FANCB Gene Summary [Human]

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]

Details

Type
Nonsense Mediated Decay
Official Symbol
FANCB
Official Name
FA complementation group B [Source:HGNC Symbol;Acc:HGNC:3583]
Ensembl ID
ENSG00000181544
Bio databases IDs NCBI: 2187 Ensembl: ENSG00000181544
Aliases FA complementation group B
Synonyms FA2, FAAP90, FAAP95, FAB, FACB, FA complementation group B, Fanconi anaemia, complementation group B, Fanconi anemia, complementation group B, FLJ34064, RGD1561555
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 FANCB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding

Pathways

Biological processes and signaling networks where the FANCB 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
  • group B Fanconi anemia
  • Fanconi anemia
  • preeclampsia
regulated by
role in cell
  • differentiation
  • response by
  • cell survival

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
  • cytosol
  • nucleoplasm
  • chromatin

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of double-strand break repair via homologous recombination

Cellular Component

Where in the cell the gene product is active
  • Fanconi anaemia nuclear complex
  • 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.