Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplie... See more...

Aliases for SLC39A12 Gene

Aliases for SLC39A12 Gene

  • Solute Carrier Family 39 Member 12 2 3 4 5
  • Solute Carrier Family 39 (Metal Ion Transporter), Member 12 2 3
  • Solute Carrier Family 39 (Zinc Transporter), Member 12 2 3
  • LIV-1 Subfamily Of ZIP Zinc Transporter 8 3 4
  • Zrt- And Irt-Like Protein 12 3 4
  • Zinc Transporter ZIP12 3 4
  • LZT-Hs8 3 4
  • ZIP-12 3 4
  • BA570F3.1 3
  • ZIP12 4

External Ids for SLC39A12 Gene

Previous GeneCards Identifiers for SLC39A12 Gene

  • GC00U912990
  • GC10P018244
  • GC10P018280
  • GC10P017906

Summaries for SLC39A12 Gene

Entrez Gene Summary for SLC39A12 Gene

  • Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]

GeneCards Summary for SLC39A12 Gene

SLC39A12 (Solute Carrier Family 39 Member 12) is a Protein Coding gene. Diseases associated with SLC39A12 include Acrodermatitis Enteropathica, Zinc-Deficiency Type. Among its related pathways are NRF2 pathway and Metal ion SLC transporters. Gene Ontology (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 SLC39A4.

UniProtKB/Swiss-Prot Summary for SLC39A12 Gene

  • Acts as a zinc-influx transporter (Potential). May be partly involved in the outbreak of schizophrenia.

Additional gene information for SLC39A12 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC39A12 Gene

Genomics for SLC39A12 Gene

GeneHancer (GH) Regulatory Elements for SLC39A12 Gene

Promoters and enhancers for SLC39A12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J017951 Promoter 0.7 EPDnew 500.7 +0.1 62 0.1 TRIM28 CTBP1 CEBPG ATF4 MEIS2 GATA1 ATF3 BCL6B E2F1 ARID1B SLC39A12 piR-33730-012 SLC39A12-AS1
GH10J017952 Enhancer 0.6 Ensembl 510.8 +0.5 462 0.6 TRIM28 CTBP1 CEBPG FEZF1 ATF4 MEIS2 ZNF350 GATA1 ATF3 BCL6B SLC39A12 SLC39A12-AS1
GH10J017953 Promoter/Enhancer 0.5 EPDnew Ensembl 510.6 +1.5 1462 0.6 SLC39A12 MRC1 SLC39A12-AS1
GH10J017950 Enhancer 0.4 FANTOM5 510.2 -1.3 -1281 0.3 ZNF316 NFATC3 MAFK EMSY SLC39A12 piR-33730-012 MRC1
GH10J017984 Enhancer 0.9 Ensembl ENCODE 11.9 +32.6 32562 1.6 JUND EP300 MEF2C BCL11A CBFB FOS CEBPG ARNT CEBPB MEF2B MRC1 SLC39A12 SLC39A12-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC39A12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC39A12

Top Transcription factor binding sites by QIAGEN in the SLC39A12 gene promoter:
  • AML1a
  • C/EBPalpha
  • CHOP-10
  • CUTL1
  • E4BP4
  • HTF
  • NF-E2 p45
  • POU3F2

Genomic Locations for SLC39A12 Gene

Genomic Locations for SLC39A12 Gene
chr10:17,951,839-18,043,292
(GRCh38/hg38)
Size:
91,454 bases
Orientation:
Plus strand
chr10:18,240,768-18,332,221
(GRCh37/hg19)
Size:
91,454 bases
Orientation:
Plus strand

Genomic View for SLC39A12 Gene

Genes around SLC39A12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC39A12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC39A12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC39A12 Gene

Proteins for SLC39A12 Gene

  • Protein details for SLC39A12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q504Y0-S39AC_HUMAN
    Recommended name:
    Zinc transporter ZIP12
    Protein Accession:
    Q504Y0
    Secondary Accessions:
    • B7Z2Y9
    • B7ZL35
    • C9JJL4
    • F5GX72
    • Q49AN8
    • Q4G0L3
    • Q5VWV8
    • Q5VWV9
    • Q6NZY5
    • Q96NN4

    Protein attributes for SLC39A12 Gene

    Size:
    691 amino acids
    Molecular mass:
    76666 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC39A12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC39A12 Gene

Post-translational modifications for SLC39A12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC39A12 Gene

No data available for DME Specific Peptides for SLC39A12 Gene

Domains & Families for SLC39A12 Gene

Gene Families for SLC39A12 Gene

Protein Domains for SLC39A12 Gene

Blocks:
  • Zinc transporter ZIP
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC39A12 Gene

GenScript: Design optimal peptide antigens:
  • Zrt- and Irt-like protein 12 (S39AC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q504Y0

UniProtKB/Swiss-Prot:

S39AC_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 SLC39A12: view

Function for SLC39A12 Gene

Molecular function for SLC39A12 Gene

UniProtKB/Swiss-Prot Function:
Acts as a zinc-influx transporter (Potential). May be partly involved in the outbreak of schizophrenia.

Phenotypes From GWAS Catalog for SLC39A12 Gene

Gene Ontology (GO) - Molecular Function for SLC39A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005385 zinc ion transmembrane transporter activity IBA 21873635
GO:0046873 metal ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC39A12: view
genes like me logo Genes that share phenotypes with SLC39A12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC39A12

CRISPR Products

miRNA for SLC39A12 Gene

miRTarBase miRNAs that target SLC39A12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC39A12

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC39A12 Gene

Localization for SLC39A12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC39A12 Gene

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 SLC39A12 gene
Compartment Confidence
plasma membrane 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC39A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC39A12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC39A12 Gene

Pathways & Interactions for SLC39A12 Gene

PathCards logo

SuperPathways for SLC39A12 Gene

SuperPathway Contained pathways
1 NRF2 pathway
2 Metal ion SLC transporters
genes like me logo Genes that share pathways with SLC39A12: view

Pathways by source for SLC39A12 Gene

2 BioSystems pathways for SLC39A12 Gene

Gene Ontology (GO) - Biological Process for SLC39A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006829 zinc ion transport IEA --
GO:0006882 cellular zinc ion homeostasis IBA 21873635
GO:0007165 signal transduction IBA 21873635
GO:0010975 regulation of neuron projection development IEA --
genes like me logo Genes that share ontologies with SLC39A12: view

No data available for SIGNOR curated interactions for SLC39A12 Gene

Drugs & Compounds for SLC39A12 Gene

No Compound Related Data Available

Transcripts for SLC39A12 Gene

mRNA/cDNA for SLC39A12 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC39A12

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC39A12 Gene

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

Relevant External Links for SLC39A12 Gene

GeneLoc Exon Structure for
SLC39A12

Expression for SLC39A12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC39A12 Gene

mRNA differential expression in normal tissues according to GTEx for SLC39A12 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.8), Brain - Frontal Cortex (BA9) (x6.5), Brain - Amygdala (x6.2), Brain - Hippocampus (x6.2), Brain - Putamen (basal ganglia) (x6.1), Brain - Cortex (x5.8), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for SLC39A12 Gene

This gene is overexpressed in Retina (41.3), Frontal cortex (20.3), and Heart (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC39A12 Gene



Protein tissue co-expression partners for SLC39A12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC39A12

SOURCE GeneReport for Unigene cluster for SLC39A12 Gene:

Hs.350895

mRNA Expression by UniProt/SwissProt for SLC39A12 Gene:

Q504Y0-S39AC_HUMAN
Tissue specificity: Expressed in brain and eye.

Evidence on tissue expression from TISSUES for SLC39A12 Gene

  • Nervous system(4.9)
  • Lung(4)
genes like me logo Genes that share expression patterns with SLC39A12: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC39A12 Gene

Orthologs for SLC39A12 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC39A12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC39A12 31 30
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC39A12 31 30
  • 87.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC39A12 31 30
  • 87 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc39a12 17 31 30
  • 81.03 (n)
rat
(Rattus norvegicus)
Mammalia Slc39a12 30
  • 80.99 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC39A12 31
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC39A12 31
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC39A12 31 30
  • 69.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC39A12 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc39a12 30
  • 60.05 (n)
Str.5321 30
zebrafish
(Danio rerio)
Actinopterygii slc39a4 31
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y55F3BL.2 31
  • 26 (a)
ManyToMany
tag-140 31
  • 18 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKE4 31
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Species where no ortholog for SLC39A12 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SLC39A12 Gene

ENSEMBL:
Gene Tree for SLC39A12 (if available)
TreeFam:
Gene Tree for SLC39A12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC39A12: view image

Paralogs for SLC39A12 Gene

Paralogs for SLC39A12 Gene

(4) SIMAP similar genes for SLC39A12 Gene using alignment to 2 proteins:

  • S39AC_HUMAN
  • F5GX72_HUMAN
genes like me logo Genes that share paralogs with SLC39A12: view

Variants for SLC39A12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC39A12 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
VAR_037520 A breast cancer sample p.Pro471Thr
rs10764176 - p.Ser36Gly
rs11011935 - p.Phe435Leu
rs2478568 - p.Val304Ile
rs7899328 - p.Thr244Met

Additional dbSNP identifiers (rs#s) for SLC39A12 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC39A12 Gene

Variant ID Type Subtype PubMed ID
esv1273302 CNV deletion 17803354
esv2733672 CNV deletion 23290073
esv2733683 CNV deletion 23290073
nsv1039655 CNV loss 25217958
nsv528116 CNV loss 19592680

Variation tolerance for SLC39A12 Gene

Residual Variation Intolerance Score: 90.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.20; 75.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC39A12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC39A12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC39A12 Gene

Disorders for SLC39A12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC39A12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acrodermatitis enteropathica, zinc-deficiency type
  • aez
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC39A12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC39A12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC39A12 Gene

Publications for SLC39A12 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 41 54
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54
  4. Examination of the zinc transporter gene, SLC39A12. (PMID: 16311021) Bly M (Schizophrenia research 2006) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for SLC39A12 Gene

Sources for SLC39A12 Gene