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54084 TSPEAR

54084

TSPEAR

thrombospondin type laminin G domain and EAR repeats

protein-coding

Homo sapiens

基因描述

Type Description
Definition thrombospondin type laminin G domain and EAR repeats

研究结论

Date Results Publications
2021-04-17 13:38:00 Novel TSPEAR mutations in non-syndromic oligodontia. 32112661
2018-09-29 10:38:00 TSPEAR mutation is associated with tooth agenesis. 30046887
2017-05-13 16:06:00 using a luciferase-based reporter assay, we showed that TSPEAR knock-down is associated with decreased Notch signaling. In addition, NOTCH1 protein expression was reduced in patient scalp skin. Moreover, TSPEAR silencing in mouse hair follicle organ cultures was found to induce apoptosis in follicular epithelial cells, resulting in decreased hair bulb diameter 27736875
2017-03-22 10:11:00 TSPEAR expression is significantly downregulated in human masticatory mucosa during wound healing 28005267
2012-12-22 11:43:00 TSPEAR, cause disorders with auditory features: epilepsy, which can include auditory features in humans; audiogenic seizures in animals; and/or hearing impairments in humans and mice. 22678063

名称对应

Type IDs
Synonymous C21orf29, DFNB98, ECTD14, TSP-EAR
Gene
UniProtKB-ID: TSEAR_HUMAN
UniprotKB: Q8WU66
UniParc: UPI000002B65A, UPI0000137746
EMBL: AJ487962, BC021197
Ensembl: ENSG00000175894
KO: hsa:54084
Nucleutide sequences
EMBL-CDS: CAD32309.1, AAH21197.2
Ensembl_TRS: ENST00000323084
Protein sequencees
Ensembl_PRO: ENSP00000321987
RefSeq: NP_659428.2, NP_001258966.1
Others
UniRef100: UniRef100_Q8WU66
UniRef90: UniRef90_Q8WU66
UniRef50: UniRef50_Q8WU66
UniGene: Hs.660703
CCDS: CCDS13712.1

全选

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