Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
148867
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 30 member 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC30A7
Synonyms (NCBI Gene) Gene synonyms aliases
ZHS, ZNT7, ZnT-7, ZnTL2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ZHS
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellu
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1057519442 CA>AG Pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016502 hsa-miR-193b-3p Microarray 20304954
MIRT020907 hsa-miR-155-5p Proteomics 18668040
MIRT002641 hsa-miR-124-3p Microarray 15685193
MIRT032430 hsa-let-7b-5p Proteomics 18668040
MIRT046965 hsa-miR-221-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IDA 17349999
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0005794 Component Golgi apparatus IDA 17349999
GO:0006829 Process Zinc ion transport IEA
GO:0008324 Function Cation transmembrane transporter activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611149 19306 ENSG00000162695
Protein
UniProt ID Q8NEW0
Protein name Zinc transporter 7 (ZnT-7) (Solute carrier family 30 member 7) (Znt-like transporter 2)
Protein function Zinc ion transporter mediating zinc entry from the cytosol into the lumen of organelles along the secretory pathway (PubMed:15525635, PubMed:15994300). By contributing to zinc ion homeostasis within the early secretory pathway, regulates the act
PDB 8J7T , 8J7U , 8J7V , 8J7W , 8J7X , 8J7Y , 8J80
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01545 Cation_efflux 38 294 Cation efflux family Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in megakaryocytes and other bone marrow cells and in the epithelium of the small intestine. Expressed in testis (in Leydig cells), adrenal gland (in adrenal medula, zona fasciculata and zona of reticularis), and pituit
Sequence
Sequence length 376
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Esophagus neoplasm Esophageal Neoplasms, Malignant neoplasm of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 17068819
Joubert syndrome Joubert syndrome 1 rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129
View all (432 more)
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
21833088
Unknown
Disease term Disease name Evidence References Source
Multiple Sclerosis Multiple Sclerosis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 35751429
Diabetic Retinopathy Associate 35607288
Glioma Associate 23595627
Multiple Sclerosis Associate 25231264, 33802599
Multiple Sclerosis Stimulate 33802599