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54970 TTC12

54970

TTC12

tetratricopeptide repeat domain 12

protein-coding

Homo sapiens

基因描述

Type Description
Definition tetratricopeptide repeat domain 12

研究结论

Date Results Publications
2020-04-18 10:18:00 TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. 31978331
2019-06-08 13:21:00 Meta-analysis found that the minor G-allele of rs2236709, mapping TTC12, was associated with self-reported smoking and higher plasma cotinine levels. This risk allele was linked to an increased ventral-striatal blood-oxygen level-dependent response during reward anticipation and with higher DRD2 gene expression in the striatum, but not with TTC12 or ANKK gene expression. 30104163
2013-05-04 11:43:00 TTC12 SNP rs7130431 was associated with heroin dependence. 23303482
2011-07-02 10:19:00 TTC12-ANKK1-DRD2s seemed to influence smoking behavior mainly in adolescence, and its effect is partially mediated by personality characteristics promoting drug-seeking behavior. 21168125
2010-06-30 22:07:00 Observational study of gene-disease association. (HuGE Navigator) 20133381

名称对应

Type IDs
Synonymous TPARM
Gene
UniProtKB-ID: TTC12_HUMAN, Q53G14_HUMAN, A8K8G6_HUMAN, J3KR69_HUMAN
UniprotKB: Q9H892, Q53G14, A8K8G6, J3KR69
UniParc: UPI0000EE39B4, UPI000036FFF6, UPI000013F914, UPI000013F906
EMBL: AP000880, EF445041, AP002840, AK023921, BC032355, AK223117, AK292331, CH471065, AK000542
Ensembl: ENSG00000149292
KO: hsa:54970
Nucleutide sequences
EMBL-CDS: AAH32355.1, BAB14725.1, BAA91242.1, BAD96837.1, BAF85020.1, EAW67214.1, ACA06093.1, EAW67213.1
Gene_ORFName: hCG_2043014, hCG_2043014
Ensembl_TRS: ENST00000494714, ENST00000314756, ENST00000529221, ENST00000483239
Protein sequencees
Ensembl_PRO: ENSP00000315160, ENSP00000435291, ENSP00000433757, ENSP00000419652
RefSeq: XP_016873434.1, XP_016873432.1, NP_001338966.1, NP_001305462.1, XP_016873439.1, NP_060338.3, NP_001364993.1, XP_016873433.1, XP_005271661.1, XP_024304362.1, XP_016873436.1, NP_001364994.1, XP_016873437.1, NP_001364992.1, XP_016873435.1, XP_016873438.1, XP_024304364.1, XP_024304365.1
Others
UniRef100: UniRef100_Q9H892, UniRef100_Q53G14, UniRef100_J3KR69
UniRef90: UniRef90_Q9H892
UniRef50: UniRef50_Q9H892
UniGene: Hs.288772
CCDS: CCDS8360.2

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