FANCB
entrez
2187
canonical
uniprot
Q8NB91
canonical
ensembl
ENSG00000181544
resolver
ensp
ENSP00000326819
resolver
ensp
ENSP00000397849
resolver
ensp
ENSP00000498215
resolver
ensp
ENSP00000512550
resolver
ensp
ENSP00000512573
resolver
ensp
ENSP00000512574
resolver
ensp
ENSP00000512577
resolver
ensp
ENSP00000512578
resolver
ensp
ENSP00000751438
resolver
enst
ENST00000324138
resolver
enst
ENST00000452869
resolver
enst
ENST00000650831
resolver
enst
ENST00000696312
resolver
enst
ENST00000696352
resolver
enst
ENST00000696353
resolver
enst
ENST00000696356
resolver
enst
ENST00000696357
resolver
genesymbol
FANCB
resolver
hgnc
HGNC:3583
resolver
uniprot
A0A8Q3WL66
resolver
uniprot
B2RMZ4
resolver
uniprot
C9J5X9
resolver
uniprot
Q7Z2U2
resolver
uniprot
Q86XG1
resolver
uniprot_entry
A0A8Q3WL66_HUMAN
resolver
uniprot_entry
C9J5X9_HUMAN
resolver
uniprot_entry
FANCB_HUMAN
resolver
uniprot_sec
B2RMZ4
resolver
uniprot_sec
Q7Z2U2
resolver
uniprot_sec
Q86XG1
resolver
amino_acid_sequence
MTSKQAMSSNEQERLLCYNGEVLVFQLSKGNFADKEPTKTPILHVRRMVFDRGTKVFVQKSTGFFTIKEENSHLKIMCCNCVSDFRTGINLPYIVIEKNKKNNVFEYFLLILHSTNKFEMRLSFKLGYEMKDGLRVLNGPLILWRHVKAFFFISSQTGKVVSVSGNFSSIQWAGEIENLGMVLLGLKECCLSEEECTQEPSKSDYAIWNTKFCVYSLESQEVLSDIYIIPPAYSSVVTYVHICATEIIKNQLRISLIALTRKNQLISFQNGTPKNVCQLPFGDPCAVQLMDSGGGNLFFVVSFISNNACAVWKESFQVAAKWEKLSLVLIDDFIGSGTEQVLLLFKDSLNSDCLTSFKITDLGKINYSSEPSDCNEDDLFEDKQENRYLVVPPLETGLKVCFSSFRELRQHLLLKEKIISKSYKALINLVQGKDDNTSSAEEKECLVPLCGEEENSVHILDEKLSDNFQDSEQLVEKIWYRVIDDSLVVGVKTTSSLKLSLNDVTLSLLMDQAHDSRFRLLKCQNRVIKLSTNPFPAPYLMPCEIGLEAKRVTLTPDSKKEESFVCEHPSKKECVQIITAVTSLSPLLTFSKFCCTVLLQIMERESGNCPKDRYVVCGRVFLSLEDLSTGKYLLTFPKKKPIEHMEDLFALLAAFHKSCFQITSPGYALNSMKVWLLEHMKCEIIKEFPEVYFCERPGSFYGTLFTWKQRTPFEGILIIYSRNQTVMFQCLHNLIRILPINCFLKNLKSGSENFLIDNMAFTLEKELVTLSSLSSAIAKHESNFMQRCEVSKGKSSVVAAALSDRRENIHPYRKELQREKKKMLQTNLKVSGALYREITLKVAEVQLKSDFAAQKLSNL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:16679491}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: DNA repair protein required for FANCD2 ubiquitination. {ECO:0000269|PubMed:15502827}.
uniprot
proteins
mass_dalton
97726
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15502827
uniprot
proteins
pubmed
16116422
uniprot
proteins
pubmed
16679491
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23033978
uniprot
proteins
sequence_length
859
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15502827}.
uniprot
proteins