Version 5.4
Homo sapiens Gene: CFHR3
Summary
InnateDB Gene IDBG-105511.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CFHR3
Gene Name complement factor H-related 3
Synonyms CFHL3; DOWN16; FHR-3; FHR3; HLF4
Species Homo sapiens
Ensembl Gene ENSG00000116785
Encoded Proteins
IDBP-105513
complement factor H-related 3
IDBP-105517
complement factor H-related 3
IDBP-246584
complement factor H-related 3
IDBP-593843
complement factor H-related 3
IDBP-813463
complement factor H-related 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:196774795-196795406
Strand Forward strand
Band q31.3
Transcripts
ENST00000367427 ENSP00000356397
ENST00000367425 ENSP00000356395
ENST00000391985 ENSP00000375845
ENST00000471440 ENSP00000436258
ENST00000461558
ENST00000617219 ENSP00000481905
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005615 extracellular space
GO:0072562 blood microparticle
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_118707
Regulation of Complement cascade pathway
REACT_6802
Innate Immune System pathway
REACT_6900
Immune System pathway
REACT_6932
Complement cascade pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.709217
RefSeq NM_001166624 NM_021023
HUGO
OMIM
CCDS CCDS30958 CCDS53453
HPRD 05626
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca