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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
External Ids for SLC30A10 Gene
- HGNC: 25355
- Entrez Gene: 55532
- Ensembl: ENSG00000196660
- OMIM: 611146
- UniProtKB: Q6XR72
Previous GeneCards Identifiers for SLC30A10 Gene
- GC01M216475
- GC01M218153
- GC01M219858
- GC01M190762
Summaries 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
- HGNC(25355)
- Entrez Gene(55532)
- Ensembl(ENSG00000196660)
- OMIM(611146)
- UniProtKB(Q6XR72)
- Open Targets Platform(ENSG00000196660)
- Monarch Initiative
- Search for SLC30A10 at DataMed
- Search for SLC30A10 at HumanCyc
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
- 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:
-
- 1q41 by HGNC
- 1q41 by Entrez Gene
- 1q41 by Ensembl
SLC30A10 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for SLC30A10 Gene
Post-translational modifications for SLC30A10 Gene
Other Protein References for SLC30A10 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-SLC30A10 (aa 313-458) polyclonal antibody
- Creative Biolabs Recombinant Anti-Human SLC30A10 Antibody
- Novus Biologicals Antibodies for SLC30A10
- Invitrogen Antibodies for SLC30A10 (AFLGC-SLC30A10)
-
Biorbyt antibodies for SLC30A10
- Sino Biological Antibodies for SLC30A10
Protein Products
-
OriGene Purified Proteins for SLC30A10
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC30A10
- Origene Custom Protein Services for SLC30A10
- Novus Biologicals proteins for SLC30A10
- antibodies-online: Show 6 available SLC30A10 Proteins ranked by validation data
- Compare Top SLC30A10 Proteins
-
Quality Products:
Assay Products
- antibodies-online: Show 12 available SLC30A10 Elisa Kits ranked by validation data
- Compare Top SLC30A10 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for SLC30A10
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
Q6XR72UniProtKB/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.
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
| 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 | -- |
Phenotypes for SLC30A10 Gene
- MGI mutant phenotypes for SLC30A10:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SLC30A10:
Animal Models for SLC30A10 Gene
- MGI Knock Outs for SLC30A10:
-
- Slc30a10 Slc30a10<tm1.1Sommu>
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC30A10
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC30A10 - Select products 50% OFF >
- * SLC30A10 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC30A10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC30A10
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC30A10
miRNA for SLC30A10 Gene
- miRTarBase miRNAs that target SLC30A10
-
- mmu-miR-758-3p (MIRT007484)
- mmu-miR-425-5p (MIRT008448)
- mmu-miR-24-3p (MIRT013756)
- mmu-miR-9-5p (MIRT015163)
- hsa-miR-26b-5p (MIRT030334)
- hsa-miR-1303 (MIRT446083)
- hsa-miR-526b-5p (MIRT446084)
- hsa-miR-4539 (MIRT446085)
- hsa-miR-4724-5p (MIRT446086)
- hsa-miR-5584-3p (MIRT446087)
- mmu-miR-466k (MIRT580939)
- mmu-miR-466l-5p (MIRT580940)
- mmu-miR-466i-5p (MIRT580941)
- mmu-miR-466d-5p (MIRT580942)
- hsa-miR-129-5p (MIRT639436)
- hsa-miR-3680-3p (MIRT639437)
- hsa-miR-557 (MIRT639438)
- hsa-miR-507 (MIRT639439)
- hsa-miR-450b-5p (MIRT639440)
- hsa-miR-6516-5p (MIRT639441)
- hsa-miR-455-3p (MIRT639442)
- hsa-miR-335-3p (MIRT717613)
- hsa-miR-6862-5p (MIRT717614)
- hsa-miR-4253 (MIRT717615)
- hsa-miR-3945 (MIRT717616)
- hsa-miR-4424 (MIRT717617)
- hsa-miR-6774-5p (MIRT717618)
- hsa-miR-635 (MIRT717619)
- hsa-miR-3189-3p (MIRT717620)
- hsa-miR-1827 (MIRT763117)
- hsa-miR-1910-3p (MIRT763344)
- hsa-miR-29a-3p (MIRT764376)
- hsa-miR-29b-3p (MIRT764387)
- hsa-miR-29c-3p (MIRT764392)
- hsa-miR-3612 (MIRT765952)
- hsa-miR-4327 (MIRT768685)
- hsa-miR-4459 (MIRT769349)
- hsa-miR-4537 (MIRT770202)
- hsa-miR-4695-5p (MIRT771233)
- hsa-miR-5682 (MIRT774945)
- hsa-miR-6499-3p (MIRT776370)
- hsa-miR-650 (MIRT776710)
- hsa-miR-6511a-5p (MIRT776843)
- hsa-miR-665 (MIRT777618)
- hsa-miR-6840-3p (MIRT780179)
- hsa-miR-6871-3p (MIRT780697)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC30A10
- Browse OriGene Inhibitory RNA Products For SLC30A10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC30A10
Clone Products
- Applied Biological Materials (abm): Clones for SLC30A10 - Select products 50% OFF >
- * SLC30A10 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC30A10
- Addgene plasmids for SLC30A10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter 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}.
| 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 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC30A10 Gene
Pathways & Interactions for SLC30A10 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metal ion SLC transporters |
.38
|
|
Pathways by source for SLC30A10 Gene
1 BioSystems pathway for SLC30A10 Gene
Interacting Proteins for SLC30A10 Gene
Selected Interacting proteins:
Q6XR72-ZNT10_HUMAN
ENSP00000355893
for SLC30A10 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SLC30A10
| 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 |
No data available for SIGNOR curated interactions for SLC30A10 Gene
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 :
-
- ENST00000356609 3650 nts (view in UCSC)
- ENST00000366926 6579 nts (view in UCSC)
- ENST00000484079 2461 nts (view in UCSC)
- ENST00000484239 1902 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC30A10 - Select products 50% OFF >
- * SLC30A10 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC30A10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC30A10
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC30A10
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC30A10
- Browse OriGene Inhibitory RNA Products For SLC30A10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC30A10
Clone Products
- Applied Biological Materials (abm): Clones for SLC30A10 - Select products 50% OFF >
- * SLC30A10 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC30A10
- Addgene plasmids for SLC30A10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC30A10
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for SLC30A10 Gene
This gene is overexpressed in Liver (x17.9).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC30A10
SOURCE GeneReport for Unigene cluster for SLC30A10 Gene:
Hs.284450mRNA 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
Primer Products
-
OriGene qPCR primer pairs for SLC30A10
Gene Expression Assay Products
Orthologs for SLC30A10 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC30A10 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC30A10 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc30a10 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc30a10 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SLC30A10 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC30A10 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC30A10 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC30A10 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC30A10 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc30a10 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15729 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc30a10 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG5130 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | cdf-1 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ZRC1 31 |
|
ManyToMany | |
| COT1 31 33 |
|
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
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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3575695 | CNV | gain | 25503493 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC30A10 Gene
Disorders for SLC30A10 Gene
(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 |
|
|
| hypermanganesemia with dystonia |
|
|
| polycythemia |
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| dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease |
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| dystonia |
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Search SLC30A10 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for SLC30A10 Gene
Publications for SLC30A10 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
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