Entity Details

Primary name TSPEAR
Entity type gene
Source Source Link

Details

PrimaryID54084
RefseqGeneNG_033806
SymbolTSPEAR
Namethrombospondin type laminin G domain and EAR repeats
Chromosome21
Location21q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTSEAR_HUMAN

GO terms

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GOName
GO:0005576 extracellular region
GO:0007165 signal transduction
GO:0007219 Notch signaling pathway
GO:0007605 sensory perception of sound
GO:0008593 regulation of Notch signaling pathway
GO:0009986 cell surface
GO:0022405 hair cycle process
GO:0032420 stereocilium
GO:0034505 tooth mineralization
GO:0060170 ciliary membrane

Diseases

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Disease IDSourceNameDescription
614861 OMIMDeafness, autosomal recessive, 98 (DFNB98)A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.
618180 OMIMEctodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14)A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD14 is an autosomal recessive form characterized by scalp hypotrichosis, hypodontia, and mild facial dysmorphism. Some patients have decreased sweating. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
TSPEARTRIM54BioGRID31391242 details