Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7780
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 30 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC30A2
Synonyms (NCBI Gene) Gene synonyms aliases
PP12488, TNZD, ZNT2, ZnT-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TNZD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.11
Summary Summary of gene provided in NCBI Entrez 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, A
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs185398527 C>T Pathogenic Coding sequence variant, missense variant
rs587776926 T>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017045 hsa-miR-335-5p Microarray 18185580
MIRT515990 hsa-miR-619-5p PAR-CLIP 23446348
MIRT515989 hsa-miR-6506-5p PAR-CLIP 23446348
MIRT515988 hsa-miR-4731-5p PAR-CLIP 23446348
MIRT515987 hsa-miR-5589-5p PAR-CLIP 23446348
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005385 Function Zinc ion transmembrane transporter activity IBA 21873635
GO:0005515 Function Protein binding IPI 25416956, 25657003, 25910212, 26728129, 26871637, 31515488, 32296183
GO:0005737 Component Cytoplasm IDA 17349999
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005770 Component Late endosome IDA 17349999
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609617 11013 ENSG00000158014
Protein
UniProt ID Q9BRI3
Protein name Proton-coupled zinc antiporter SLC30A2 (Solute carrier family 30 member 2) (Zinc transporter 2) (ZnT-2)
Protein function [Isoform 1]: Electroneutral proton-coupled antiporter concentrating zinc ions into a variety of intracellular organelles including endosomes, zymogen granules and mitochondria. Thereby, plays a crucial role in cellular zinc homeostasis to confer
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01545 Cation_efflux 76 229 Cation efflux family Family
Sequence
MEAKEKQHLLDARPAIRSYTGSLWQEGAGWIPLPRPGLDLQAIELAAQSNHHCHAQKGPD
SHCDPKKGKAQRQLYVASAICLLFMIGEVVEILGALVSVLSIWVVTGVLVYLAVERLISG
DYEIDGGTMLITSGCAVAVNIIMGLTLHQSGHGHSHGTTNQQEENPSVRAAFIHVIGDFM
QSMGVLVAAYILYFKPEYKYVDPICTFVFSILVLGTTLTILRDVILVLM
EGTPKGVDFTA
VRDLLLSVEGVEALHSLHIWALTVAQPVLSVHIAIAQNTDAQAVLKTASSRLQGKFHFHT
VTIQIEDYSEDMKDCQACQGPSD
Sequence length 323
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Zinc deficiency Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc rs587776926, rs185398527 17065149, 22733820
Unknown
Disease term Disease name Evidence References Source
Mental Depression Mental Depression GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 35049094
Hyperlipoproteinemia Type II Associate 20579458
Neoplasm Metastasis Inhibit 37591783
Prostatic Neoplasms Associate 35049094
Stomach Neoplasms Associate 33110097, 37591783, 39473403
Zinc Deficiency Neonatal due to Low Breast Milk Zinc Associate 22733820, 24451381, 25657003, 27137936, 27304099, 30450693