FANCC Gene Summary [Human]

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
FANCC
Official Name
FA complementation group C [Source:HGNC Symbol;Acc:HGNC:3584]
Ensembl ID
ENSG00000158169
Bio databases IDs NCBI: 2176 Ensembl: ENSG00000158169
Aliases FA complementation group C
Synonyms FA3, FAC, FACC, FA complementation group C, Fanconi anaemia, complementation group C, Fanconi anemia, complementation group C, LOC103694020
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 FANCC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Fanconi anaemia group C protein
  • protein binding

Pathways

Biological processes and signaling networks where the FANCC 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
  • neoplasia
  • epithelial neoplasia
  • ovarian cancer
  • atrial fibrillation
  • Fanconi anemia, group C
  • Fanconi anemia
  • esophageal squamous cell carcinoma
  • esophageal squamous cell cancer
  • hereditary cancer-predisposing syndrome
  • cancer
regulated by
  • lipopolysaccharide
  • FANCG
  • Z-LLL-CHO
  • IFNGR1
  • adenosine triphosphate
  • IKK (complex)
  • GSK3B
  • FANCE
  • lactacystin
  • flavin mononucleotide
regulates
role in cell
  • cell death
  • apoptosis
  • cell viability
  • quantity
  • number
  • proliferation
  • expression in
  • survival
  • transcription in
  • growth

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • chromatin fraction
  • membrane fraction
  • Cytoplasm
  • cytosol
  • nuclear foci
  • nucleoplasm
  • nuclear matrix
  • chromatin
  • cytoplasmic fraction
  • cytosolic fraction

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • germ cell development
  • DNA repair
  • macromolecular complex assembly
  • removal of superoxide radicals
  • cellular response to oxidative stress
  • nucleotide-excision repair
  • myeloid cell homeostasis
  • brain morphogenesis
  • neuronal stem cell maintenance

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • Fanconi anaemia nuclear complex
  • cytoplasm
  • cytosol
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding

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.