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 pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been obser... See more...

Aliases for SLC30A10 Gene

Aliases for SLC30A10 Gene

  • Solute Carrier Family 30 Member 10 2 3 4 5
  • ZnT-10 2 3 4
  • ZNT8 2 3 4
  • Manganese Transporter SLC30A10 3 4
  • Zinc Transporter 10 3 4
  • Zinc Transporter 8 2 3
  • ZNT10 3 4
  • ZRC1 2 3
  • Solute Carrier Family 30, Member 10 2
  • DKFZp547M236 2
  • SLC30A10 5
  • HMNDYT1 3
  • HMDPC 3

External Ids for SLC30A10 Gene

Previous GeneCards Identifiers for SLC30A10 Gene

  • GC01M216475
  • GC01M218153
  • GC01M219858
  • GC01M190762

Summaries for SLC30A10 Gene

Entrez Gene Summary for SLC30A10 Gene

  • 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 pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for SLC30A10 Gene

SLC30A10 (Solute Carrier Family 30 Member 10) is a Protein Coding gene. Diseases associated with SLC30A10 include Hypermanganesemia With Dystonia 1 and Hypermanganesemia With Dystonia. Among its related pathways are Metal ion SLC transporters. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SLC30A1.

UniProtKB/Swiss-Prot Summary for SLC30A10 Gene

  • Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. However, elevated levels of manganese are cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis. Acts as manganese efflux transporter and confers protection against manganese-induced cell death (PubMed:22341972, PubMed:22341971, PubMed:25319704, PubMed:27226609, PubMed:27307044). Also acts as zinc transporter involved in zinc homeostasis. Seems to mediate zinc transport into early endosomes and recycling endosomes to prevent zinc toxicity; the function may be regulated by heterodimerization with other zinc transporters of the SLC30A subfamily. The SLC30A3:SLC30A10 heterodimer is involved in zinc transport-dependent regulation of the EGFR/ERK transduction pathway in endosomes. May be involved in regulation of zinc-dependent senescence of vascular smooth muscle cells (PubMed:22706290, PubMed:22427991, PubMed:26728129).

Additional gene information for SLC30A10 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC30A10 Gene

Genomics for SLC30A10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC30A10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J219925 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.3 +31.5 31452 3.6 GATAD2A HNRNPL REST ZNF512 NFKBIZ ZNF692 RCOR2 JUND MTA2 ZIC2 LOC107985281 SLC30A10 RPS15AP12 ZC3H11B RIMKLBP2 piR-48820-010
GH01J219958 Enhancer 0.8 ENCODE 600.7 -0.1 -72 2.1 PRDM10 ZNF692 ZSCAN4 ZNF24 ZNF501 ZNF600 ZNF561 ZBTB44 ZNF524 ZNF10 SLC30A10 EPRS1 ENSG00000221673 lnc-EPRS-1
GH01J219902 Enhancer 1.2 Ensembl ENCODE 17.3 +53.2 53171 6.1 RNF2 ARHGAP35 ZNF512 LEF1 IKZF1 JUND DDX20 MTA2 PHF21A PKNOX1 lnc-EPRS-4 ZC3H11B SLC30A10 ENSG00000221673 RPS15AP12 piR-57195-025
GH01J219917 Enhancer 0.8 Ensembl ENCODE 11.3 +40.9 40903 1.6 CEBPB NFE2 ZNF316 JUN JUND EP300 FOSL2 NR2F1 ATF4 HIC1 SLC30A10 ENSG00000221673 piR-48820-010 lnc-EPRS-4 ZC3H11B
GH01J219876 Enhancer 0.7 ENCODE 10.2 +82.2 82240 0.1 CTCF REST BRD9 ZNF24 GATAD2B CBX3 TAF9B EP400 ARNT ZNF318 SLC30A10 LOC105372926 piR-52368-010 ZC3H11B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC30A10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC30A10

Top Transcription factor binding sites by QIAGEN in the SLC30A10 gene promoter:
  • E2F
  • E2F-1
  • HNF-1
  • HNF-1A
  • NRSF form 1
  • NRSF form 2
  • Pax-2
  • Pax-2a

Genomic Locations for SLC30A10 Gene

Genomic Locations for SLC30A10 Gene
chr1:219,685,427-219,959,098
(GRCh38/hg38)
Size:
273,672 bases
Orientation:
Minus strand
chr1:219,858,769-220,131,989
(GRCh37/hg19)
Size:
273,221 bases
Orientation:
Minus strand

Genomic View for SLC30A10 Gene

Genes around SLC30A10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC30A10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC30A10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC30A10 Gene

Proteins for SLC30A10 Gene

  • Protein details for SLC30A10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6XR72-ZNT10_HUMAN
    Recommended name:
    Zinc transporter 10
    Protein Accession:
    Q6XR72
    Secondary Accessions:
    • Q49AL9
    • Q9NPW0

    Protein attributes for SLC30A10 Gene

    Size:
    485 amino acids
    Molecular mass:
    52684 Da
    Quaternary structure:
    • Forms homodimers. Forms heterodimers and high-molecular weight oligomers with SLC30A3, SLC30A2 and SLC30A4; heterodimerization is mediated by covalent-bound tyrosine residues and occurs probably in a tissue-specific manner.
    SequenceCaution:
    • Sequence=AAP44332.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in position 427.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for SLC30A10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC30A10 Gene

Post-translational modifications for SLC30A10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC30A10 Gene

No data available for DME Specific Peptides for SLC30A10 Gene

Domains & Families for SLC30A10 Gene

Gene Families for SLC30A10 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC30A10 Gene

InterPro:
Blocks:
  • Cation efflux protein
ProtoNet:

Suggested Antigen Peptide Sequences for SLC30A10 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33487 fis, clone BRAMY2003538, highly similar to Homo sapiens solute carrier family 30, member 10 (SLC30A10), transcript variant 1, mRNA (B3KR19_HUMAN)
  • SLC30A10 protein (Q1RMY7_HUMAN)
  • Solute carrier family 30 member 10 (ZNT10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6XR72

UniProtKB/Swiss-Prot:

ZNT10_HUMAN :
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
Family:
  • Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.
genes like me logo Genes that share domains with SLC30A10: view

Function for SLC30A10 Gene

Molecular function for SLC30A10 Gene

UniProtKB/Swiss-Prot Function:
Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. However, elevated levels of manganese are cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis. Acts as manganese efflux transporter and confers protection against manganese-induced cell death (PubMed:22341972, PubMed:22341971, PubMed:25319704, PubMed:27226609, PubMed:27307044). Also acts as zinc transporter involved in zinc homeostasis. Seems to mediate zinc transport into early endosomes and recycling endosomes to prevent zinc toxicity; the function may be regulated by heterodimerization with other zinc transporters of the SLC30A subfamily. The SLC30A3:SLC30A10 heterodimer is involved in zinc transport-dependent regulation of the EGFR/ERK transduction pathway in endosomes. May be involved in regulation of zinc-dependent senescence of vascular smooth muscle cells (PubMed:22706290, PubMed:22427991, PubMed:26728129).
UniProtKB/Swiss-Prot Induction:
Down-regulated by ZNF658 in response to zinc. Down-regulated by angiotensin-2.

Phenotypes From GWAS Catalog for SLC30A10 Gene

Gene Ontology (GO) - Molecular Function for SLC30A10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005384 manganese ion transmembrane transporter activity TAS --
GO:0005385 zinc ion transmembrane transporter activity IBA 21873635
GO:0005515 protein binding IPI 26728129
GO:0008324 cation transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC30A10: view
genes like me logo Genes that share phenotypes with SLC30A10: view

Human Phenotype Ontology for SLC30A10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC30A10 Gene

MGI Knock Outs for SLC30A10:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC30A10

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC30A10

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC30A10 Gene

Localization for SLC30A10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC30A10 Gene

Cell membrane. Multi-pass membrane protein. Golgi apparatus, trans-Golgi network. Recycling endosome. Early endosome. Note=Relocalized from the trans-Golgi network to the plasma membrane upon elevated extracellular Zn concentrations (PubMed:22706290). {ECO:0000269 PubMed:22706290}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC30A10 gene
Compartment Confidence
endosome 5
plasma membrane 4
golgi apparatus 4
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC30A10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 26728129
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC30A10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC30A10 Gene

Pathways & Interactions for SLC30A10 Gene

PathCards logo

SuperPathways for SLC30A10 Gene

SuperPathway Contained pathways
1 Metal ion SLC transporters
genes like me logo Genes that share pathways with SLC30A10: view

Pathways by source for SLC30A10 Gene

1 BioSystems pathway for SLC30A10 Gene

Gene Ontology (GO) - Biological Process for SLC30A10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006828 manganese ion transport IMP 22341972
GO:0006829 zinc ion transport IEA --
GO:0006882 cellular zinc ion homeostasis IBA 21873635
genes like me logo Genes that share ontologies with SLC30A10: view

No data available for SIGNOR curated interactions for SLC30A10 Gene

Drugs & Compounds for SLC30A10 Gene

(3) Drugs for SLC30A10 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc chloride Approved, Investigational Pharma Transporter, substrate 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Transporter, substrate 0
genes like me logo Genes that share compounds with SLC30A10: view

Transcripts for SLC30A10 Gene

mRNA/cDNA for SLC30A10 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC30A10

Alternative Splicing Database (ASD) splice patterns (SP) for SLC30A10 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c
SP1: -
SP2: - -
SP3:

Relevant External Links for SLC30A10 Gene

GeneLoc Exon Structure for
SLC30A10

Expression for SLC30A10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC30A10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC30A10 Gene

This gene is overexpressed in Liver (x17.9).

Protein differential expression in normal tissues from HIPED for SLC30A10 Gene

This gene is overexpressed in Fetal Liver (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC30A10 Gene



Protein tissue co-expression partners for SLC30A10 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC30A10

SOURCE GeneReport for Unigene cluster for SLC30A10 Gene:

Hs.284450

mRNA Expression by UniProt/SwissProt for SLC30A10 Gene:

Q6XR72-ZNT10_HUMAN
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).

Evidence on tissue expression from TISSUES for SLC30A10 Gene

  • Nervous system(4.5)
  • Liver(3.4)
  • Pancreas(3)
  • Blood(2.4)
  • Intestine(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC30A10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SLC30A10: view

Primer Products

Orthologs for SLC30A10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC30A10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC30A10 30 31
  • 99.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC30A10 30 31
  • 86.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc30a10 30 17 31
  • 82.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc30a10 30
  • 81.57 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC30A10 31
  • 71 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC30A10 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC30A10 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC30A10 30 31
  • 64.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC30A10 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc30a10 30
  • 66.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15729 30
Zebrafish
(Danio rerio)
Actinopterygii slc30a10 30 31
  • 62.71 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5130 31
  • 20 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea cdf-1 31
  • 20 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ZRC1 31
  • 31 (a)
ManyToMany
COT1 31 33
  • 29 (a)
ManyToMany
Species where no ortholog for SLC30A10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC30A10 Gene

ENSEMBL:
Gene Tree for SLC30A10 (if available)
TreeFam:
Gene Tree for SLC30A10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC30A10: view image

Paralogs for SLC30A10 Gene

Paralogs for SLC30A10 Gene

(2) SIMAP similar genes for SLC30A10 Gene using alignment to 3 proteins:

  • ZNT10_HUMAN
  • B3KR19_HUMAN
  • Q1RMY7_HUMAN

Pseudogenes.org Pseudogenes for SLC30A10 Gene

genes like me logo Genes that share paralogs with SLC30A10: view

Variants for SLC30A10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC30A10 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
744342 Likely Benign: not provided 219,918,457(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
800062 Likely Benign: not provided 219,915,683(-) G/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
873930 Uncertain Significance: Hypermanganesemia with dystonia 1 219,914,602(-) C/T NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
873931 Uncertain Significance: Hypermanganesemia with dystonia 1 219,914,819(-) C/T NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
873932 Uncertain Significance: Hypermanganesemia with dystonia 1 219,914,983(-) T/A NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for SLC30A10 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC30A10 Gene

Variant ID Type Subtype PubMed ID
esv3575695 CNV gain 25503493

Variation tolerance for SLC30A10 Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC30A10 Gene

Human Gene Mutation Database (HGMD)
SLC30A10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC30A10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC30A10 Gene

Disorders for SLC30A10 Gene

MalaCards: The human disease database

(17) MalaCards diseases for SLC30A10 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypermanganesemia with dystonia 1
  • hmndyt1
hypermanganesemia with dystonia
  • familial manganese-induced neurotoxicity
polycythemia
  • polycythemia vera
dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZNT10_HUMAN
  • Hypermanganesemia with dystonia 1 (HMNDYT1) [MIM:613280]: A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis. {ECO:0000269 PubMed:22341971, ECO:0000269 PubMed:22341972, ECO:0000269 PubMed:25319704}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC30A10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC30A10: view

No data available for Genatlas for SLC30A10 Gene

Publications for SLC30A10 Gene

  1. In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression. (PMID: 15154973) Seve M … Favier A (BMC genomics 2004) 2 3 4 23
  2. Differential Targeting of SLC30A10/ZnT10 Heterodimers to Endolysosomal Compartments Modulates EGF-Induced MEK/ERK1/2 Activity. (PMID: 26728129) Zhao Y … Salazar G (Traffic (Copenhagen, Denmark) 2016) 3 4
  3. Structural Elements in the Transmembrane and Cytoplasmic Domains of the Metal Transporter SLC30A10 Are Required for Its Manganese Efflux Activity. (PMID: 27307044) Zogzas CE … Mukhopadhyay S (The Journal of biological chemistry 2016) 3 4
  4. SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity. (PMID: 25319704) Leyva-Illades D … Mukhopadhyay S (The Journal of neuroscience : the official journal of the Society for Neuroscience 2014) 3 4
  5. Efflux function, tissue-specific expression and intracellular trafficking of the Zn transporter ZnT10 indicate roles in adult Zn homeostasis. (PMID: 22706290) Bosomworth HJ … Valentine RA (Metallomics : integrated biometal science 2012) 3 4

Products for SLC30A10 Gene

  • Biorbyt antibodies for SLC30A10
  • Signalway ELISA kits for SLC30A10

Sources for SLC30A10 Gene