Gene Gene information from NCBI Gene database.
Entrez ID 7922
Gene name Solute carrier family 39 member 7
Gene symbol SLC39A7
Synonyms (NCBI Gene)
AGM9D6S115ED6S2244EH2-KE4HKE4KE4RING5ZIP7
Chromosome 6
Chromosome location 6p21.32
Summary The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of
miRNA miRNA information provided by mirtarbase database.
225
miRTarBase ID miRNA Experiments Reference
MIRT019558 hsa-miR-340-5p Sequencing 20371350
MIRT022098 hsa-miR-128-3p Sequencing 20371350
MIRT036341 hsa-miR-1229-3p CLASH 23622248
MIRT550644 hsa-miR-3163 PAR-CLIP 21572407
MIRT022098 hsa-miR-128-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0005385 Function Zinc ion transmembrane transporter activity IBA
GO:0005385 Function Zinc ion transmembrane transporter activity IDA 14525538
GO:0005385 Function Zinc ion transmembrane transporter activity IEA
GO:0005385 Function Zinc ion transmembrane transporter activity IMP 30718914
GO:0005385 Function Zinc ion transmembrane transporter activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601416 4927 ENSG00000112473
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92504
Protein name Zinc transporter SLC39A7 (Histidine-rich membrane protein Ke4) (Really interesting new gene 5 protein) (Solute carrier family 39 member 7) (Zrt-, Irt-like protein 7) (ZIP7)
Protein function Transports Zn(2+) from the endoplasmic reticulum (ER)/Golgi apparatus to the cytosol, playing an essential role in the regulation of cytosolic zinc levels (PubMed:14525538, PubMed:15705588, PubMed:28205653, PubMed:29980658). Acts as a gatekeeper
PDB 8GZE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02535 Zip 132 466 ZIP Zinc transporter Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:14525538, ECO:0000269|PubMed:15705588}.
Sequence
Sequence length 469
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Alzheimer disease
Parkinson disease
  Zinc influx into cells by the SLC39 gene family
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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
Agammaglobulinemia 9, autosomal recessive Pathogenic; Likely pathogenic rs771311186, rs1170038377, rs201790479, rs563866464, rs1026743380 RCV001810391
RCV001810392
RCV001810393
RCV002271714
RCV003990822
★★★★★
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
AGAMMAGLOBULINEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agammaglobulinemia Agammaglobulinemia GENOMICS_ENGLAND_DG 30718914
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 32645059 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18583420, 31483418
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31483418, 32744318, 35864548 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28981607 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 33535184 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 29285013
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervix carcinoma Cervix carcinoma BEFREE 29285013
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28981607
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms BEFREE 28981607
★☆☆☆☆
Found in Text Mining only