Version 5.4
Homo sapiens Protein: FANCB
Summary
InnateDB Protein IDBP-233302.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FANCB
Protein Name Fanconi anemia, complementation group B
Synonyms FA2; FAAP90; FAAP95; FAB; FACB;
Species Homo sapiens
Ensembl Protein ENSP00000381378
InnateDB Gene IDBG-45687 (FANCB)
Protein Structure
UniProt Annotation
Function DNA repair protein required for FANCD2 ubiquitination. {ECO:0000269PubMed:15502827}.
Subcellular Localization Nucleus {ECO:0000269PubMed:15502827}.
Disease Associations Fanconi anemia complementation group B (FANCB) [MIM:300514]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus. {ECO:0000269PubMed:16679491}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006281 DNA repair
Cellular Component
GO:0005654 nucleoplasm
GO:0043240 Fanconi anaemia nuclear complex
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8NB91
PhosphoSite PhosphoSite-Q8NB91
TrEMBL C9J5X9
UniProt Splice Variant
Entrez Gene 2187
UniGene Hs.554740
RefSeq NP_001018123
HUGO HGNC:3583
OMIM 300515
CCDS CCDS14161
HPRD 06557
IMGT
EMBL AC140846 AK091383 BC043596 BC055411 BC136558 BC136560 CH471074
GenPept AAH43596 AAH55411 AAI36559 AAI36561 BAC03650 EAW98861 EAW98862 EAW98863

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca