SLC30A2 (solute carrier family 30 member 2)

2014-11-01  

Identity

HGNC
LOCATION
1p36.11
LOCUSID
ALIAS
PP12488,TNZD,ZNT2,ZnT-2

Other Information

Locus ID:

NCBI: 7780
MIM: 609617
HGNC: 11013
Ensembl: ENSG00000158014

Variants:

dbSNP: 7780
ClinVar: 7780
TCGA: ENSG00000158014
COSMIC: SLC30A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158014ENST00000374276Q9BRI3
ENSG00000158014ENST00000374278Q9BRI3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Metal ion SLC transportersREACTOMER-HSA-425410
Zinc transportersREACTOMER-HSA-435354
Zinc efflux and compartmentalization by the SLC30 familyREACTOMER-HSA-435368

References

Pubmed IDYearTitleCitations
349651802022Loss-of-function SLC30A2 mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants.6
349651802022Loss-of-function SLC30A2 mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants.6
322783242020A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency.4
323202892020A common genetic variant in zinc transporter ZnT2 (Thr288Ser) is present in women with low milk volume and alters lysosome function and cell energetics.6
322783242020A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency.4
323202892020A common genetic variant in zinc transporter ZnT2 (Thr288Ser) is present in women with low milk volume and alters lysosome function and cell energetics.6
304506932019High proportion of transient neonatal zinc deficiency causing alleles in the general population.9
314816612019Milk-derived miRNA profiles elucidate molecular pathways that underlie breast dysfunction in women with common genetic variants in SLC30A2.9
304506932019High proportion of transient neonatal zinc deficiency causing alleles in the general population.9
314816612019Milk-derived miRNA profiles elucidate molecular pathways that underlie breast dysfunction in women with common genetic variants in SLC30A2.9
293723702018SLC30A family expression in the pancreatic islets of humans and mice: cellular localization in the β-cells.4
294760702018A genetic variant in SLC30A2 causes breast dysfunction during lactation by inducing ER stress, oxidative stress and epithelial barrier defects.9
293723702018SLC30A family expression in the pancreatic islets of humans and mice: cellular localization in the β-cells.4
294760702018A genetic variant in SLC30A2 causes breast dysfunction during lactation by inducing ER stress, oxidative stress and epithelial barrier defects.9
286654352017The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.13

Citation

Dessen P

SLC30A2 (solute carrier family 30 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73388/slc30a2-(solute-carrier-family-30-member-2)