Homo sapiens Gene: FANCB
Summary
InnateDB Gene IDBG-45687.4
Last Modified 2011-02-17 [Report errors or provide feedback]
Gene Symbol FANCB
Gene Name Fanconi anemia, complementation group B
Synonyms FA2; FAAP90; FAAP95; FAB; FACB;
Species Homo sapiens
Ensembl Gene ENSG00000181544
Encoded Proteins
Fanconi anemia, complementation group B
Fanconi anemia, complementation group B
Fanconi anemia, complementation group B
Protein Structure
Entrez Gene
Summary 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 B. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:14861529-14891191
Strand Reverse strand
Band p22.2
Transcripts
ENST00000324138 ENSP00000326819
ENST00000398334 ENSP00000381378
ENST00000452869 ENSP00000397849
ENST00000489126
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated
Total 18 [view]
Protein-Protein 16 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006281 DNA repair
Cellular Component
GO:0005654 nucleoplasm
GO:0043240 Fanconi anaemia nuclear complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Fanconi Anemia pathway pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Fanconi anemia pathway
Cross-References
SwissProt Q8NB91
TrEMBL C9J5X9
UniProt Splice Variant
Entrez Gene 2187
UniGene Hs.554740
RefSeq NM_001018113 NM_152633
HUGO 3583
OMIM 300515
CCDS CCDS14161
HPRD 06557
IMGT
EMBL AC140846 AK091383 BC043596 BC055411 BC136558 BC136560 CH471074
GenPept AAH43596 AAH55411 AAI36559 AAI36561 BAC03650 EAW98861
ImmGen FANCB (murine)
RNA Seq Atlas 2187