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Aliases for SLC39A5 Gene

Aliases for SLC39A5 Gene

  • Solute Carrier Family 39 Member 5 2 3 4
  • Solute Carrier Family 39 (Zinc Transporter), Member 5 2 3 5
  • Solute Carrier Family 39 (Metal Ion Transporter), Member 5 2 3
  • Zrt- And Irt-Like Protein 5 3 4
  • ZIP5 3 4
  • LZT-Hs7 3
  • MYP24 3
  • ZIP-5 4

External Ids for SLC39A5 Gene

Previous GeneCards Identifiers for SLC39A5 Gene

  • GC00U913331
  • GC12P054910
  • GC12P056626
  • GC12P053663

Summaries for SLC39A5 Gene

Entrez Gene Summary for SLC39A5 Gene

  • The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

GeneCards Summary for SLC39A5 Gene

SLC39A5 (Solute Carrier Family 39 Member 5) is a Protein Coding gene. Diseases associated with SLC39A5 include Myopia 24, Autosomal Dominant and Myopia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metal ion SLC transporters. GO annotations related to this gene include metal ion transmembrane transporter activity. An important paralog of this gene is SLC39A12.

UniProtKB/Swiss-Prot for SLC39A5 Gene

  • May play a role in polarized cells by carrying out serosal-to-mucosal zinc transport. Plays a role in eye development. Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera (PubMed:24891338). Seems to play a central role in controlling organismal zinc status (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC39A5 Gene

Genomics for SLC39A5 Gene

Regulatory Elements for SLC39A5 Gene

Enhancers for SLC39A5 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 SLC39A5 on UCSC Golden Path with GeneCards custom track

Promoters for SLC39A5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC39A5 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SLC39A5 gene promoter:

Genomic Location for SLC39A5 Gene

Chromosome:
12
Start:
56,230,036 bp from pter
End:
56,237,846 bp from pter
Size:
7,811 bases
Orientation:
Plus strand

Genomic View for SLC39A5 Gene

Genes around SLC39A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC39A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC39A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC39A5 Gene

Proteins for SLC39A5 Gene

  • Protein details for SLC39A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMH5-S39A5_HUMAN
    Recommended name:
    Zinc transporter ZIP5
    Protein Accession:
    Q6ZMH5
    Secondary Accessions:
    • B2R808
    • Q8N6Y3

    Protein attributes for SLC39A5 Gene

    Size:
    540 amino acids
    Molecular mass:
    56461 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH27884.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG36005.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SLC39A5 Gene

Proteomics data for SLC39A5 Gene at MOPED

Post-translational modifications for SLC39A5 Gene

Other Protein References for SLC39A5 Gene

Antibody Products

No data available for DME Specific Peptides for SLC39A5 Gene

Domains & Families for SLC39A5 Gene

Gene Families for SLC39A5 Gene

Protein Domains for SLC39A5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC39A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZMH5

UniProtKB/Swiss-Prot:

S39A5_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 SLC39A5: view

Function for SLC39A5 Gene

Molecular function for SLC39A5 Gene

UniProtKB/Swiss-Prot Function:
May play a role in polarized cells by carrying out serosal-to-mucosal zinc transport. Plays a role in eye development. Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera (PubMed:24891338). Seems to play a central role in controlling organismal zinc status (By similarity).
genes like me logo Genes that share phenotypes with SLC39A5: view

Human Phenotype Ontology for SLC39A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC39A5 Gene

MGI Knock Outs for SLC39A5:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC39A5

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for SLC39A5 Gene

Localization for SLC39A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC39A5 Gene

Basolateral cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC39A5 Gene COMPARTMENTS Subcellular localization image for SLC39A5 gene
Compartment Confidence
extracellular 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC39A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC39A5: view

Pathways & Interactions for SLC39A5 Gene

genes like me logo Genes that share pathways with SLC39A5: view

Interacting Proteins for SLC39A5 Gene

Gene Ontology (GO) - Biological Process for SLC39A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006829 zinc II ion transport IEA --
GO:0030509 BMP signaling pathway IMP 24891338
GO:0034224 cellular response to zinc ion starvation IEA --
GO:0055085 transmembrane transport IEA --
GO:0061351 neural precursor cell proliferation ISS --
genes like me logo Genes that share ontologies with SLC39A5: view

No data available for SIGNOR curated interactions for SLC39A5 Gene

Drugs & Compounds for SLC39A5 Gene

No Compound Related Data Available

Transcripts for SLC39A5 Gene

Unigene Clusters for SLC39A5 Gene

Solute carrier family 39 (metal ion transporter), member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC39A5 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2: - - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - - - -
SP7: - - -
SP8: - - - -
SP9:

Relevant External Links for SLC39A5 Gene

GeneLoc Exon Structure for
SLC39A5
ECgene alternative splicing isoforms for
SLC39A5

Expression for SLC39A5 Gene

mRNA expression in normal human tissues for SLC39A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC39A5 Gene

This gene is overexpressed in Pancreas (x24.1), Liver (x9.5), Colon - Transverse (x7.3), Small Intestine - Terminal Ileum (x5.7), and Kidney - Cortex (x5.3).

Protein differential expression in normal tissues from HIPED for SLC39A5 Gene

This gene is overexpressed in Fetal gut (48.1) and Fetal Liver (20.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC39A5 Gene



SOURCE GeneReport for Unigene cluster for SLC39A5 Gene Hs.591018

mRNA Expression by UniProt/SwissProt for SLC39A5 Gene

Q6ZMH5-S39A5_HUMAN
Tissue specificity: Expressed in liver, kidney, pancreas, small intestine, colon, spleen, fetal liver and fetal kidney.
genes like me logo Genes that share expression patterns with SLC39A5: view

Protein tissue co-expression partners for SLC39A5 Gene

- Elite partner

Primer Products

Orthologs for SLC39A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC39A5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC39A5 35
  • 87.4 (n)
  • 84.76 (a)
SLC39A5 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC39A5 35
  • 87.07 (n)
  • 86.7 (a)
SLC39A5 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc39a5 35
  • 84.92 (n)
  • 83.74 (a)
Slc39a5 16
Slc39a5 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC39A5 35
  • 99.57 (n)
  • 99.44 (a)
SLC39A5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc39a5 35
  • 84.3 (n)
  • 83.3 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SLC39A5 36
  • 30 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16344 35
zebrafish
(Danio rerio)
Actinopterygii slc39a5 36
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta foi 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for SLC39A5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for SLC39A5 Gene

ENSEMBL:
Gene Tree for SLC39A5 (if available)
TreeFam:
Gene Tree for SLC39A5 (if available)

Paralogs for SLC39A5 Gene

genes like me logo Genes that share paralogs with SLC39A5: view

Variants for SLC39A5 Gene

Sequence variations from dbSNP and Humsavar for SLC39A5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_071911 Myopia 24, autosomal dominant (MYP24)
VAR_074009 -
rs17118403 -- 56,236,283(+) AACAT(C/T)CCAGG intron-variant
rs17118409 -- 56,236,980(+) TTAGC(A/G)GTCTT nc-transcript-variant, reference, synonymous-codon
rs34611281 -- 56,232,162(+) TTTTC(C/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC39A5 Gene

Variant ID Type Subtype PubMed ID
nsv482992 CNV Complex 15286789

Variation tolerance for SLC39A5 Gene

Residual Variation Intolerance Score: 84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.59; 56.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC39A5 Gene

Human Gene Mutation Database (HGMD)
SLC39A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC39A5 Gene

Disorders for SLC39A5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC39A5 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopia 24, autosomal dominant
  • myp24
myopia
  • near vision
refractive error
  • refractive errors
acrodermatitis enteropathica
  • acrodermatitis enteropathica zinc deficiency type
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S39A5_HUMAN
  • Myopia 24, autosomal dominant (MYP24) [MIM:615946]: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269 PubMed:24891338, ECO:0000269 PubMed:25525168}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC39A5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC39A5
genes like me logo Genes that share disorders with SLC39A5: view

No data available for Genatlas for SLC39A5 Gene

Publications for SLC39A5 Gene

  1. The mammalian Zip5 protein is a zinc transporter that localizes to the basolateral surface of polarized cells. (PMID: 15322118) Wang F. … Eide D.J. (J. Biol. Chem. 2004) 3 4 23 67
  2. Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. (PMID: 25525168) Jiang D. … Zhang Q. (Invest. Ophthalmol. Vis. Sci. 2015) 3
  3. SLC39A5 mutations interfering with the BMP/TGF-beta pathway in non- syndromic high myopia. (PMID: 24891338) Guo H. … Xia K. (J. Med. Genet. 2014) 3
  4. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PMID: 19056867) Gonzales P.A. … Knepper M.A. (J. Am. Soc. Nephrol. 2009) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for SLC39A5 Gene

Sources for SLC39A5 Gene

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