Gene Gene information from NCBI Gene database.
Entrez ID 148867
Gene name Solute carrier family 30 member 7
Gene symbol SLC30A7
Synonyms (NCBI Gene)
ZHSZNT7ZnT-7ZnTL2
Chromosome 1
Chromosome location 1p21.2
Summary 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.
1
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.
1190
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005385 Function Zinc ion transmembrane transporter activity IBA
GO:0005385 Function Zinc ion transmembrane transporter activity IDA 15525635, 15994300
GO:0005385 Function Zinc ion transmembrane transporter activity IEA
GO:0005737 Component Cytoplasm IDA 17349999
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611149 19306 ENSG00000162695
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Decreased testicular size Likely pathogenic rs1413055215 RCV003164487
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 1 Pathogenic rs1057519442 RCV000416450
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Testicular atrophy Likely pathogenic rs2524688991 RCV003222416
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ziegler-Huang syndrome Likely pathogenic rs1413055215, rs2524688991 RCV003326014
RCV003326015
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATROPHY OF TESTIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Agenesis of Cerebellar Vermis Associate 35751429
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Associate 35607288
★☆☆☆☆
Found in Text Mining only
Glioma Associate 23595627
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Associate 25231264, 33802599
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis Stimulate 33802599
★★☆☆☆
Found in Text Mining + Unknown/Other Associations