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Aliases for SLC39A4 Gene

Aliases for SLC39A4 Gene

  • Solute Carrier Family 39 Member 4 2 3 4
  • Solute Carrier Family 39 (Zinc Transporter), Member 4 2 3 5
  • Zrt- And Irt-Like Protein 4 3 4
  • ZIP4 3 4
  • Acrodermatitis Enteropathica, Zinc-Deficiency Type 2
  • 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 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 metal ion transmembrane transporter activity and 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

Enhancers for SLC39A4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC39A4 on UCSC Golden Path with GeneCards custom track

Promoters for SLC39A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC39A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC39A4 Gene

Chromosome:
8
Start:
144,409,742 bp from pter
End:
144,418,034 bp from pter
Size:
8,293 bases
Orientation:
Minus strand

Genomic View for SLC39A4 Gene

Genes around SLC39A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC39A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 261
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC39A4 Gene

No data available for DME Specific Peptides for SLC39A4 Gene

Domains & Families 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 :
  • Belongs to the ZIP transporter (TC 2.A.5) family.
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).
genes like me logo Genes that share phenotypes with SLC39A4: view

Human Phenotype Ontology for SLC39A4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC39A4 Gene

MGI Knock Outs for SLC39A4:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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
extracellular 5
plasma membrane 5
endosome 3
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 IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC39A4: view

Pathways & Interactions 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:0034224 cellular response to zinc ion starvation IEA --
GO:0055085 transmembrane transport IEA --
GO:0071577 zinc II ion transmembrane transport IDA --
genes like me logo Genes that share ontologies with SLC39A4: view

No data available for SIGNOR curated interactions for SLC39A4 Gene

Drugs & Compounds for SLC39A4 Gene

(1) Drugs for SLC39A4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

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 (x10.7), Colon - Transverse (x9.2), and Kidney - Cortex (x5.4).

Protein differential expression in normal tissues from HIPED for SLC39A4 Gene

This gene is overexpressed in Fetal gut (52.4) and CD8 Tcells (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SLC39A4: view

Protein tissue co-expression partners for SLC39A4 Gene

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia SLC39A4 35
  • 99.04 (n)
  • 98.56 (a)
SLC39A4 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc39a4 35
  • 77.29 (n)
  • 73.95 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 56 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC39A4 36
  • 55 (a)
OneToOne
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

(3) 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
rs2280838 - 144,416,618(-) ACTGC(A/G)CCAAC upstream-variant-2KB, reference, missense
VAR_023628 -
VAR_023629 Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
VAR_023630 Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
rs17855765 - 144,415,944(+) CCGAG(C/T)GTCCT intron-variant, reference, missense

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

Variation tolerance for SLC39A4 Gene

Residual Variation Intolerance Score: 95.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.51; 98.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC39A4 Gene

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

(5) MalaCards diseases for SLC39A4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acrodermatitis enteropathica
  • acrodermatitis enteropathica zinc deficiency type
acrodermatitis
enteropathica
autosomal recessive disease
metal metabolism disorder
  • inborn metal metabolism disorder
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC39A4

Genetic Association Database (GAD)
SLC39A4
Human Genome Epidemiology (HuGE) Navigator
SLC39A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC39A4
genes like me logo Genes that share disorders with SLC39A4: view

No data available for Genatlas for SLC39A4 Gene

Publications for SLC39A4 Gene

  1. 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 67
  2. 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
  3. One novel homozygous mutation of SLC39A4 gene in a Chinese patient with acrodermatitis enteropathica. (PMID: 20300938) Li C.R. … Cao Y.H. (Arch. Dermatol. Res. 2010) 3 23
  4. An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. (PMID: 19370757) Schmitt S. … BAczieau S. (Hum. Mutat. 2009) 3 23
  5. Novel and recurrent nonsense mutation of the SLC39A4 gene in Japanese patients with acrodermatitis enteropathica. (PMID: 19416256) Nakano H. … Sawamura D. (Br. J. Dermatol. 2009) 3 23

Products for SLC39A4 Gene

Sources for SLC39A4 Gene

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