1a   Pax-2   Pax-2a   STAT5A   N-Myc   FOXO4   STAT3   c-Myb   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC30A4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC30A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC30A4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21.1|15q21.1   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q21.1

SLC30A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC30A4 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M045771:  view genomic region     (about GC identifiers)

Start:
45,771,809 bp from pter      End:
45,815,005 bp from pter
Size:
43,197 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ZNT4_HUMAN, O14863 (See protein sequence)
Recommended Name: Zinc transporter 4  
Size: 429 amino acids; 47483 Da
Subcellular location: Endosome membrane; Multi-pass membrane protein (Probable)
Secondary accessions: Q8TC39

Explore the universe of human proteins at neXtProt for SLC30A4: NX_O14863

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14863

  • SLC30A4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_037441.2  
    ENSEMBL proteins: 
     ENSP00000261867  

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    Uscn Proteins for SLC30A4

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA17349999
    GO:0005770late endosome IDA17349999
    GO:0010008endosome membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0016023cytoplasmic membrane-bounded vesicle ----


    SLC30A4 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SLC30A4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002524 Cation_efflux

    Graphical View of Domain Structure for InterPro Entry O14863

    ProtoNet protein and cluster: O14863

    1 Blocks protein family: IPB002524 Cation efflux protein

    UniProtKB/Swiss-Prot: ZNT4_HUMAN, O14863
    Domain: Contains a histidine-rich region which is a ligand for zinc and an aspartate-rich region which is a potential
    ligand for zinc (By similarity)
    Similarity: Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ZNT4_HUMAN, O14863
    Function: Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular
    compartment

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005385zinc ion transmembrane transporter activity TAS9354792


    SLC30A4 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC30A4:
     Upregulation of Wnt/beta-caten 

    Animal Models:
         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc30a4):
     behavior/neurological  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     immune system  integument  mortality/aging  other  pigmentation 
     vision/eye 

    SLC30A4 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC30A4

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006829zinc ion transport ----
    GO:0007595lactation ----
    GO:0009636response to toxin IDA17575980
    GO:0010043response to zinc ion ----
    GO:0033189response to vitamin A ----


    SLC30A4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC30A4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC30A4
    1 Novoseek chemical compound relationship for SLC30A4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 61.8 19 19371353 (2), 11686514 (2), 18850219 (1), 12743795 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about SLC30A4 / ZNT4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC30A4 gene: 
    NM_013309.4  

    Unigene Cluster for SLC30A4:

    Solute carrier family 30 (zinc transporter), member 4
    Hs.162989  [show with all ESTs]
    Unigene Representative Sequence: NM_013309
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261867(uc001zvj.3) ENST00000559667

    miRNA
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    hsa-miR-579 hsa-miR-3607-3p hsa-miR-15a hsa-miR-218-1* hsa-miR-134 hsa-miR-219-5p hsa-miR-30d hsa-miR-371-5p
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    Additional cDNA sequence: 

    AF025409.1 AK290874.1 AY029482.1 BC026089.2 

    8 DOTS entries:

    DT.97835720  DT.95136564  DT.443823  DT.100748106  DT.100748107  DT.95333002  DT.97825667  DT.97835719 

    24/29 AceView cDNA sequences (see all 29):

    BM129148 AW968543 NM_013309 BX101424 AA489711 AW297173 BC026089 AA485220 
    BX100461 BM789500 BF196341 BI460231 AA484943 BE835291 AF025409 BG724286 
    BG720955 AY029482 BM128883 BQ372441 AI125381 CF140206 CF142277 BE004188 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC30A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGGGATTCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SLC30A4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC30A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC30A4

    SOURCE GeneReport for Unigene cluster: Hs.162989
        SABiosciences Expression via Pathway-Focused PCR Array including SLC30A4: 
              Polycomb & Trithorax Target Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC30A4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for SLC30A4 gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC30A41 solute carrier family 30 (zinc transporter), member more 74.78(n)
    78.28(a)
      415444  XM_003641851.1  XP_003641899.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC30A46
    --
    78(a)
    1 ↔ 1
    GL343506.1(1588-7895)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc642152 hypothetical protein MGC64215 69.87(n)   393616  BC057442.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG111636
    --
    23(a)
    1 ↔ 1
    2R(1662279-1670360)
    worm
    (Caenorhabditis elegans)
    Secernentea Y39E4A.2a3   -- 40(a)
    (best of 3)
      III(13024489-13038276)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MTPB11 metal tolerance protein B 47.45(n)
    34.71(a)
      817490  NM_128495.3  NP_180502.2 
    rice
    (Oryza sativa)
    Liliopsida --
    cation efflux family protein, putative, expressed
    26(a)
    1 → many
    5(1675472-1679040)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria zitB6
    zinc efflux system
    30(a)
    1 → many
    Chromosome(783105-784046)


    ENSEMBL Gene Tree for SLC30A4 (if available)
    TreeFam Gene Tree for SLC30A4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC30A4 gene
    SLC30A32  SLC30A22  SLC30A82  SLC30A102  SLC30A12  
    4 SIMAP similar genes for SLC30A4 using alignment to 1 protein entry:     ZNT4_HUMAN:
    ZNT4    SLC30A2    SLC30A3    SLC30A8

    SLC30A4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/599 NCBI SNPs in SLC30A4 are shown (see all 599    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs711143471,2
    C--45774256(-) AAATCT/-TTTTT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1891596621,2
    --45774430(+) GGGCAA/CCATGG 1 -- ds50010--------
    rs1815545011,2
    --45774760(+) AGATAG/TAAAAA 1 -- ut310--------
    rs1860425281,2
    --45774838(+) TCCAGA/TTGTCC 1 -- ut310--------
    rs1904536381,2
    --45774909(+) ATAGTC/TTATAT 1 -- ut310--------
    rs11369681,2
    C,F,H--45775125(+) gatacT/Cacagg 1 -- ut313Minor allele frequency- C:0.02NS NA 286
    rs1813965561,2
    --45775261(+) ACAGGC/TATGAG 1 -- ut310--------
    rs1486717731,2
    --45775341(+) CATCAA/GTCCTT 1 -- ut310--------
    rs1864120131,2
    --45775371(+) CCAACA/GATCTT 1 -- ut310--------
    rs1422061991,2
    --45775425(+) AGGTAC/TTTGGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC30A4 (45771809 - 45815005 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC30A4: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SLC30A4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SLC30A4 for disorders           About GeneDecksing

    OMIM gene information: 602095    OMIM disorders: --

    13 diseases for SLC30A4:    About MalaCards
    acrodermatitis enteropathica    enteropathica    acrodermatitis    autism spectrum disorder
    pancreatitis    pulmonary disease    cholera    alzheimer's disease
    schizophrenia    prostate disease    prostatitis    prostate cancer
    malaria

    1 disease from the University of Copenhagen DISEASES database for SLC30A4:
    Acrodermatitis enteropathica

    1 Novoseek disease relationship for SLC30A4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acrodermatitis enteropathica 94.2 3 11935329 (1), 12699353 (1), 11686514 (1)

    Human Genome Epidemiology (HuGE) Navigator: SLC30A4 (4 documents)

    Export disorders for SLC30A4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC30A4 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with SLC30A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene involved in zinc transport is deficient in the lethal milk mouse. (PubMed id 9354792)1, 2 Huang L. and Gitschier J. (1997)
    2. Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica. (PubMed id 11686514)1, 9 Bleck O....McGrath J.A. (2001)
    3. Alterations of zinc transporter proteins ZnT-1, ZnT-4 and ZnT-6 in preclinical Alzheimer's disease brain. (PubMed id 19371353)1, 9 Lyubartseva G....Lovell M.A. (2010)
    4. Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk. (PubMed id 12743795)1, 9 Michalczyk A....Ackland M.L. (2003)
    5. Altered expression of zinc transporters-4 and -6 in mild cognitive impairment, early and late Alzheimer's disease brain. (PubMed id 16580781)1, 9 Smith J.L.... Lovell M.A. (2006)
    6. Constitutive expression of hZnT4 zinc transporter in human breast epithelial cells. (PubMed id 11988082)1, 9 Michalczyk A.A....Ackland M.L. (2002)
    7. ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families. (PubMed id 11935329)1, 9 Nakano A....Uitto J. (2002)
    8. Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes. (PubMed id 17349999)1, 9 Falcon-Perez J.M. and Dell'Angelica E.C. (2007)
    9. The global gene-expression profiles of U-937 human mac rophages treated with Tat peptide and Tat-FITC conjugate. (PubMed id 22632162)1 Lin C.W....Jan M.S. (2012)
    10. Apical localization of zinc transporter ZnT4 in human airway epithelial cells and its loss in a murine model of allergic airway inflam mation. (PubMed id 22254085)1 Murgia C....Zalewski P. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7782 HGNC: 11015 AceView: SLC30A4 Ensembl:ENSG00000104154 euGenes: HUgn7782
    ECgene: SLC30A4 H-InvDB: SLC30A4

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for SLC30A4 Pharmacogenomics, SNPs, Pathways

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