InnateDB Protein
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IDBP-45689.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FANCB
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Protein Name
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Fanconi anemia, complementation group B
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Synonyms
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FA2; FAAP90; FAAP95; FAB; FACB;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000326819
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InnateDB Gene
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IDBG-45687 (FANCB)
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Protein Structure
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Function |
DNA repair protein required for FANCD2 ubiquitination. {ECO:0000269PubMed:15502827}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:15502827}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
16
[view]
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Protein-Protein |
16
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NB91
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PhosphoSite |
PhosphoSite-Q8NB91
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TrEMBL |
C9J5X9
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UniProt Splice Variant |
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Entrez Gene |
2187
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UniGene |
Hs.554740
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RefSeq |
NP_689846
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HUGO |
HGNC:3583
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OMIM |
300515
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CCDS |
CCDS14161
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HPRD |
06557
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IMGT |
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EMBL |
AC140846
AK091383
BC043596
BC055411
BC136558
BC136560
CH471074
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GenPept |
AAH43596
AAH55411
AAI36559
AAI36561
BAC03650
EAW98861
EAW98862
EAW98863
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