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Aliases for SLC30A4 Gene

Aliases for SLC30A4 Gene

  • Solute Carrier Family 30 Member 4 2 3 4 5
  • Solute Carrier Family 30 (Zinc Transporter), Member 4 2 3
  • ZnT-4 3 4
  • ZNT4 3 4
  • Zinc Transporter 4 3

External Ids for SLC30A4 Gene

Previous HGNC Symbols for SLC30A4 Gene

  • ZNT4

Previous GeneCards Identifiers for SLC30A4 Gene

  • GC15M041333
  • GC15M038822
  • GC15M043356
  • GC15M043493
  • GC15M043486
  • GC15M043564
  • GC15M045771
  • GC15M022597

Summaries for SLC30A4 Gene

Entrez Gene Summary for SLC30A4 Gene

  • 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]

GeneCards Summary for SLC30A4 Gene

SLC30A4 (Solute Carrier Family 30 Member 4) is a Protein Coding gene. Diseases associated with SLC30A4 include Acrodermatitis Enteropathica, Zinc-Deficiency Type and Enteropathica. Among its related pathways are Metal ion SLC transporters. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity and zinc ion transmembrane transporter activity. An important paralog of this gene is SLC30A2.

UniProtKB/Swiss-Prot for SLC30A4 Gene

  • Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular compartment.

Gene Wiki entry for SLC30A4 Gene

Additional gene information for SLC30A4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC30A4 Gene

Genomics for SLC30A4 Gene

GeneHancer (GH) Regulatory Elements for SLC30A4 Gene

Promoters and enhancers for SLC30A4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I045521 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +1.2 1181 2.4 FOXA2 SIN3A ZNF48 YY1 ZNF143 REST ZNF592 NFIL3 HMBOX1 HNF4A SLC30A4 EIF3J-AS1 BLOC1S6 HMGN2P46
GH15I045585 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.5 -64.1 -64106 4.3 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ENSG00000275709 ENSG00000260170 BLOC1S6 SQOR SPG11 SLC30A4 ENSG00000259539 GC15P045592 HMGN2P46
GH15I045454 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +66.8 66837 5.1 ARNT SIN3A FEZF1 IRF4 ZNF143 ZNF207 FOS SP3 JUNB ZHX2 C15orf48 LOC100533853 SPATA5L1 MIR147B SLC30A4 SQOR BLOC1S6 GC15P045452 ENSG00000259354 LOC105376714
GH15I045447 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.8 +74.0 73991 3.6 ZNF687 SMARCC1 NFIA ZNF189 CEBPB EBF1 MNT CEBPG DPF2 ZIC2 ENSG00000259354 LOC105376714 SPATA5L1 SLC30A4 ENSG00000259539 LOC101928414 LOC100533853 SORD2P GC15P045452 C15orf48
GH15I045549 Enhancer 0.8 ENCODE 13.2 -26.1 -26065 1.4 ATF1 NFRKB DMAP1 ZBTB40 CHAMP1 POLR2B FOS CREM SMAD5 ZBTB11 SLC30A4 ENSG00000259539 C15orf48 ENSG00000259681 SNORA41B HMGN2P46
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC30A4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC30A4 gene promoter:

Genomic Locations for SLC30A4 Gene

Genomic Locations for SLC30A4 Gene
chr15:45,479,611-45,523,669
(GRCh38/hg38)
Size:
44,059 bases
Orientation:
Minus strand
chr15:45,771,809-45,815,005
(GRCh37/hg19)

Genomic View for SLC30A4 Gene

Genes around SLC30A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC30A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC30A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC30A4 Gene

Proteins for SLC30A4 Gene

  • Protein details for SLC30A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14863-ZNT4_HUMAN
    Recommended name:
    Zinc transporter 4
    Protein Accession:
    O14863
    Secondary Accessions:
    • Q8TC39

    Protein attributes for SLC30A4 Gene

    Size:
    429 amino acids
    Molecular mass:
    47483 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC30A4 Gene

Post-translational modifications for SLC30A4 Gene

No Post-translational modifications

Other Protein References for SLC30A4 Gene

No data available for DME Specific Peptides for SLC30A4 Gene

Domains & Families for SLC30A4 Gene

Gene Families for SLC30A4 Gene

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

Protein Domains for SLC30A4 Gene

Suggested Antigen Peptide Sequences for SLC30A4 Gene

Graphical View of Domain Structure for InterPro Entry

O14863

UniProtKB/Swiss-Prot:

ZNT4_HUMAN :
  • Contains a histidine-rich region which is a ligand for zinc and an aspartate-rich region which is a potential ligand for zinc.
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
Domain:
  • Contains a histidine-rich region which is a ligand for zinc and an aspartate-rich region which is a potential ligand for zinc.
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 SLC30A4: view

Function for SLC30A4 Gene

Molecular function for SLC30A4 Gene

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

Phenotypes From GWAS Catalog for SLC30A4 Gene

Gene Ontology (GO) - Molecular Function for SLC30A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005385 zinc ion transmembrane transporter activity TAS 9354792
GO:0005515 protein binding IPI 25657003
GO:0008324 cation transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC30A4: view
genes like me logo Genes that share phenotypes with SLC30A4: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC30A4 Gene

Localization for SLC30A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC30A4 Gene

Endosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Lysosome 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 SLC30A4 gene
Compartment Confidence
endosome 5
plasma membrane 4
lysosome 4
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC30A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 17349999
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005770 late endosome IDA 17349999
genes like me logo Genes that share ontologies with SLC30A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC30A4 Gene

Pathways & Interactions for SLC30A4 Gene

SuperPathways for SLC30A4 Gene

SuperPathway Contained pathways
1 Metal ion SLC transporters
genes like me logo Genes that share pathways with SLC30A4: view

Pathways by source for SLC30A4 Gene

1 BioSystems pathway for SLC30A4 Gene

Gene Ontology (GO) - Biological Process for SLC30A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006829 zinc II ion transport IEA --
GO:0009636 response to toxic substance IDA 17575980
genes like me logo Genes that share ontologies with SLC30A4: view

No data available for SIGNOR curated interactions for SLC30A4 Gene

Drugs & Compounds for SLC30A4 Gene

(1) Drugs for SLC30A4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SLC30A4: view

Transcripts for SLC30A4 Gene

Unigene Clusters for SLC30A4 Gene

Solute carrier family 30 (zinc transporter), member 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC30A4 Gene

No ASD Table

Relevant External Links for SLC30A4 Gene

GeneLoc Exon Structure for
SLC30A4
ECgene alternative splicing isoforms for
SLC30A4

Expression for SLC30A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC30A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC30A4 Gene

This gene is overexpressed in Prostate (x4.2).

Protein differential expression in normal tissues from HIPED for SLC30A4 Gene

This gene is overexpressed in Testis (33.5), Placenta (21.0), and Bone (14.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC30A4 Gene



Protein tissue co-expression partners for SLC30A4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC30A4 Gene:

SLC30A4

SOURCE GeneReport for Unigene cluster for SLC30A4 Gene:

Hs.162989

Evidence on tissue expression from TISSUES for SLC30A4 Gene

  • Kidney(4.4)
  • Nervous system(4.4)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with SLC30A4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC30A4 Gene

Orthologs for SLC30A4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC30A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC30A4 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia SLC30A4 33 34
  • 94.24 (n)
cow
(Bos Taurus)
Mammalia SLC30A4 33 34
  • 93.07 (n)
mouse
(Mus musculus)
Mammalia Slc30a4 33 16 34
  • 88.76 (n)
rat
(Rattus norvegicus)
Mammalia Slc30a4 33
  • 86.89 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC30A4 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC30A4 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC30A4 33 34
  • 73.59 (n)
lizard
(Anolis carolinensis)
Reptilia SLC30A4 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc30a4 33
  • 68.48 (n)
zebrafish
(Danio rerio)
Actinopterygii slc30a4 33 34
  • 57.21 (n)
zgc64215 33
fruit fly
(Drosophila melanogaster)
Insecta CG11163 34
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y39E4A.2a 35
  • 40 (a)
Y39E4A.2b 35
  • 40 (a)
T18D3.3 35
  • 39 (a)
ttm-1 34
  • 32 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COT1 34
  • 20 (a)
ManyToMany
ZRC1 34
  • 19 (a)
ManyToMany
MMT1 36
thale cress
(Arabidopsis thaliana)
eudicotyledons MTPB1 33
  • 46.79 (n)
Species where no ortholog for SLC30A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC30A4 Gene

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

Paralogs for SLC30A4 Gene

Paralogs for SLC30A4 Gene

(4) SIMAP similar genes for SLC30A4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC30A4: view

Variants for SLC30A4 Gene

Sequence variations from dbSNP and Humsavar for SLC30A4 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000055578 -- 45,509,698(-) G/A intron_variant
rs1000206051 -- 45,493,475(-) C/G genic_downstream_transcript_variant, intron_variant
rs1000678962 -- 45,522,488(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000900266 -- 45,502,478(-) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000905015 -- 45,481,947(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC30A4 Gene

Variant ID Type Subtype PubMed ID
nsv519435 CNV loss 19592680
nsv469721 CNV gain 16826518
nsv1523 CNV deletion 18451855
nsv1160292 CNV duplication 26073780
nsv1045556 CNV gain 25217958
esv3892684 CNV gain 25118596
esv3569553 CNV gain 25503493

Variation tolerance for SLC30A4 Gene

Residual Variation Intolerance Score: 23.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC30A4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC30A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC30A4 Gene

Disorders for SLC30A4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC30A4 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC30A4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC30A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC30A4 Gene

Publications for SLC30A4 Gene

  1. Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes. (PMID: 17349999) Falcón-Pérez JM … Dell'Angelica EC (Experimental cell research 2007) 3 4 22 58
  2. Alterations of zinc transporter proteins ZnT-1, ZnT-4 and ZnT-6 in preclinical Alzheimer's disease brain. (PMID: 19371353) Lyubartseva G … Lovell MA (Brain pathology (Zurich, Switzerland) 2010) 3 22 58
  3. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 44 58
  4. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M … van Ree JM (Biological psychiatry 2009) 3 44 58
  5. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PMID: 19625176) Hosgood HD … Lan Q (Respiratory medicine 2009) 3 44 58

Products for SLC30A4 Gene

Sources for SLC30A4 Gene

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