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Aliases for SLC39A4 Gene

Aliases for SLC39A4 Gene

  • Solute Carrier Family 39 Member 4 2 3 4 5
  • Solute Carrier Family 39 (Zinc Transporter), Member 4 2 3
  • Zrt- And Irt-Like Protein 4 3 4
  • ZIP4 3 4
  • Acrodermatitis Enteropathica, Zinc-Deficiency Type 2
  • 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 Member 4) is a Protein Coding gene. Diseases associated with SLC39A4 include Acrodermatitis Enteropathica and Acrodermatitis. Among its related pathways are Metal ion SLC transporters and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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).

Additional gene information for SLC39A4 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H144425 1.7 FANTOM5 ENCODE dbSUPER 17.8 -10.9 -10905 6 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 VPS28 ZNF517 SLC39A4 CPSF1 ZNF7 TONSL MAF1 ZNF623 ZNF250 ZNF251
GH08H144412 1.3 ENCODE dbSUPER 17.1 +1.8 1803 7 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 GLIS2 VPS28 SLC39A4 CPSF1 TONSL C8orf82 LOC105375803 HGH1 ZNF252P ENSG00000272115
GH08H143914 2.2 FANTOM5 Ensembl ENCODE dbSUPER 4.9 +480.9 480904 45 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 MEF2D ZNF610 GLIS1 RCOR2 PLEC ZNF251 ZNF517 ZNF250 ZNF7 LOC105375803 EEF1D ZNF623 CPSF1 VPS28
GH08H145051 1.1 ENCODE 6.8 -634.4 -634422 2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207 MAF1 C8orf33 ZNF252P SLC39A4 RPL8 PIR53567 GC08P145056
GH08H143607 1.1 ENCODE 6.4 +808.4 808413 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 NAPRT CPSF1 ENSG00000255050 ZNF707 VPS28 ZNF623 LOC105375798 ADCK5 SLC52A2 PARP10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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:
    68408 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

Post-translational modifications for SLC39A4 Gene

  • Glycosylation at Asn261
  • 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

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).

Phenotypes From GWAS Catalog for SLC39A4 Gene

Gene Ontology (GO) - Molecular Function for SLC39A4 Gene

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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC39A4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
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 SLC39A4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 3
peroxisome 1
endoplasmic reticulum 1
cytosol 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 TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC39A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC39A4 Gene

Pathways & Interactions for SLC39A4 Gene

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

Gene Ontology (GO) - Biological Process for SLC39A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006829 zinc II ion transport IEA --
GO:0006882 cellular zinc ion homeostasis IBA,IEA --
GO:0007165 signal transduction IBA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC39A4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SLC39A4 Gene



Protein tissue co-expression partners for SLC39A4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC39A4 Gene:

SLC39A4

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.

Evidence on tissue expression from TISSUES for SLC39A4 Gene

  • Lung(4.1)
  • Intestine(2.6)
  • Kidney(2.3)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC39A4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • pituitary gland
  • scalp
  • tongue
Thorax:
  • breast
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with SLC39A4: view

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
chimpanzee
(Pan troglodytes)
Mammalia SLC39A4 33 34
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia SLC39A4 33 34
  • 81.46 (n)
cow
(Bos Taurus)
Mammalia SLC39A4 33 34
  • 81.26 (n)
rat
(Rattus norvegicus)
Mammalia Slc39a4 33
  • 77.29 (n)
mouse
(Mus musculus)
Mammalia Slc39a4 33 16 34
  • 76.48 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 56 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC39A4 34
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10006 34
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tag-141 34
  • 26 (a)
OneToOne
Species where no ortholog for SLC39A4 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)
  • 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
rs117535951 Likely benign, Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] 144,416,033(+) GGCCC(A/G)GGGGC reference, missense
rs121434287 Pathogenic, Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] 144,415,295(-) CTTGC(C/T)GAGCC upstream-variant-2KB, reference, missense
rs121434288 Pathogenic, Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] 144,413,288(-) AGACC(A/G)GGCTG intron-variant, reference, missense
rs121434289 Pathogenic, Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] 144,414,291(-) TCACT(A/G)GGGAC upstream-variant-2KB, reference, missense
rs121434290 Pathogenic, Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100] 144,415,966(-) AGCAA(A/C)CCCGA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv12434n54 CNV loss 21841781
dgv12437n54 CNV loss 21841781
dgv907n27 CNV loss 19166990
esv2738065 CNV deletion 23290073
esv2759652 CNV gain+loss 17122850
nsv428208 CNV gain 18775914
nsv470249 CNV loss 18288195
nsv515809 CNV gain+loss 19592680
nsv612935 CNV loss 21841781
nsv612936 CNV loss 21841781
nsv824805 CNV gain 20364138
nsv831489 CNV loss 17160897

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC39A4

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

Disorders for SLC39A4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC39A4 Gene - From: HGMD, 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
alopecia
- 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. Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter. (PMID: 14709598) Wang F … Eide DJ (Human molecular genetics 2004) 2 3 22 60
  2. Zn2+-stimulated endocytosis of the mZIP4 zinc transporter regulates its location at the plasma membrane. (PMID: 14612438) Kim BE … Petris MJ (The Journal of biological chemistry 2004) 3 4 22 60
  3. The acrodermatitis enteropathica gene ZIP4 encodes a tissue-specific, zinc-regulated zinc transporter in mice. (PMID: 12801924) Dufner-Beattie J … Andrews GK (The Journal of biological chemistry 2003) 2 3 22 60
  4. Novel SLC39A4 mutations in acrodermatitis enteropathica. (PMID: 12787121) Nakano A … Hanada K (The Journal of investigative dermatology 2003) 3 4 22 60
  5. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E … Dorak MT (Molecular human reproduction 2010) 3 45 60

Products for SLC39A4 Gene

Sources for SLC39A4 Gene

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