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29119 CTNNA3

29119

CTNNA3

catenin alpha 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition catenin alpha 3

研究结论

Date Results Publications
2019-03-16 13:08:00 G allele of rs7903491 in CTNNA3 is a risk factor for essential tremor in Chinese population. 28801652
2017-12-16 12:04:00 Double MYH7 CTTNA3 heterozygotes showed a variable clinical expression of arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. One carrier of double mutations in CTTNA3 and MYH7 genes did not fulfill the current diagnostic criteria for cardiomyopathy. 28699631
2017-09-23 12:43:00 The functional investigations might indicate involvement of alpha-T-catenin/CTNNA3 in the biology of peripheral nerve sheath tumors. 27765635
2017-05-13 22:07:00 CTNNA3 association with essential tremor. 27797806
2017-03-11 10:16:00 We conducted a meta-analysis of studies involving CHAT, TFAM, and VR22 polymorphisms and Alzheimer disease susceptibility. For TFAM and VR22, no significant association was detected in studied single-nucleotide polymorphisms (SNPs). Rs10997691 and rs7070570 of VR22 are not significantly associated with AD risk. 27272392

名称对应

Type IDs
Synonymous ARVD13, VR22
Gene
UniProtKB-ID: CTNA3_HUMAN, Q8WW10_HUMAN, A8K141_HUMAN
UniprotKB: Q9UI47, Q8WW10, A8K141
UniParc: UPI000004A0E6, UPI0000237C9F, UPI000006FBEF, UPI0000EE50DF
EMBL: AL731549, AF282685, BC065819, AF282686, AC016819, AF282687, AF091606, CH471083, AF282689, AF282692, AF391794, AF282682, AF282680, AC022401, AF282690, AF282681, AF391792, AK289756, AC026394, AC018979, AF282683, AL607022, AF282684, AF282691, AL607023, AF282688, BC030646, AC020642, AK313882, AC022017, AF282679, AF391793, BC022004, AL731538
Ensembl: ENSG00000183230
KO: hsa:29119
Nucleutide sequences
EMBL-CDS: AAH65819.1, AAF21801.1, AAQ14328.1, AAH22004.1, AAH30646.1, BAG36608.1, EAW54251.1, EAW54249.1, BAF82445.1
Gene_ORFName: hCG_1810899
Ensembl_TRS: ENST00000433211
Protein sequencees
Ensembl_PRO: ENSP00000389714
RefSeq: XP_016871645.1, XP_016871644.1, XP_016871642.1, XP_016871641.1, XP_016871646.1, NP_037398.2, XP_016871640.1, NP_001278062.1, NP_001120856.1, XP_016871643.1, XP_016871647.1
Others
UniRef100: UniRef100_A8K141, UniRef100_Q9UI47, UniRef100_Q8WW10
UniRef90: UniRef90_Q9UI47, UniRef90_F2Z2R0
UniRef50: UniRef50_Q9UI47, UniRef50_F2Z2R0
UniGene: Hs.660362
CCDS: CCDS7269.1

全选

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研究热度

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