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3080 CFHR2

3080

CFHR2

complement factor H related 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition complement factor H related 2

研究结论

Date Results Publications
2018-02-03 10:11:00 Studies indicate an association between CFHR2-rs2986127 and acute anterior uveitis (AAU) diagnosis. 27306586
2016-06-16 11:45:00 Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR2] 27196323
2016-04-02 11:04:00 Studies indicate that complement factor H-related proteins (FHR1-5) may enhance complement activation, with important implications for the role of these proteins in disease. 25979655
2014-10-18 10:19:00 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479. 24333077
2014-07-12 10:52:00 Thus CFHR2 likely acts in concert with factor H, as CFHR2 inhibits convertases while simultaneously allowing factor H assisted degradation by factor I. 24260121

名称对应

Type IDs
Synonymous CFHL2, FHR2, HFL3
Gene
UniProtKB-ID: FHR2_HUMAN, A0A3B3IRW0_HUMAN, A0A3B3IS28_HUMAN
UniprotKB: P36980, A0A3B3IRW0, A0A3B3IS28
UniParc: UPI000012A73B, UPI000002A9AF, UPI000387D9BD, UPI00001B2155
EMBL: X86566, BC022283, X86565, X64877, AL139418, X86564, X86567
Ensembl: ENSG00000080910
KO: hsa:3080
Nucleutide sequences
EMBL-CDS: CAA60375.1, AAH22283.1, CAA46096.1
Ensembl_TRS: ENST00000367415, ENST00000496448, ENST00000473386
Protein sequencees
Ensembl_PRO: ENSP00000356385, ENSP00000496889, ENSP00000497089
RefSeq: XP_011507761.1, NP_005657.1, XP_016856598.1, XP_011507760.1, XP_011507762.1, XP_005245170.1, NP_001299601.1
Others
UniRef100: UniRef100_A0A3B3IS28, UniRef100_A0A3B3IRW0, UniRef100_P36980
UniRef90: UniRef90_A0A3B3IRW0, UniRef90_A0A2I2Z920, UniRef90_P36980
UniRef50: UniRef50_P36980, UniRef50_A0A2I2Z920, UniRef50_Q7TP43
UniGene: Hs.632450
CCDS: CCDS30959.1

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