help  | about  | cite  | software

Gene : CFH Homo sapiens

Name  ? complement factor H Cytological Location  1q31.3
Brief Description  complement factor H
Description  This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
  • synonyms:
  • HF,
  • Y00716,
  • OTTHUMG00000035607,
  • AHUS1,
  • FH,
  • ARMS1,
  • NM_000186,
  • HF,
  • H factor 2 (complement),
  • ARMD4,
  • HF1,
  • CFH,
  • HUS,
  • CFHL3,
  • AMBP1,
  • H factor 1 (complement),
  • HF1,
  • ARMS1,
  • HGNC:4883,
  • HF2,
  • uc001gtj.4,
  • age-related maculopathy susceptibility 1,
  • ARMD4,
  • HF2,
  • FHL1,
  • beta-1H,
  • FHL1,
  • HUS
  • identifiers:
  • 3075,
  • ENSG00000000971,
  • CFH

Genome feature

Region: gene ? Length: 95472  
Location: 1:196652033-196747504 Cyto location: 1q31.3

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SNPs

5 Cross References

19 Data Sets

6 Homologues

4 Located Features

97 Rna Seq Results