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26115 TANC2

26115

TANC2

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

研究结论

Date Results Publications
2020-01-18 11:16:00 Pediatric patients with disruptive TANC2 mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. 31616000
2014-05-17 10:15:00 -RAD21 and EIF3H, both on chromosome 8q23, CHRAC1 on chromosome 8q24.3 and TANC2 on chromosome 17q23-were confirmed to be driver genes regulating the proliferation/survival of clonogenic breast cancer cells 24148822
2012-04-26 16:08:00 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. 22360420

名称对应

Type IDs
Synonymous ROLSA, rols
Gene
UniProtKB-ID: TANC2_HUMAN
UniprotKB: Q9HCD6
UniParc: UPI00015D57DF, UPI000173AA3A, UPI000173AA3B, UPI000173AA39
EMBL: AK021886, AC005828, AJ278120, AB046856, AK001077, AC015923, AC005972, AC006270, AB032974
Ensembl: ENSG00000170921
KO: hsa:26115
Nucleutide sequences
EMBL-CDS: BAB13462.2, CAB92314.1, BAA86462.2
Ensembl_TRS: ENST00000424789, ENST00000389520
Protein sequencees
Ensembl_PRO: ENSP00000374171, ENSP00000387593
RefSeq: XP_011522904.1, XP_016879919.1, XP_006721874.1, XP_011522901.1, NP_079461.2, XP_016879920.1, XP_006721870.1, XP_011522899.1, XP_011522902.1, XP_006721869.1, XP_011522903.1, XP_006721873.1, XP_016879918.1, XP_011522900.1
Others
UniRef100: UniRef100_Q9HCD6
UniRef90: UniRef90_Q9HCD6
UniRef50: UniRef50_Q9HCD6
UniGene: Hs.410889
CCDS: CCDS45754.1

全选

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研究热度

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