Entity Details

Primary name TSEAR_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WU66
EntryNameTSEAR_HUMAN
FullNameThrombospondin-type laminin G domain and EAR repeat-containing protein
TaxID9606
Evidenceevidence at transcript level
Length669
SequenceStatuscomplete
DateCreated2002-11-28
DateModified2021-06-02

Ontological Relatives

GenesTSPEAR

GO terms

Show/Hide Table
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

Subcellular Location

Show/Hide Table
Subcellular Location
Cell projection
Cell surface
Secreted

Domains

Show/Hide Table
DomainNameCategoryType
IPR001791 Laminin G domainDomainDomain
IPR005492 Leucine-rich glioma-inactivated , EPTP repeatRepeatRepeat
IPR009039 EARRepeatRepeat
IPR013320 Concanavalin A-like lectin/glucanase domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
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
TSEAR_HUMANTRI54_HUMANBioGRID31391242 details