Gene Gene information from NCBI Gene database.
Entrez ID 64924
Gene name Solute carrier family 30 member 5
Gene symbol SLC30A5
Synonyms (NCBI Gene)
ZNT5ZNTL1ZTL1ZnT-5
Chromosome 5
Chromosome location 5q13.1-q13.2
Summary This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a he
miRNA miRNA information provided by mirtarbase database.
309
miRTarBase ID miRNA Experiments Reference
MIRT044053 hsa-miR-361-5p CLASH 23622248
MIRT699395 hsa-miR-33a-3p HITS-CLIP 23313552
MIRT699394 hsa-miR-6841-5p HITS-CLIP 23313552
MIRT699393 hsa-miR-6755-5p HITS-CLIP 23313552
MIRT699392 hsa-miR-135a-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 21887337
GO:0000139 Component Golgi membrane TAS
GO:0005385 Function Zinc ion transmembrane transporter activity IBA
GO:0005385 Function Zinc ion transmembrane transporter activity IDA 11904301, 11937503, 15525635, 15994300, 17355957, 22529353
GO:0005385 Function Zinc ion transmembrane transporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607819 19089 ENSG00000145740
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TAD4
Protein name Proton-coupled zinc antiporter SLC30A5 (Solute carrier family 30 member 5) (Zinc transporter 5) (ZnT-5) (ZnT-like transporter 1) (hZTL1)
Protein function Together with SLC30A6 forms a functional proton-coupled zinc ion antiporter mediating zinc entry into the lumen of organelles along the secretory pathway (PubMed:11904301, PubMed:15525635, PubMed:15994300, PubMed:19366695, PubMed:22529353). By c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01545 Cation_efflux 419 649 Cation efflux family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:11904301, PubMed:12095919). Highly expressed in pancreas, liver and kidney (PubMed:11904301). Expressed abundantly in insulin-containing beta cells, undetectable in other endocrine cell types including gl
Sequence
MEEKYGGDVLAGPGGGGGLGPVDVPSARLTKYIVLLCFTKFLKAVGLFESYDLLKAVHIV
QFIFILKLGTAFFMVLFQKPFSSGKTITKHQWIKIFKHAVAGCIISLLWFFGLTLCGPLR
TLLLFEHSDIVVISLLSVLFTSSGGGPAKTRGAAFFIIAVICLLLFDNDDLMAKMAEHPE
GHHDSALTHMLYTAIAFLGVADHKGGVLLLVLALCCKVGFHTASRKLSVDVGGAKRLQAL
SHLVSVLLLCPWVIVLSVTTESKVESWFSLIMPFATVIFFVMILDFYVDSICSVKMEVSK
CARYGSFPIFISALLFGNFWTHPITDQLRAMNKAAHQESTEHVLSGGVVVSAIFFILSAN
ILSSPSKRGQKGTLIGYSPEGTPLYNFMGDAFQHSSQSIPRFIKESLKQILEESDSRQIF
YFLCLNLLFTFVELFYGVLTNSLGLISDGFHMLFDCSALVMGLFAALMSRWKATRIFSYG
YGRIEILSGFINGLFLIVIAFFVFMESVARLIDPPELDTHMLTPVSVGGLIVNLIGICAF
SHAHSHAHGASQGSCHSSDHSHSHHMHGHSDHGHGHSHGSAGGGMNANMRGVFLHVLADT
LGSIGVIVSTVLIEQFGWFIADPLCSLFIAILIFLSVVPLIKDACQVLL
LRLPPEYEKEL
HIALEKIQKIEGLISYRDPHFWRHSASIVAGTIHIQVTSDVLEQRIVQQVTGILKDAGVN
NLTIQVEKEAYFQHMSGLSTGFHDVLAMTKQMESMKYCKDGTYIM
Sequence length 765
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Insulin processing
Zinc efflux and compartmentalization by the SLC30 family
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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
Concentric hypertrophic cardiomyopathy Likely pathogenic rs1746359403, rs1746589361 RCV001270627
RCV001270628
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrops fetalis Likely pathogenic rs1746359403, rs1746589361 RCV001270627
RCV001270628
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy Likely pathogenic rs1746359403, rs1746589361 RCV001270627
RCV001270628
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noncompaction cardiomyopathy Likely pathogenic rs1746359403, rs1746589361 RCV001270627
RCV001270628
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cardiomyopathies Associate 33547425
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major Stimulate 27661418
★☆☆☆☆
Found in Text Mining only
Glioma Associate 23595627
★☆☆☆☆
Found in Text Mining only
Heart Diseases Associate 33547425
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 27833104
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Associate 33110097
★☆☆☆☆
Found in Text Mining only