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Aliases for SLC30A2 Gene

Aliases for SLC30A2 Gene

  • Solute Carrier Family 30 Member 2 2 3 4 5
  • Solute Carrier Family 30 (Zinc Transporter), Member 2 2 3
  • ZnT-2 3 4
  • ZNT2 3 4
  • Zinc Transporter 2 3
  • PP12488 3
  • TNZD 3

External Ids for SLC30A2 Gene

Previous HGNC Symbols for SLC30A2 Gene

  • ZNT2

Previous GeneCards Identifiers for SLC30A2 Gene

  • GC00U990435
  • GC01M025596
  • GC01M025970
  • GC01M025968
  • GC01M026236
  • GC01M026365
  • GC01M024618

Summaries for SLC30A2 Gene

Entrez Gene Summary for SLC30A2 Gene

  • The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

GeneCards Summary for SLC30A2 Gene

SLC30A2 (Solute Carrier Family 30 Member 2) is a Protein Coding gene. Diseases associated with SLC30A2 include Zinc Deficiency, Transient Neonatal and Acrodermatitis Enteropathica. 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 cation transmembrane transporter activity. An important paralog of this gene is SLC30A3.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC30A2 Gene

Genomics for SLC30A2 Gene

Regulatory Elements for SLC30A2 Gene

Enhancers for SLC30A2 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
GH01F026077 0.2 ENCODE 11.4 -33.1 -33136 2.9 HDAC1 CBX3 PKNOX1 CHAMP1 GATA2 SIRT6 FOS SMARCA5 ZBTB2 CEBPB TRIM63 SLC30A2 PDIK1L ENSG00000252190 ENSG00000252691 ENSG00000236782 ZNF593 FAM110D AIM1L HMGN2
GH01F026082 0.7 ENCODE 11.3 -37.3 -37270 1.3 PKNOX1 ZMYM3 ZNF121 POLR2A TRIM24 EZH2 SMARCC1 ZNF740 BHLHE40 CEBPB TRIM63 SLC30A2 PDIK1L ENSG00000252190 ENSG00000252691 ENSG00000236782 ZNF593 FAM110D AIM1L HMGN2
GH01F026084 1 ENCODE 11.3 -38.2 -38204 0.4 HDGF MCM7 POLR2A ZNF740 USF2 EZH2 SLC30A2 PDIK1L ENSG00000252190 ENSG00000252691 ENSG00000236782 ZNF593 FAM110D AIM1L HMGN2 GC01P026102
GH01F026081 0.2 ENCODE 11.3 -35.6 -35566 1.1 MLX ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 ZNF143 TRIM63 SLC30A2 PDIK1L ENSG00000252190 ENSG00000252691 ZNF593 ENSG00000236782 FAM110D AIM1L HMGN2
GH01F026145 0.6 Ensembl ENCODE 10.8 -99.2 -99163 0.6 HDGF ARID4B SIN3A ZNF2 ZNF121 GLIS2 GATA2 ZNF143 ZNF207 NCOA1 TRIM63 PDIK1L ZNF593 ENSG00000236782 SLC30A2 CD52 UBXN11 FAM110D LOC105376886
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC30A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC30A2 Gene

Chromosome:
1
Start:
26,037,252 bp from pter
End:
26,046,138 bp from pter
Size:
8,887 bases
Orientation:
Minus strand

Genomic View for SLC30A2 Gene

Genes around SLC30A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC30A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC30A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC30A2 Gene

Proteins for SLC30A2 Gene

  • Protein details for SLC30A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRI3-ZNT2_HUMAN
    Recommended name:
    Zinc transporter 2
    Protein Accession:
    Q9BRI3
    Secondary Accessions:
    • Q71RC8

    Protein attributes for SLC30A2 Gene

    Size:
    323 amino acids
    Molecular mass:
    35178 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for SLC30A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC30A2 Gene

Post-translational modifications for SLC30A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC30A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC30A2 Gene

Domains & Families for SLC30A2 Gene

Gene Families for SLC30A2 Gene

Protein Domains for SLC30A2 Gene

Suggested Antigen Peptide Sequences for SLC30A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BRI3

UniProtKB/Swiss-Prot:

ZNT2_HUMAN :
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
Family:
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
genes like me logo Genes that share domains with SLC30A2: view

Function for SLC30A2 Gene

Gene Ontology (GO) - Molecular Function for SLC30A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005385 zinc ion transmembrane transporter activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0008324 cation transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC30A2: view
genes like me logo Genes that share phenotypes with SLC30A2: view

Human Phenotype Ontology for SLC30A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC30A2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC30A2 Gene

Localization for SLC30A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC30A2 Gene

Vacuole membrane; Multi-pass membrane protein.
Isoform 2: Lysosome membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC30A2 Gene COMPARTMENTS Subcellular localization image for SLC30A2 gene
Compartment Confidence
endosome 5
lysosome 5
plasma membrane 5
vacuole 5
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC30A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 17349999
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 17897319
GO:0005770 late endosome IDA 17349999
GO:0005773 vacuole IEA --
genes like me logo Genes that share ontologies with SLC30A2: view

Pathways & Interactions for SLC30A2 Gene

genes like me logo Genes that share pathways with SLC30A2: view

Gene Ontology (GO) - Biological Process for SLC30A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006829 zinc II ion transport IEA --
GO:0010043 response to zinc ion IBA --
genes like me logo Genes that share ontologies with SLC30A2: view

No data available for SIGNOR curated interactions for SLC30A2 Gene

Drugs & Compounds for SLC30A2 Gene

(1) Drugs for SLC30A2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SLC30A2: view

Transcripts for SLC30A2 Gene

Unigene Clusters for SLC30A2 Gene

Solute carrier family 30 (zinc transporter), member 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC30A2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: - - -
SP2: -
SP3:

Relevant External Links for SLC30A2 Gene

GeneLoc Exon Structure for
SLC30A2
ECgene alternative splicing isoforms for
SLC30A2

Expression for SLC30A2 Gene

mRNA expression in normal human tissues for SLC30A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC30A2 Gene

This gene is overexpressed in Pancreas (x33.9) and Kidney - Cortex (x8.7).

Protein differential expression in normal tissues from HIPED for SLC30A2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC30A2 Gene



Protein tissue co-expression partners for SLC30A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC30A2 Gene:

SLC30A2

SOURCE GeneReport for Unigene cluster for SLC30A2 Gene:

Hs.143545
genes like me logo Genes that share expression patterns with SLC30A2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SLC30A2 Gene

Orthologs for SLC30A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC30A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC30A2 34 35
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia SLC30A2 34 35
  • 87.51 (n)
cow
(Bos Taurus)
Mammalia SLC30A2 34 35
  • 85.5 (n)
mouse
(Mus musculus)
Mammalia Slc30a2 34 16 35
  • 82.6 (n)
rat
(Rattus norvegicus)
Mammalia Slc30a2 34
  • 81.7 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC30A2 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC30A2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC30A2 34 35
  • 72.14 (n)
lizard
(Anolis carolinensis)
Reptilia SLC30A2 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc30a2 34
  • 68.04 (n)
Str.8408 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11702 34
zebrafish
(Danio rerio)
Actinopterygii slc30a2 34
  • 65.94 (n)
CR381630.1 35
  • 13 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta ZnT35C 34 35
  • 57.18 (n)
CG31860 35
  • 24 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009005 34
  • 56.81 (n)
worm
(Caenorhabditis elegans)
Secernentea cdf-2 34 35
  • 53.33 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ZRC1 35
  • 19 (a)
ManyToMany
COT1 35
  • 18 (a)
ManyToMany
MMT2 37
thale cress
(Arabidopsis thaliana)
eudicotyledons ZAT 34
  • 54.37 (n)
rice
(Oryza sativa)
Liliopsida Os05g0128400 34
  • 53.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToMany
Species where no ortholog for SLC30A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC30A2 Gene

ENSEMBL:
Gene Tree for SLC30A2 (if available)
TreeFam:
Gene Tree for SLC30A2 (if available)

Paralogs for SLC30A2 Gene

Paralogs for SLC30A2 Gene

(3) SIMAP similar genes for SLC30A2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC30A2: view

Variants for SLC30A2 Gene

Sequence variations from dbSNP and Humsavar for SLC30A2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs185398527 Zinc deficiency, transient neonatal (TNZD) [MIM:608118] 26,045,009(+) TTCTC(C/T)GATCA reference, missense
rs587776926 Zinc deficiency, transient neonatal (TNZD) [MIM:608118], Pathogenic 26,045,107(+) GAGCA(C/T)GGCAG reference, missense
rs864622019 Uncertain significance 26,042,626(-) TCCGA(A/G)CTGCC reference, missense
rs111459795 -- 26,043,212(+) CCAGT(G/T)TTCTT intron-variant
rs111796438 -- 26,043,187(+) GGATG(A/T)AGACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC30A2 Gene

Variant ID Type Subtype PubMed ID
nsv834513 CNV gain 17160897
nsv950338 CNV deletion 24416366

Variation tolerance for SLC30A2 Gene

Residual Variation Intolerance Score: 61.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.71; 32.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC30A2 Gene

Human Gene Mutation Database (HGMD)
SLC30A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC30A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC30A2 Gene

Disorders for SLC30A2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC30A2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
zinc deficiency, transient neonatal
  • zinc deficiency, neonatal, due to low breast milk zinc
acrodermatitis enteropathica
  • acrodermatitis enteropathica, zinc-deficiency type
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZNT2_HUMAN
  • Zinc deficiency, transient neonatal (TNZD) [MIM:608118]: A disorder occurring in breast-fed infants as a consequence of low milk zinc concentration in their nursing mothers, which cannot be corrected by maternal zinc supplementation. A large amount of zinc, an essential trace mineral, is required for normal growth particularly in infants, and breast milk normally contains adequate zinc to meet the requirement for infants up to 4 to 6 months of age. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. The disorder shows autosomal dominant inheritance with incomplete penetrance. {ECO:0000269 PubMed:17065149, ECO:0000269 PubMed:22733820}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC30A2

Genetic Association Database (GAD)
SLC30A2
Human Genome Epidemiology (HuGE) Navigator
SLC30A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC30A2
genes like me logo Genes that share disorders with SLC30A2: view

No data available for Genatlas for SLC30A2 Gene

Publications for SLC30A2 Gene

  1. A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency. (PMID: 22733820) Lasry I. … Assaraf Y.G. (J. Biol. Chem. 2012) 3 4 64
  2. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M. … Lan Q. (Environ. Mol. Mutagen. 2009) 3 46 64
  3. Zinc transporter-2 (ZnT2) variants are localized to distinct subcellular compartments and functionally transport zinc. (PMID: 19496757) Lopez V. … Kelleher S.L. (Biochem. J. 2009) 3 22 64
  4. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 46 64
  5. Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes. (PMID: 17349999) FalcA^n-PAcrez J.M. … Dell'Angelica E.C. (Exp. Cell Res. 2007) 3 22 64

Products for SLC30A2 Gene

Sources for SLC30A2 Gene

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