CFHR2 (complement factor H related 2)

2014-11-01  

Identity

HGNC
LOCATION
1q31.3
LOCUSID
ALIAS
CFHL2,FHR2,HFL3

Other Information

Locus ID:

NCBI: 3080
MIM: 600889
HGNC: 4890
Ensembl: ENSG00000080910

Variants:

dbSNP: 3080
ClinVar: 3080
TCGA: ENSG00000080910
COSMIC: CFHR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080910ENST00000367415P36980
ENSG00000080910ENST00000367421A0A3B3IQ51
ENSG00000080910ENST00000473386A0A3B3IS28
ENSG00000080910ENST00000476712V9GYE7
ENSG00000080910ENST00000496448A0A3B3IRW0
ENSG00000080910ENST00000649283A0A3B3IS00
ENSG00000080910ENST00000649960A0A3B3ISW6

Expression (GTEx)

0
50
100
150
200
250
300

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
174386732006Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.87
243344592014Complement factor H-related hybrid protein deregulates complement in dense deposit disease.43
259796552015Factor H-related proteins determine complement-activating surfaces.39
185410312008The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.32
242601212013Human factor H-related protein 2 (CFHR2) regulates complement activation.29
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
200594702010Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.18
271963232016Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.4
243330772014Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.2
273065862016CFHR2-rs2986127 as a genetic protective marker for acute anterior uveitis in Chinese patients.1

Citation

Dessen P

CFHR2 (complement factor H related 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61771/cfhr2