CFHR3

GENE INFORMATION

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Gene name

CFHR3 (HGNC Symbol)

Synonyms

CFHL3, DOWN16, FHR-3, FHR3, HLF4

Description

Complement factor H-related 3 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Chromosome

1

Cytoband

q31.3

Chromosome location (bp)

196743925 - 196763203

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116785 (version 75.37)

Entrez gene

10878

UniProt

Q02985 (UniProt - Evidence at protein level)

neXtProt

NX_Q02985

Antibodypedia

CFHR3 antibodies
 

PROTEIN VIEW

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CFHR3-001
 
CFHR3-003
 
CFHR3-005
 
CFHR3-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CFHR3-001 ENSP00000356395
ENST00000367425
Q02985
Show all »
Show » Show » 330 37.3 Yes 0
CFHR3-003 ENSP00000356397
ENST00000367427
Q6NSD3
Show all »
Show » 232 26.1 Yes 0
CFHR3-005 ENSP00000436258
ENST00000471440
Q6NSD3
Show all »
Show » 232 26.1 Yes 0
CFHR3-006 ENSP00000375845
ENST00000391985
Q02985
Show all »
Show » Show » 269 30.7 Yes 0