FANCB

Protein identityUniProt · HPA

UniProt accession

Q8NB91

Gene

FANCB

Ensembl

ENSG00000181544

Chromosome

X

Canonical length

859 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

859 residues, UniProt reviewed canonical sequence.

>Q8NB91|FANCB
     1  MTSKQAMSSN EQERLLCYNG EVLVFQLSKG NFADKEPTKT PILHVRRMVF DRGTKVFVQK
    61  STGFFTIKEE NSHLKIMCCN CVSDFRTGIN LPYIVIEKNK KNNVFEYFLL ILHSTNKFEM
   121  RLSFKLGYEM KDGLRVLNGP LILWRHVKAF FFISSQTGKV VSVSGNFSSI QWAGEIENLG
   181  MVLLGLKECC LSEEECTQEP SKSDYAIWNT KFCVYSLESQ EVLSDIYIIP PAYSSVVTYV
   241  HICATEIIKN QLRISLIALT RKNQLISFQN GTPKNVCQLP FGDPCAVQLM DSGGGNLFFV
   301  VSFISNNACA VWKESFQVAA KWEKLSLVLI DDFIGSGTEQ VLLLFKDSLN SDCLTSFKIT
   361  DLGKINYSSE PSDCNEDDLF EDKQENRYLV VPPLETGLKV CFSSFRELRQ HLLLKEKIIS
   421  KSYKALINLV QGKDDNTSSA EEKECLVPLC GEEENSVHIL DEKLSDNFQD SEQLVEKIWY
   481  RVIDDSLVVG VKTTSSLKLS LNDVTLSLLM DQAHDSRFRL LKCQNRVIKL STNPFPAPYL
   541  MPCEIGLEAK RVTLTPDSKK EESFVCEHPS KKECVQIITA VTSLSPLLTF SKFCCTVLLQ
   601  IMERESGNCP KDRYVVCGRV FLSLEDLSTG KYLLTFPKKK PIEHMEDLFA LLAAFHKSCF
   661  QITSPGYALN SMKVWLLEHM KCEIIKEFPE VYFCERPGSF YGTLFTWKQR TPFEGILIIY
   721  SRNQTVMFQC LHNLIRILPI NCFLKNLKSG SENFLIDNMA FTLEKELVTL SSLSSAIAKH
   781  ESNFMQRCEV SKGKSSVVAA ALSDRRENIH PYRKELQREK KKMLQTNLKV SGALYREITL
   841  KVAEVQLKSD FAAQKLSNL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FANCB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

2.3 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FANCB.

Disease | AllUniProt

Conditions FANCB is implicated in, by any mechanism.

• Fanconi anemia complementation group B (FANCB) MIM:300514

Disease | GeneticClinVar

29 pathogenic / likely-pathogenic of 810 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Fanconi anemia complementation group B
• Fanconi anemia
• FANCB-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.23

gnomAD pLI

1

gnomAD missense Z

-0.04

DepMap mean gene effect

0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• interstrand cross-link repair
• negative regulation of double-strand break repair via homologous recombination
• positive regulation of double-strand break repair via homologous recombination
• replication-born double-strand break repair via sister chromatid exchange

Cellular components

• chromatin
• cytosol
• Fanconi anaemia nuclear complex
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Fanconi anemia group B protein

KeywordsUniProt

• Acetylation
• DNA damage
• DNA repair
• Fanconi anemia
• Nucleus

InteractionsUniProt · HPA

Protein binding partners of FANCB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FAAP100
• FANCA
• FANCC