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.
110
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 (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
Hypermanganesemia with dystonia, polycythemia, and cirrhosis Likely pathogenic; Pathogenic rs2527884093, rs281860285, rs281860284, rs281860288, rs281860287, rs281860292, rs281860290 RCV003480013
RCV000023870
RCV000023871
RCV000023872
RCV000023873
View all (2 more)
★★★★★
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
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
Anemia Iron Deficiency Iron deficiency anemia Pubtator 34315874 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 27487045
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 31233999 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 31233999
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 18591387, 19590848, 19655390, 22526607, 23296174, 23861236, 27487045, 28358037, 28943512, 30783963, 31148332, 31444530
★☆☆☆☆
Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease Parkinson Disease CTD_human_DG 26220508
★☆☆☆☆
Found in Text Mining only
Autosomal Dominant Parkinsonism Parkinsonian disease CTD_human_DG 26220508
★☆☆☆☆
Found in Text Mining only
Autosomal Recessive Parkinsonism Parkinsonian disease CTD_human_DG 26220508
★☆☆☆☆
Found in Text Mining only
Bile Duct Neoplasms Bile duct neoplasms Pubtator 34315874 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32247823 Associate
★☆☆☆☆
Found in Text Mining only