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] See more...

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
  • Zinc Transporter 2 3 4
  • ZnT-2 3 4
  • ZNT2 3 4
  • 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, Zinc-Deficiency Type. 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. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SLC30A3.

Additional gene information for SLC30A2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC30A2 Gene

Genomics for SLC30A2 Gene

GeneHancer (GH) Regulatory Elements for SLC30A2 Gene

Promoters and enhancers for SLC30A2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC30A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC30A2

Top Transcription factor binding sites by QIAGEN in the SLC30A2 gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • Lmo2
  • NF-1
  • NF-1/L
  • NF-E2
  • NF-E2 p45
  • USF-1
  • USF1

Genomic Locations for SLC30A2 Gene

Genomic Locations for SLC30A2 Gene
chr1:26,037,252-26,046,138
(GRCh38/hg38)
Size:
8,887 bases
Orientation:
Minus strand
chr1:26,363,743-26,372,624
(GRCh37/hg19)
Size:
8,882 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC30A2 Gene

Suggested Antigen Peptide Sequences for SLC30A2 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 30 member 2 (ZNT2_HUMAN)

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

Phenotypes From GWAS Catalog 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 21873635
GO:0005515 protein binding IPI 25416956
GO:0008324 cation transmembrane transporter activity IEA --
GO:0042802 identical protein binding IPI 25657003
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 Models for SLC30A2 Gene

MGI Knock Outs for SLC30A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC30A2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC30A2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
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 SLC30A2 gene
Compartment Confidence
lysosome 5
plasma membrane 4
endosome 4
mitochondrion 2
cytosol 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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,HDA 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:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006829 zinc ion transport IEA --
GO:0010043 response to zinc ion IBA 21873635
GO:0055085 transmembrane transport IEA --
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

mRNA/cDNA for SLC30A2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 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 SLC30A2

Clone 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

Expression for SLC30A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for SLC30A2 Gene



Protein tissue co-expression partners for SLC30A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC30A2

SOURCE GeneReport for Unigene cluster for SLC30A2 Gene:

Hs.143545

Evidence on tissue expression from TISSUES for SLC30A2 Gene

  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC30A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • immune
  • integumentary
Regions:
Abdomen:
  • intestine
  • large intestine
  • small intestine
General:
  • blood
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SLC30A2: view

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 31 30
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC30A2 31 30
  • 87.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC30A2 31 30
  • 85.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc30a2 17 31 30
  • 82.6 (n)
rat
(Rattus norvegicus)
Mammalia Slc30a2 30
  • 81.7 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC30A2 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC30A2 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC30A2 31 30
  • 72.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC30A2 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc30a2 30
  • 68.04 (n)
Str.8408 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.11702 30
zebrafish
(Danio rerio)
Actinopterygii slc30a2 30
  • 65.94 (n)
CR381630.1 31
  • 13 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta ZnT35C 31 30
  • 57.18 (n)
ManyToMany
CG31860 31
  • 24 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009005 30
  • 56.81 (n)
worm
(Caenorhabditis elegans)
Secernentea cdf-2 31 30
  • 53.33 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ZRC1 31
  • 19 (a)
ManyToMany
COT1 31
  • 18 (a)
ManyToMany
MMT2 33
thale cress
(Arabidopsis thaliana)
eudicotyledons ZAT 30
  • 54.37 (n)
rice
(Oryza sativa)
Liliopsida Os05g0128400 30
  • 53.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC30A2: view image

Paralogs for SLC30A2 Gene

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

  • ZNT2_HUMAN
genes like me logo Genes that share paralogs with SLC30A2: view

Variants for SLC30A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC30A2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
39553 Pathogenic: Zinc deficiency, transient neonatal 26,045,009(-) C/T MISSENSE_VARIANT
789148 Benign: not provided 26,039,829(-) A/G SYNONYMOUS_VARIANT
rs185398527 Zinc deficiency, transient neonatal (TNZD) [MIM:608118] p.Gly87Arg
rs587776926 Pathogenic: Zinc deficiency, transient neonatal. Zinc deficiency, transient neonatal (TNZD) [MIM:608118] 26,045,107(-) T/Cp.His54Arg MISSENSE_VARIANT
rs864622019 Uncertain Significance: Malignant tumor of prostate 26,042,626(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SLC30A2 Gene

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)

Additional Variant Information 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

(4) MalaCards diseases for SLC30A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- 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.

Additional Disease Information for SLC30A2

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 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 YG (The Journal of biological chemistry 2012) 3 4 54
  2. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M … Lan Q (Environmental and molecular mutagenesis 2009) 3 41 54
  3. Zinc transporter-2 (ZnT2) variants are localized to distinct subcellular compartments and functionally transport zinc. (PMID: 19496757) Lopez V … Kelleher SL (The Biochemical journal 2009) 3 23 54
  4. 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
  5. Integral and associated lysosomal membrane proteins. (PMID: 17897319) Schröder B … Hasilik A (Traffic (Copenhagen, Denmark) 2007) 3 4 54

Products for SLC30A2 Gene

Sources for SLC30A2 Gene