C7 Gene Summary [Human]

This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]

Details

Type
Protein Coding
Official Symbol
C7
Official Name
complement C7 [Source:HGNC Symbol;Acc:HGNC:1346]
Ensembl ID
ENSG00000112936
Bio databases IDs NCBI: 730 Ensembl: ENSG00000112936
Aliases complement C7
Synonyms A530026G17, complement C7, complement component 7, Gm1238, LOC103694886
Species
Human, Homo sapiens
OrthologiesMouseRat

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 C7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Thrombospondin type 1 repeats
  • CCP
  • Kazal-type serine protease inhibitor domain
  • membrane-attack complex / perforin
  • MAC/Perforin domain
  • factor I membrane attack complex
  • LDLa
  • Sushi repeat (SCR repeat)
  • SUSHI repeat

Pathways

Biological processes and signaling networks where the C7 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • non-small cell lung cancer
  • small cell lung cancer
  • complement component 7 deficiency
  • epithelial cancer
  • prostate cancer
  • diabetic nephropathy
  • Alzheimer disease
  • hepatocellular carcinoma
  • liver cancer
  • colon cancer
regulated by
  • Immunoglobulin
  • C5 CONVERTASE
  • TAFAZZIN
  • CDK4
  • AIM2
  • butyric acid
  • mir-223
  • CCND1
  • methotrexate
  • PIM1
role in cell
  • apoptosis
  • cell death
  • accumulation
  • egression
  • cytolysis

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
  • cell surface
  • cellular membrane
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human C7 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • complement activation
  • complement activation, alternative pathway
  • complement activation, classical pathway
  • killing of cells of other organism
  • positive regulation of immune response

Cellular Component

Where in the cell the gene product is active
  • membrane attack complex
  • extracellular space
  • extracellular vesicular exosome
  • extracellular region
  • plasma membrane

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.