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Gene : CFHR3 Homo sapiens

Name  ? complement factor H related 3 Cytological Location  1q31.3
Brief Description  complement factor H related 3
Description  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]
  • synonyms:
  • DOWN16,
  • uc001gtl.4,
  • OTTHUMG00000035929,
  • FHR3,
  • HGNC:16980,
  • HLF4,
  • X68679,
  • complement factor H-related 3,
  • CFHR3,
  • CFHL3,
  • CFHL3,
  • DOWN16,
  • FHR-3,
  • FHR-3,
  • FHR3,
  • HLF4,
  • NM_021023
  • identifiers:
  • 10878,
  • ENSG00000116785,
  • CFHR3

Genome feature

Region: gene ? Length: 20608  
Location: 1:196774800-196795407 Cyto location: 1q31.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

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

Gene Ontology

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Other

3753 SN Ps

5 Cross References

16 Data Sets

0 Homologues

0 Located Features

97 Rna Seq Results