ENSG00000158014


Homo sapiens

Features
Gene ID: ENSG00000158014
  
Biological name :SLC30A2
  
Synonyms : Q9BRI3 / SLC30A2 / solute carrier family 30 member 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p36.11
Gene start: 26037252
Gene end: 26046133
  
Corresponding Affymetrix probe sets: 224485_s_at (Human Genome U133 Plus 2.0 Array)   230084_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000363394
Ensembl peptide - ENSP00000363396
NCBI entrez gene - 7780     See in Manteia.
OMIM - 609617
RefSeq - NM_001004434
RefSeq - NM_032513
RefSeq Peptide - NP_001004434
RefSeq Peptide - NP_115902
swissprot - Q9BRI3
Ensembl - ENSG00000158014
  
Related genetic diseases (OMIM): 608118 - Zinc deficiency, transient neonatal, 608118
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 SLC30A2ENSGALG00000010375Gallus gallus
 Q2HJ10ENSMUSG00000028836Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q99726 / SLC30A3 / solute carrier family 30 member 3ENSG0000011519451
Q8IWU4 / SLC30A8 / solute carrier family 30 member 8ENSG0000016475648
O14863 / SLC30A4 / solute carrier family 30 member 4ENSG0000010415438
Q9Y6M5 / SLC30A1 / solute carrier family 30 member 1ENSG0000017038525
Q6XR72 / SLC30A10 / solute carrier family 30 member 10ENSG0000019666021


Protein motifs (from Interpro)
Interpro ID Name
 IPR002524  Cation efflux protein
 IPR027469  Cation efflux transmembrane domain superfamily
 IPR036837  Cation efflux protein, cytoplasmic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006812 cation transport IEA
 biological_processGO:0006829 zinc ion transport IEA
 biological_processGO:0010043 response to zinc ion IBA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0061090 positive regulation of sequestering of zinc ion IDA
 biological_processGO:0071577 zinc ion transmembrane transport IEA
 biological_processGO:0098655 cation transmembrane transport IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005770 late endosome IDA
 cellular_componentGO:0005773 vacuole IEA
 cellular_componentGO:0005774 vacuolar membrane IEA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0005385 zinc ion transmembrane transporter activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008324 cation transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
Zinc efflux and compartmentalization by the SLC30 family


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000951 Abnormality of the skin "An abnormality of the `skin` (FMA:7163)." [HPO:probinson]
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 HP:0000964 Eczema "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators]
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 HP:0002242 Abnormality of the intestines 
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 HP:0008277 Abnormal zinc metabolism 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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