ENSG00000184564


Homo sapiens

Features
Gene ID: ENSG00000184564
  
Biological name :SLITRK6
  
Synonyms : Q9H5Y7 / SLIT and NTRK like family member 6 / SLITRK6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: -1
Band: q31.1
Gene start: 85792787
Gene end: 85806683
  
Corresponding Affymetrix probe sets: 232176_at (Human Genome U133 Plus 2.0 Array)   232481_s_at (Human Genome U133 Plus 2.0 Array)   235976_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496428
Ensembl peptide - ENSP00000383143
Ensembl peptide - ENSP00000495507
NCBI entrez gene - 84189     See in Manteia.
OMIM - 609681
RefSeq - NM_032229
RefSeq Peptide - NP_115605
swissprot - Q9H5Y7
Ensembl - ENSG00000184564
  
Related genetic diseases (OMIM): 221200 - Deafness and myopia, 221200
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
 slitrk6ENSDARG00000098769Danio rerio
 SLITRK6ENSGALG00000016904Gallus gallus
 Q8C110ENSMUSG00000045871Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O94991 / SLITRK5 / SLIT and NTRK like family member 5ENSG0000016530041
Q8IW52 / SLITRK4 / SLIT and NTRK like family member 4ENSG0000017954240
O96002 / Q9H156 / SLITRK2 / SLIT and NTRK like family member 2ENSG0000018598540
O94933 / SLITRK3 / SLIT and NTRK like family member 3ENSG0000012187139
Q96PX8 / SLITRK1 / SLIT and NTRK like family member 1ENSG0000017823531
ELFN1 / P0C7U0 / extracellular leucine rich repeat and fibronectin type III domain containing 1ENSG0000022596814
ELFN2 / Q5R3F8 / extracellular leucine rich repeat and fibronectin type III domain containing 2ENSG0000016689714
LRRC19 / Q9H756 / leucine rich repeat containing 19ENSG0000018443410


Protein motifs (from Interpro)
Interpro ID Name
 IPR000483  Cysteine-rich flanking region, C-terminal
 IPR001611  Leucine-rich repeat
 IPR003591  Leucine-rich repeat, typical subtype
 IPR032675  Leucine-rich repeat domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001964 startle response IEA
 biological_processGO:0002088 lens development in camera-type eye IEA
 biological_processGO:0002093 auditory receptor cell morphogenesis IEA
 biological_processGO:0007409 axonogenesis IEA
 biological_processGO:0007416 synapse assembly IMP
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0008344 adult locomotory behavior IEA
 biological_processGO:0021562 vestibulocochlear nerve development IEA
 biological_processGO:0031223 auditory behavior IEA
 biological_processGO:0035264 multicellular organism growth IEA
 biological_processGO:0042472 inner ear morphogenesis IEA
 biological_processGO:0043010 camera-type eye development IEA
 biological_processGO:0048812 neuron projection morphogenesis IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0051965 positive regulation of synapse assembly IEA
 biological_processGO:0060005 vestibular reflex IEA
 biological_processGO:0060007 linear vestibuloocular reflex IEA
 biological_processGO:0060384 innervation IEA
 biological_processGO:0090102 cochlea development IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0071944 cell periphery IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Receptor-type tyrosine-protein phosphatases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000093 Proteinuria 
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 HP:0000405 Hearing loss, conductive 
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0011003 Severe Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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