CFH


Summary: 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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:134370
PHARMGKB IDPA29261
Map Location1q31.3

Gene Categories:

DRUGGABLE GENOME

GO terms in CFH


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IPI GO:0005515 protein binding
MF IDA GO:0008201 heparin binding
MF IDA GO:0043395 heparan sulfate proteoglycan binding
BP IDA GO:0006956 complement activation
BP IEA GO:0006957 complement activation, alternative pathway
BP IEA GO:0016032 viral process
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Gene expression in normal tissue: CFH

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 1

Gene-drug pathway distribution

ERK MAPK signaling1

Pathways in CFH


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Database
Pathway ID
Pathway Des.
reactome R-HSA-166658 Complement cascade
reactome R-HSA-168249 Innate Immune System
reactome R-HSA-168256 Immune System
reactome R-HSA-977606 Regulation of Complement cascade
kegg hsa04610 Complement and coagulation cascades - Homo sapiens (human)
kegg hsa05150 Staphylococcus aureus infection - Homo sapiens (human)
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD353 PD0325901 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CFH

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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