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Aliases for SLC39A5 Gene

Aliases for SLC39A5 Gene

  • Solute Carrier Family 39 Member 5 2 3 4 5
  • Solute Carrier Family 39 (Metal Ion Transporter), Member 5 2 3
  • Solute Carrier Family 39 (Zinc Transporter), Member 5 2 3
  • Zrt- And Irt-Like Protein 5 3 4
  • ZIP5 3 4
  • Zinc Transporter ZIP5 3
  • 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 SLC39A10.

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 CIViC summary , 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 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
GH12G056358 1.5 FANTOM5 ENCODE 10.1 +129.8 129849 3.3 CREB3L1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC TBX21 ZNF610 STAT2 ENSG00000257303 IL23A ZC3H10 NEMP1 BAZ2A ENSG00000258317 PHC1P1 NAB2 RN7SL809P
GH12G056298 1.4 ENCODE dbSUPER 10.6 +70.8 70775 4.6 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZNF610 NEMP1 BAZ2A ZC3H10 CDK2 RN7SL809P ENSG00000257303 TMEM198B RPL41 RNU6-343P RBMS2
GH12G056293 0.9 ENCODE 15.9 +64.0 63976 0.2 AGO1 SIN3A ZNF335 ZNF121 GLIS2 SCRT2 ZNF207 PRPF4 SMAD5 ZBTB11 BAZ2A SLC39A5 NEMP1 COQ10A ANKRD52 ZC3H10 RNF41 NABP2 PRIM1 PAN2
GH12G056196 1.1 Ensembl ENCODE 11.7 -33.0 -32987 1.6 HDGF PKNOX1 TBL1XR1 INSM2 KLF17 FEZF1 ZNF2 RAD21 ZEB1 GATA2 RNF41 NABP2 SLC39A5 ANKRD52 COQ10A PA2G4 MYL6B RPS26 GC12P056196
GH12G056192 1.1 Ensembl ENCODE 11.4 -36.9 -36896 1.1 HDGF TBP NFRKB ZNF133 ARID4B ZNF2 RAD21 YY1 ZNF766 SCRT2 ENSG00000258199 NABP2 MYL6B ENSG00000257740 RNF41 SLC39A5 SMARCC2 MYL6 GC12P056195 TRS-CGA4-1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

Post-translational modifications for SLC39A5 Gene

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).

Gene Ontology (GO) - Molecular Function for SLC39A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005385 zinc ion transmembrane transporter activity IBA --
GO:0046873 metal ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC39A5: view
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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
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 SLC39A5 gene
Compartment Confidence
plasma membrane 5
extracellular 5

Gene Ontology (GO) - Cellular Components for SLC39A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma 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:0001654 eye development IMP 24891338
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006829 zinc II ion transport IEA --
GO:0006882 cellular zinc ion homeostasis IBA --
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SLC39A5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC39A5 Gene:

SLC39A5

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.

Evidence on tissue expression from TISSUES for SLC39A5 Gene

  • Intestine(4.6)
  • Kidney(4.5)
  • Pancreas(4.4)
  • Liver(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC39A5 Gene

Germ Layers:
  • mesoderm
Systems:
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SLC39A5: view

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
chimpanzee
(Pan troglodytes)
Mammalia SLC39A5 34 35
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia SLC39A5 34 35
  • 87.4 (n)
dog
(Canis familiaris)
Mammalia SLC39A5 34 35
  • 87.07 (n)
mouse
(Mus musculus)
Mammalia Slc39a5 34 16 35
  • 84.92 (n)
rat
(Rattus norvegicus)
Mammalia Slc39a5 34
  • 84.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 72 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SLC39A5 35
  • 30 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16344 34
zebrafish
(Danio rerio)
Actinopterygii slc39a5 35
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta foi 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToMany
Species where no ortholog for SLC39A5 was found in the sources mined by GeneCards:
  • 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
rs587777625 Pathogenic, Myopia 24, autosomal dominant (MYP24) [MIM:615946] 56,235,666(+) GAACA(C/T)GCTGG nc-transcript-variant, reference, missense
VAR_074009 Myopia 24, autosomal dominant (MYP24) [MIM:615946]
rs199624584 Pathogenic 56,231,415(+) CTGTA(A/C/G/T)GGCGA nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs1001080674 -- 56,234,617(+) GCTCA(C/T)CCCCA intron-variant
rs1001142101 -- 56,236,200(+) GGCCA(A/G)ATGGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1051961 CNV gain 25217958
nsv482992 CNV gain+loss 15286789
nsv952186 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC39A5

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

Disorders for SLC39A5 Gene

MalaCards: The human disease database

(5) 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
acrodermatitis enteropathica
  • acrodermatitis enteropathica, zinc-deficiency type
enteropathica
refractive error
  • refractive errors
- 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 22 64
  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 4 64
  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 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SLC39A5 Gene

Sources for SLC39A5 Gene

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