ENSG00000175894


Homo sapiens

Features
Gene ID: ENSG00000175894
  
Biological name :TSPEAR
  
Synonyms : Q8WU66 / thrombospondin type laminin G domain and EAR repeats / TSPEAR
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: -1
Band: q22.3
Gene start: 44497892
Gene end: 44711580
  
Corresponding Affymetrix probe sets: 1552570_at (Human Genome U133 Plus 2.0 Array)   1555048_a_at (Human Genome U133 Plus 2.0 Array)   1555049_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000478010
Ensembl peptide - ENSP00000496535
Ensembl peptide - ENSP00000482422
Ensembl peptide - ENSP00000321987
NCBI entrez gene - 54084     See in Manteia.
OMIM - 612920
RefSeq - NM_001272037
RefSeq - NM_144991
RefSeq Peptide - NP_659428
RefSeq Peptide - NP_001258966
swissprot - Q8WU66
swissprot - Q14C60
swissprot - A0A087WZ72
Ensembl - ENSG00000175894
  
Related genetic diseases (OMIM): 614861 - ?Deafness, autosomal recessive 98, 614861
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
 tspearaENSDARG00000077580Danio rerio
 tspearbENSDARG00000089235Danio rerio
 TSPEARENSGALG00000005655Gallus gallus
 J3S6Y1ENSMUSG00000069581Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001791  Laminin G domain
 IPR005492  Leucine-rich glioma-inactivated , EPTP repeat
 IPR009039  EAR
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0032420 stereocilium ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060170 ciliary membrane IEA
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


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






 

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