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147138 TMC8

147138

TMC8

transmembrane channel like 8

protein-coding

Homo sapiens

基因描述

Type Description
Definition transmembrane channel like 8

研究结论

Date Results Publications
2021-03-13 13:18:00 Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components. 32917726
2019-09-07 10:14:00 these findings suggest that the disruption of CIB1-EVER1-EVER2-dependent keratinocyte-intrinsic immunity underlies the selective susceptibility to beta-HPVs of epidermodysplasia verruciformis patients. 30068544
2018-06-23 10:58:00 The relatively high proportion of EV patients without mutation in TMC6/8 indicates the existence of EV-causing mutations in additional, presently unknown gene(s). However, a homozygous TMC8 splice site mutation in our patients resulted in aberrant transcripts which cannot retain the healthy phenotype 28646613
2017-09-30 11:54:00 The present study did not show any significant association of the EVER1/2 polymorphisms (rs2290907and rs16970849) with cervical cancer. 27899077
2017-02-18 10:26:00 There were no differences in Ever2 SNPs between head and neck squamous cell carcinoma patients with human papilloma virus (HPV)-positive and HPV-negative tumors, and healthy controls. 27097911

名称对应

Type IDs
Synonymous EV2, EVER2, EVIN2
Gene
UniProtKB-ID: TMC8_HUMAN, B3KXZ8_HUMAN, A0A024R8N8_HUMAN
UniprotKB: Q8IU68, B3KXZ8, A0A024R8N8
UniParc: UPI00004A294E, UPI00000747D3, UPI0000074471
EMBL: CH471099, AC021593, AK090478, BC110296, BC028076, AY057380, AY099359, AY236500, AY099358, AK128327
Ensembl: ENSG00000167895
KO: hsa:147138
Nucleutide sequences
EMBL-CDS: AAL25837.1, AAI10297.1, BAC03459.1, AAP69878.1, AAM44454.1, AAM44455.1, BAG54660.1, EAW89497.1, EAW89494.1
Gene_ORFName: hCG_2033776
Ensembl_TRS: ENST00000318430, ENST00000589691
Protein sequencees
Ensembl_PRO: ENSP00000325561, ENSP00000467482
RefSeq: XP_016879733.1, XP_024306388.1, XP_024306389.1, XP_024306390.1, XP_024306385.1, XP_016879732.1, XP_024306392.1, XP_024306395.1, NP_689681.2, XP_024306393.1, XP_016879731.1, XP_024306391.1, XP_024306386.1, XP_024306394.1, XP_024306387.1
Others
UniRef100: UniRef100_B3KXZ8, UniRef100_Q8IU68
UniRef90: UniRef90_A0A0D9QYR8, UniRef90_Q8IU68
UniRef50: UniRef50_Q8IU68
UniGene: Hs.592102
CCDS: CCDS32749.1

全选

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