Gene Gene information from NCBI Gene database.
Entrez ID 55532
Gene name Solute carrier family 30 member 10
Gene symbol SLC30A10
Synonyms (NCBI Gene)
HMDPCHMNDYT1ZNT10ZNT8ZRC1ZnT-10
Chromosome 1
Chromosome location 1q41
Summary This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleo
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs281860289 CAC>- Pathogenic Non coding transcript variant, inframe deletion, coding sequence variant
rs281860290 G>A Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs281860291 A>G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs281860292 T>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs770740586 G>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT030334 hsa-miR-26b-5p Microarray 19088304
MIRT717620 hsa-miR-3189-3p HITS-CLIP 19536157
MIRT717619 hsa-miR-635 HITS-CLIP 19536157
MIRT717618 hsa-miR-6774-5p HITS-CLIP 19536157
MIRT717617 hsa-miR-4424 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005384 Function Manganese ion transmembrane transporter activity IDA 25319704
GO:0005384 Function Manganese ion transmembrane transporter activity IMP 27226609, 27307044
GO:0005384 Function Manganese ion transmembrane transporter activity TAS
GO:0005385 Function Zinc ion transmembrane transporter activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611146 25355 ENSG00000196660
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6XR72
Protein name Calcium/manganese antiporter SLC30A10 (Solute carrier family 30 member 10) (Zinc transporter 10) (ZnT-10)
Protein function Calcium:manganese antiporter of the plasma membrane mediating the efflux of intracellular manganese coupled to an active extracellular calcium exchange (PubMed:30755481). Required for intracellular manganese homeostasis, an essential cation for
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01545 Cation_efflux 11 307 Cation efflux family Family
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in fetal liver and fetal brain (PubMed:15154973). Expressed in adult tissues with relative levels small intestine > liver > testes > brain > ovary > colon > cervix > prostate > placenta (PubMed:22706290). Express
Sequence
Sequence length 485
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Metal ion SLC transporters
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypermanganesemia with dystonia, polycythemia, and cirrhosis Likely pathogenic; Pathogenic rs2527884093, rs281860285, rs281860284, rs281860288, rs281860287, rs281860292, rs281860290 RCV003480013
RCV000023870
RCV000023871
RCV000023872
RCV000023873
RCV000023874
RCV000031961
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital Erythrocytosis Uncertain significance rs761372248 RCV003326036
SLC30A10-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs772219560, rs61832076, rs539271108, rs768453360, rs763073204 RCV003971343
RCV003967837
RCV003940106
RCV003909126
RCV003934085
Uterine corpus endometrial carcinoma Likely benign rs2231735 RCV005915998
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 31167208
Adenocarcinoma Associate 35049094
Alcoholic Intoxication Associate 27107558
Anemia Iron Deficiency Associate 34315874
Attention Deficit Disorder with Hyperactivity Associate 31233999
Bile Duct Neoplasms Associate 34315874
Carcinoma Hepatocellular Associate 32247823
Carcinoma Non Small Cell Lung Associate 38384053
Colorectal Neoplasms Associate 32071364, 32351322, 39596116
Colorectal Neoplasms Inhibit 32633358