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Aliases for SLC39A4 Gene

Aliases for SLC39A4 Gene

  • Solute Carrier Family 39 (Zinc Transporter), Member 4 2 3
  • ZIP4 3 4 6
  • Zrt- And Irt-Like Protein 4 3 4
  • Acrodermatitis Enteropathica, Zinc-Deficiency Type 2
  • Solute Carrier Family 39 Member 4 4
  • Zinc Transporter ZIP4 3
  • AWMS2 3
  • ZIP-4 4
  • AEZ 3

External Ids for SLC39A4 Gene

Previous HGNC Symbols for SLC39A4 Gene

  • AEZ

Previous GeneCards Identifiers for SLC39A4 Gene

  • GC08M143241
  • GC08M145675
  • GC08M145239
  • GC08M145642
  • GC08M145608
  • GC08M145637
  • GC08M140751

Summaries for SLC39A4 Gene

Entrez Gene Summary for SLC39A4 Gene

  • This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

GeneCards Summary for SLC39A4 Gene

SLC39A4 (Solute Carrier Family 39 (Zinc Transporter), Member 4) is a Protein Coding gene. Diseases associated with SLC39A4 include acrodermatitis enteropathica and acrodermatitis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Mineral absorption. GO annotations related to this gene include zinc ion transmembrane transporter activity. An important paralog of this gene is SLC39A12.

UniProtKB/Swiss-Prot for SLC39A4 Gene

  • Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC39A4 Gene

Genomics for SLC39A4 Gene

Regulatory Elements for SLC39A4 Gene

Genomic Location for SLC39A4 Gene

Start:
144,409,742 bp from pter
End:
144,416,895 bp from pter
Size:
7,154 bases
Orientation:
Minus strand

Genomic View for SLC39A4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC39A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC39A4 Gene

Proteins for SLC39A4 Gene

  • Protein details for SLC39A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P5W5-S39A4_HUMAN
    Recommended name:
    Zinc transporter ZIP4
    Protein Accession:
    Q6P5W5
    Secondary Accessions:
    • Q7L5S5
    • Q9H6T8
    • Q9NXC4

    Protein attributes for SLC39A4 Gene

    Size:
    647 amino acids
    Molecular mass:
    68392 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91091.1; Type=Frameshift; Positions=573, 598, 618; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC39A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC39A4 Gene

Proteomics data for SLC39A4 Gene at MOPED

Post-translational modifications for SLC39A4 Gene

  • Glycosylation at Asn261
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC39A4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC39A4 Gene

Domains for SLC39A4 Gene

Gene Families for SLC39A4 Gene

Protein Domains for SLC39A4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC39A4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P5W5

UniProtKB/Swiss-Prot:

S39A4_HUMAN :
  • Q6P5W5
Family:
  • Belongs to the ZIP transporter (TC 2.A.5) family.
genes like me logo Genes that share domains with SLC39A4: view

Function for SLC39A4 Gene

Molecular function for SLC39A4 Gene

UniProtKB/Swiss-Prot Function: Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity).

Gene Ontology (GO) - Molecular Function for SLC39A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005385 zinc ion transmembrane transporter activity IDA 22242765
GO:0046873 metal ion transmembrane transporter activity --
genes like me logo Genes that share ontologies with SLC39A4: view
genes like me logo Genes that share phenotypes with SLC39A4: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC39A4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC39A4 Gene

Localization for SLC39A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC39A4 Gene

Cell membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Note=Colocalized with TFRC in the recycling endosomes. Cycles between endosomal compartments and the plasma membrane in response to zinc availability.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC39A4 Gene COMPARTMENTS Subcellular localization image for SLC39A4 gene
Compartment Confidence
endosome 5
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC39A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0016023 cytoplasmic membrane-bounded vesicle IDA 14612438
genes like me logo Genes that share ontologies with SLC39A4: view

Pathways for SLC39A4 Gene

genes like me logo Genes that share pathways with SLC39A4: view

Interacting Proteins for SLC39A4 Gene

Gene Ontology (GO) - Biological Process for SLC39A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006829 zinc II ion transport --
GO:0006882 cellular zinc ion homeostasis IEA --
GO:0030001 metal ion transport --
GO:0034224 cellular response to zinc ion starvation IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC39A4: view

Compounds for SLC39A4 Gene

(1) Novoseek inferred chemical compound relationships for SLC39A4 Gene

Compound -log(P) Hits PubMed IDs
zinc 69.2 36
genes like me logo Genes that share compounds with SLC39A4: view

Transcripts for SLC39A4 Gene

Unigene Clusters for SLC39A4 Gene

Solute carrier family 39 (zinc transporter), member 4:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC39A4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SLC39A4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC39A4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13
SP1: - -
SP2: -
SP3: -
SP4: -
SP5: - -
SP6:
SP7: -
SP8:

Relevant External Links for SLC39A4 Gene

GeneLoc Exon Structure for
SLC39A4
ECgene alternative splicing isoforms for
SLC39A4

Expression for SLC39A4 Gene

mRNA expression in normal human tissues for SLC39A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC39A4 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (10.7), Colon - Transverse (9.2), and Kidney - Cortex (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC39A4 Gene

SOURCE GeneReport for Unigene cluster for SLC39A4 Gene Hs.521934

mRNA Expression by UniProt/SwissProt for SLC39A4 Gene

Q6P5W5-S39A4_HUMAN
Tissue specificity: Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum.
genes like me logo Genes that share expressions with SLC39A4: view

In Situ Assay Products

Orthologs for SLC39A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC39A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC39A4 35
  • 99.04 (n)
  • 98.56 (a)
SLC39A4 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC39A4 35
  • 81.26 (n)
  • 74.84 (a)
SLC39A4 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC39A4 35
  • 81.46 (n)
  • 77.65 (a)
SLC39A4 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc39a4 35
  • 76.48 (n)
  • 74.11 (a)
Slc39a4 16
Slc39a4 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 56 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC39A4 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc39a4 35
  • 77.29 (n)
  • 73.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10006 36
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tag-141 36
  • 26 (a)
OneToOne
Species with no ortholog for SLC39A4:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SLC39A4 Gene

ENSEMBL:
Gene Tree for SLC39A4 (if available)
TreeFam:
Gene Tree for SLC39A4 (if available)

Paralogs for SLC39A4 Gene

Selected SIMAP similar genes for SLC39A4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC39A4: view

Variants for SLC39A4 Gene

Sequence variations from dbSNP and Humsavar for SLC39A4 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs736676 -- 144,413,936(+) GCCGG(C/G)TACCT upstream-variant-2KB, intron-variant
rs744677 -- 144,414,723(-) GAGAG(G/T)GAGTG upstream-variant-2KB, splice-donor-variant
rs1048974 -- 144,412,541(-) ACCTT(A/C/T)TGATA missense, reference, synonymous-codon
rs1871533 - 144,415,811(-) CAAGA(C/T)GGTGA missense, reference
rs1871534 - 144,414,297(-) GTGCA(C/G)TCACT upstream-variant-2KB, missense, reference

Structural Variations from Database of Genomic Variants (DGV) for SLC39A4 Gene

Variant ID Type Subtype PubMed ID
nsv470249 CNV Loss 18288195
nsv515809 CNV Gain+Loss 19592680
nsv891807 CNV Loss 21882294
nsv428208 CNV Gain 18775914
nsv891817 CNV Loss 21882294
dgv7959n71 CNV Loss 21882294
nsv891841 CNV Loss 21882294
nsv891844 CNV Loss 21882294
nsv891845 CNV Gain 21882294
nsv891846 CNV Loss 21882294
dgv2264e1 CNV Complex 17122850
nsv831489 CNV Loss 17160897
dgv7963n71 CNV Loss 21882294
dgv7966n71 CNV Loss 21882294
dgv7967n71 CNV Loss 21882294
dgv7968n71 CNV Loss 21882294
dgv7969n71 CNV Loss 21882294
nsv891870 CNV Loss 21882294
nsv824805 CNV Gain 20364138
dgv7970n71 CNV Loss 21882294
nsv891873 CNV Loss 21882294
dgv7971n71 CNV Loss 21882294
dgv7972n71 CNV Loss 21882294
esv2738065 CNV Deletion 23290073
dgv7973n71 CNV Loss 21882294
dgv907n27 CNV Loss 19166990

Relevant External Links for SLC39A4 Gene

HapMap Linkage Disequilibrium report
SLC39A4
Human Gene Mutation Database (HGMD)
SLC39A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC39A4 Gene

Disorders for SLC39A4 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for SLC39A4 Gene including...

Search for SLC39A4 Gene in MalaCards »

(1) OMIM Diseases for SLC39A4 Gene (607059)

UniProtKB/Swiss-Prot

S39A4_HUMAN
  • Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]: A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. {ECO:0000269 PubMed:12032886, ECO:0000269 PubMed:12068297, ECO:0000269 PubMed:12787121, ECO:0000269 PubMed:14702039}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SLC39A4 Gene

(3) Novoseek inferred disease relationships for SLC39A4 Gene

Disease -log(P) Hits PubMed IDs
acrodermatitis enteropathica 97.9 19
zinc deficiency 85.3 6
genetic disorder 61.2 4

Relevant External Links for SLC39A4

Genetic Association Database (GAD)
SLC39A4
Human Genome Epidemiology (HuGE) Navigator
SLC39A4
genes like me logo Genes that share disorders with SLC39A4: view

Publications for SLC39A4 Gene

  1. Novel SLC39A4 mutations in acrodermatitis enteropathica. (PMID: 12787121) Nakano A. … Hanada K. (J. Invest. Dermatol. 2003) 3 4 23
  2. The acrodermatitis enteropathica gene ZIP4 encodes a tissue-specific, zinc-regulated zinc transporter in mice. (PMID: 12801924) Dufner-Beattie J. … Andrews G.K. (J. Biol. Chem. 2003) 2 3 23
  3. Zn2+-stimulated endocytosis of the mZIP4 zinc transporter regulates its location at the plasma membrane. (PMID: 14612438) Kim B.-E. … Petris M.J. (J. Biol. Chem. 2004) 3 4 23
  4. Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter. (PMID: 14709598) Wang F. … Eide D.J. (Hum. Mol. Genet. 2004) 2 3 23
  5. A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. (PMID: 16889938) Meftah S.P. … Prasad A.S. (Nutrition 2006) 3 23

Products for SLC39A4 Gene

  • antibodies-online peptides for SLC39A4
  • antibodies-online antibodies for SLC39A4
  • antibodies-online kits for SLC39A4

Sources for SLC39A4 Gene

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