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Gene : CFP Homo sapiens

Name  ? complement factor properdin Cytological Location  Xp11.23
Brief Description  complement factor properdin
Description  This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]
  • synonyms:
  • PFC,
  • CFP,
  • OTTHUMG00000021451,
  • PFD,
  • M83652,
  • BFD,
  • NM_002621,
  • HGNC:8864,
  • uc004dih.4,
  • PFC,
  • properdin P factor, complement,
  • PROPERDIN
  • identifiers:
  • 5199,
  • ENSG00000126759,
  • CFP

Genome feature

Region: gene ? Length: 7024  
Location: X:47623282-47630305 reverse strand Cyto location: Xp11.23


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Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

88 SN Ps

5 Cross References

17 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results