ENSG00000179520


Homo sapiens

Features
Gene ID: ENSG00000179520
  
Biological name :SLC17A8
  
Synonyms : Q8NDX2 / SLC17A8 / solute carrier family 17 member 8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q23.1
Gene start: 100357079
Gene end: 100422059
  
Corresponding Affymetrix probe sets: 1553415_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000316909
Ensembl peptide - ENSP00000376715
NCBI entrez gene - 246213     See in Manteia.
OMIM - 607557
RefSeq - NM_001145288
RefSeq - NM_139319
RefSeq Peptide - NP_001138760
RefSeq Peptide - NP_647480
swissprot - Q8NDX2
Ensembl - ENSG00000179520
  
Related genetic diseases (OMIM): 605583 - Deafness, autosomal dominant 25, 605583
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
 Q1L8X9ENSDARG00000057728Danio rerio
 SLC17A8ENSGALG00000041122Gallus gallus
 Q8BFU8ENSMUSG00000019935Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9P2U8 / SLC17A6 / solute carrier family 17 member 6ENSG0000009166472
Q9P2U7 / SLC17A7 / solute carrier family 17 member 7ENSG0000010488870
Q9NRA2 / SLC17A5 / solute carrier family 17 member 5ENSG0000011989932
Q9Y2C5 / SLC17A4 / solute carrier family 17 member 4ENSG0000014603927
O00624 / SLC17A2 / solute carrier family 17 member 2ENSG0000011233726
O00476 / SLC17A3 / solute carrier family 17 member 3ENSG0000012456425
Q14916 / SLC17A1 / solute carrier family 17 member 1ENSG0000012456824
Q9BYT1 / SLC17A9 / solute carrier family 17 member 9ENSG0000010119419


Protein motifs (from Interpro)
Interpro ID Name
 IPR011701  Major facilitator superfamily
 IPR020846  Major facilitator superfamily domain
 IPR036259  MFS transporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003407 neural retina development IEA
 biological_processGO:0006811 ion transport TAS
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0006836 neurotransmitter transport IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0015813 L-glutamate transmembrane transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0090102 cochlea development IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005771 multivesicular body IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IBA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0030672 synaptic vesicle membrane TAS
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043204 perikaryon IEA
 cellular_componentGO:0043679 axon terminus IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0060076 excitatory synapse IEA
 cellular_componentGO:0097440 apical dendrite IEA
 cellular_componentGO:0097441 basal dendrite IEA
 cellular_componentGO:0097451 glial limiting end-foot IEA
 cellular_componentGO:1990030 pericellular basket IEA
 molecular_functionGO:0005313 L-glutamate transmembrane transporter activity TAS
 molecular_functionGO:0015293 symporter activity IEA


Pathways (from Reactome)
Pathway description
Organic anion transporters
Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)


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:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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