SLC30A2 (solute carrier family 30 member 2)

2014-11-01 Affiliation

Identity

HGNC

SLC30A2

LOCATION

1p36.11

LOCUSID

7780

ALIAS

PP12488,TNZD,ZNT2,ZnT-2

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000158014	ENST00000374276	Q9BRI3
ENSG00000158014	ENST00000374278	Q9BRI3

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	REACTOME	R-HSA-425366
Metal ion SLC transporters	REACTOME	R-HSA-425410
Zinc transporters	REACTOME	R-HSA-435354
Zinc efflux and compartmentalization by the SLC30 family	REACTOME	R-HSA-435368

References

Pubmed ID	Year	Title	Citations
17065149	2006	Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency.	78
19496757	2009	Zinc transporter-2 (ZnT2) variants are localized to distinct subcellular compartments and functionally transport zinc.	39
22733820	2012	A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.	28
17349999	2007	Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes.	27
21462106	2010	Gastrointestinal factors influencing zinc absorption and homeostasis.	24
17971500	2008	Intracellular zinc homeostasis in leukocyte subsets is regulated by different expression of zinc exporters ZnT-1 to ZnT-9.	22
19064571	2008	Polymorphisms in mitochondrial genes and prostate cancer risk.	20
26293594	2015	Exome Sequencing of SLC30A2 Identifies Novel Loss- and Gain-of-Function Variants Associated with Breast Cell Dysfunction.	12
27304099	2016	Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency.	12
22364884	2012	Polymorphisms of SLC30A2 and selected perinatal factors associated with low milk zinc in Chinese breastfeeding women.	8

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