TSPEAR
entrez
54084
canonical
uniprot
Q8WU66
canonical
ensembl
ENSG00000175894
resolver
ensp
ENSP00000321987
resolver
genesymbol
TSPEAR
resolver
genesymbol_syn
C21orf29
resolver
hgnc
HGNC:1268
resolver
uniprot_entry
TSEAR_HUMAN
resolver
amino_acid_sequence
MSALLSLCFVLPLAAPGHGTQGWEPCTDLRPLDILAEVVPSDGATSGIRIVQVHGARGLQLSVAAPRTMSFPASRIFSQCDLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFRSPALVDGRWHTLVLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPRLCPSRNAPLAVLSIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGNEWVSVLAAKERLDYVEEHQNLSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAVANFEPDEKGQEFSVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNPATRLFEANQTIATSGAYDWEFFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFLAVANSHSYDVEMQVQNDSYVINSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYEGFVAVHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPLSRVLRLRTR
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 98 (DFNB98) [MIM:614861]: 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. {ECO:0000269|PubMed:22678063, ECO:0000269|PubMed:34042254}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ectodermal dysplasia 14, hypohidrotic/hair/tooth/nail type (ECTD14) [MIM:618180]: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures such as teeth, hair, nails and sweat glands. ECTD14 is an autosomal recessive form characterized by scalp hypotrichosis, hypodontia, conical teeth, and variable facial dysmorphism. Some patients have dystrophic nails and decreased sweating. {ECO:0000269|PubMed:27736875, ECO:0000269|PubMed:34042254}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Tooth agenesis, selective, 10 (STHAG10) [MIM:620173]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG10 inheritance is autosomal recessive. {ECO:0000269|PubMed:30046887, ECO:0000269|PubMed:32112661, ECO:0000269|PubMed:34042254}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063). {ECO:0000269|PubMed:22678063, ECO:0000269|PubMed:27736875}.
uniprot
proteins
mass_dalton
74924
uniprot
proteins
pubmed
12095917
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
22678063
uniprot
proteins
pubmed
27736875
uniprot
proteins
pubmed
30046887
uniprot
proteins
pubmed
32112661
uniprot
proteins
pubmed
34042254
uniprot
proteins
sequence_length
669
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:J3S6Y1}. Cell surface {ECO:0000250|UniProtKB:J3S6Y1}. Cell projection, stereocilium {ECO:0000250|UniProtKB:J3S6Y1}. Note=Secreted protein which may bind to the cell surface via a membrane receptor. {ECO:0000250|UniProtKB:J3S6Y1}.
uniprot
proteins