Property Summary

NCBI Gene PubMed Count 20
Grant Count 7
R01 Count 6
Funding $720,479
PubMed Score 37.56
PubTator Score 25.62

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9BRI3 Q71RC8 ZnT-2
Symbols TNZD
ZNT2
ZnT-2
PP12488

Gene

PANTHER Protein Class (1)

Gene RIF (13)

PMID Text
27137936 findings establish that some heterozygous loss of function ZnT2 mutations disrupt zinc binding and zinc permeation, thereby suggesting a haploinsufficiency state for the unaffected WT ZnT2 allele in Transient Neonatal Zinc Deficiency
26293594 Our study indicates that SLC30A2 variants are common in this population, dysregulate Zn management and can lead to breast cell dysfunction.
25618524 Human ZnT2 expression is regulated by MTF-1.
24333596 PRL-R attenuation post-transcriptionally increased ZnT2 abundance and redistributed intracellular Zn pools into lysosomes and mitochondria.
22733820 inactivating ZnT-2 mutations are an underlying basis of TNZD and provide the first evidence for the dominant inheritance of heterozygous ZnT-2 mutations via negative dominance due to homodimer formation.
22364884 Results indicated that -697G>T and 1031A>G polymorphisms in the SLC30A2 gene may be associated with low-milk-zinc in Chinese breastfeeding women.
21462106 Pancreatic release of zinc by acinar cells is through the secretory process and apical membrane and involves transporter ZnT2
19496757 The localization and function of each ZnT2 isoform, was examined.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19064571 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MEAKEKQHLLDARPAIRSYTGSLWQEGAGWIPLPRPGLDLQAIELAAQSNHHCHAQKGPDSHCDPKKGKA      1 - 70
QRQLYVASAICLLFMIGEVVEILGALVSVLSIWVVTGVLVYLAVERLISGDYEIDGGTMLITSGCAVAVN     71 - 140
IIMGLTLHQSGHGHSHGTTNQQEENPSVRAAFIHVIGDFMQSMGVLVAAYILYFKPEYKYVDPICTFVFS    141 - 210
ILVLGTTLTILRDVILVLMEGTPKGVDFTAVRDLLLSVEGVEALHSLHIWALTVAQPVLSVHIAIAQNTD    211 - 280
AQAVLKTASSRLQGKFHFHTVTIQIEDYSEDMKDCQACQGPSD                               281 - 323
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Text Mined References (23)

PMID Year Title
27137936 2016 Molecular Basis of Transient Neonatal Zinc Deficiency: NOVEL ZnT2 MUTATIONS DISRUPTING ZINC BINDING AND PERMEATION.
26293594 2015 Exome Sequencing of SLC30A2 Identifies Novel Loss- and Gain-of-Function Variants Associated with Breast Cell Dysfunction.
25618524 2015 Coordinative modulation of human zinc transporter 2 gene expression through active and suppressive regulators.
25416956 2014 A proteome-scale map of the human interactome network.
24745988 2014 The families of zinc (SLC30 and SLC39) and copper (SLC31) transporters.
24456035 Transient neonatal zinc deficiency due to a new autosomal dominant mutation in gene SLC30A2 (ZnT-2).
24333596 2014 Prolactin receptor attenuation induces zinc pool redistribution through ZnT2 and decreases invasion in MDA-MB-453 breast cancer cells.
22733820 2012 A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.
22364884 2012 Polymorphisms of SLC30A2 and selected perinatal factors associated with low milk zinc in Chinese breastfeeding women.
21462106 2010 Gastrointestinal factors influencing zinc absorption and homeostasis.
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