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
complement factor H-related 3
complement factor H-related 3
complement factor H-related 3
complement factor H-related 3
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
Innate Immune System pathway
Immune System pathway
Regulation of Complement cascade pathway
Complement cascade pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q02985
TrEMBL
UniProt Splice Variant
Entrez Gene 10878
UniGene Hs.709217
RefSeq NM_001166624 NM_021023
HUGO HGNC:16980
OMIM 605336
CCDS CCDS53453 CCDS30958
HPRD 05626
IMGT
EMBL AK298459 AL049741 BC058009 X68679
GenPept AAH58009 BAG60672 CAA48639 CAB53064
RNA Seq Atlas 10878