CFHR4 Gene Summary [Human]

This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]

Details

Type
Protein Coding
Official Symbol
CFHR4
Official Name
complement factor H related 4 [Source:HGNC Symbol;Acc:HGNC:16979]
Ensembl ID
ENSG00000134365
Bio databases IDs NCBI: 10877 Ensembl: ENSG00000134365
Aliases complement factor H related 4
Synonyms CFHL4, complement factor H related 4, FHR-4
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CFHR4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • lipid transporter
  • CCP
  • protein binding
  • Sushi repeat (SCR repeat)
  • SUSHI repeat
  • transporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • liver cancer
  • hepatocellular carcinoma
  • organismal death
  • maculopapular rash
  • diabetic peripheral neuropathy
  • nonalcoholic steatohepatitis
  • antiphospholipid syndrome
  • hepatitis B virus-related hepatocellular carcinoma
  • eczema
regulated by
  • beta-estradiol
  • LY294002

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CFHR4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • complement activation
  • lipid transport

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • complement component C3b binding
  • lipid transporter activity

Gene-Specific Assays for Results You Can Trust

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