Version 5.4
Homo sapiens Protein: SLC30A2
Summary
InnateDB Protein IDBP-94462.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC30A2
Protein Name solute carrier family 30 (zinc transporter), member 2
Synonyms PP12488; TNZD; ZnT-2; ZNT2;
Species Homo sapiens
Ensembl Protein ENSP00000363394
InnateDB Gene IDBG-94458 (SLC30A2)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Vacuole membrane {ECO:0000269PubMed:17897319}; Multi-pass membrane protein {ECO:0000269PubMed:17897319}.Isoform 2: Lysosome membrane.
Disease Associations 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:0000269PubMed:17065149, ECO:0000269PubMed:22733820}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008324 cation transmembrane transporter activity
Biological Process
GO:0006812 cation transport
GO:0006829 zinc ion transport
GO:0055085 transmembrane transport
GO:0061090 positive regulation of sequestering of zinc ion
Cellular Component
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005770 late endosome
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR002524 Cation efflux protein
PFAM PF01545
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BRI3
PhosphoSite PhosphoSite-Q9BRI3
TrEMBL
UniProt Splice Variant
Entrez Gene 7780
UniGene Hs.143545
RefSeq NP_001004434
HUGO HGNC:11013
OMIM 609617
CCDS CCDS30644
HPRD 18057
IMGT
EMBL AF370409 AL391650 BC006251
GenPept AAH06251 AAQ15245 CAI17131 CAI17132

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca