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2176 FANCC

2176

FANCC

FA complementation group C

protein-coding

Homo sapiens

基因描述

Type Description
Definition FA complementation group C

研究结论

Date Results Publications
2020-11-21 13:15:00 Two truncating variants in FANCC and breast cancer risk. 31467304
2019-10-05 11:56:00 This study showed that featured-metabolic alterations are readouts of functional mechanisms underlying reduced tumorigenicity driven by FANCC, demonstrating close links among cancer, aging, inflammation and DM. 29930218
2019-07-20 11:02:00 The splice-site mutation in the FANCC gene (IVS4+4A>T) accounts for most cases of Fanconi anaemia in Ashkenazi Jewish cohorts worldwide.A founder mutation described in individuals of Ashkenazi Jewish ancestry is also found in South African individuals of this origin. 29843852
2018-12-29 10:47:00 mutation IVS4+4A>T is the most prevalent mutation in our group of patients. This analysis of Pakistani patients also suggests that there is no significant difference between IVS4+4A>T homozygotes and the rest of the patients with regard to severity of clinical phenotype. 28425259
2018-11-03 10:08:00 The finding that FANCC overexpression reduced betacell apoptosis advances the potential for an alternative approach to the treatment of Diabetes mellitus caused by FANCC defects 29901137

名称对应

Type IDs
Synonymous FA3, FAC, FACC
Gene
UniProtKB-ID: FANCC_HUMAN, B4E3W2_HUMAN, A0A087WW44_HUMAN, A0A024R9N2_HUMAN
UniprotKB: Q00597, B4E3W2, A0A087WW44, A0A024R9N2
UniParc: UPI00022332F6, UPI000000D910, UPI000007058F
EMBL: L02652, L02662, L02663, L02656, AK304887, L02653, L02660, X66894, L02657, L02654, AL446023, AL161729, L02651, L02659, KU178051, L02655, L02658, L02664, AY220878, BC015748, AL157384, AL354893, X66893, CH471174, L02661
Ensembl: ENSG00000158169
KO: hsa:2176
Nucleutide sequences
EMBL-CDS: EAW92626.1, AAH15748.1, CAA47347.1, AAA53104.1, AAO26042.1, CAA47348.1, BAG65624.1, EAW92627.1, EAW92628.1, ALQ33509.1, EAW92629.1
Gene_ORFName: hCG_32888
Ensembl_TRS: ENST00000375305, ENST00000289081, ENST00000474949, ENST00000649519, ENST00000490972
Protein sequencees
Ensembl_PRO: ENSP00000289081, ENSP00000364454, ENSP00000497729, ENSP00000497630, ENSP00000479931
RefSeq: NP_000127.2, XP_016869943.1, NP_001230673.1, XP_016869941.1, NP_001230672.1, XP_011516669.1, XP_005251859.1, XP_024303219.1, XP_006717067.1, XP_011516668.1, XP_006717065.1, XP_006717064.1, XP_011516667.1, XP_016869942.1
Others
UniRef100: UniRef100_Q00597, UniRef100_A0A087WW44
UniRef90: UniRef90_Q00597, UniRef90_A0A2K6SKN1
UniRef50: UniRef50_Q00597, UniRef50_A0A286Y2U6
UniGene: Hs.494529
CCDS: CCDS35071.1

全选

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