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Aliases for FANCB Gene

Aliases for FANCB Gene

  • Fanconi Anemia, Complementation Group B 2 3
  • FAAP95 3 4 6
  • Fanconi Anemia-Associated Polypeptide Of 95 KDa 3 4
  • FAAP90 3 6
  • Fanconi Anemia Group B Protein 3
  • Protein FACB 4
  • EC 3.6.3.14 63
  • FLJ34064, 6
  • EC 2.8.1 63
  • FACB 3
  • FA2 3
  • FAB 3

External Ids for FANCB Gene

Previous GeneCards Identifiers for FANCB Gene

  • GC00U990101
  • GC0XM014622
  • GC0XU900615
  • GC0XM014771
  • GC0XM012620

Summaries for FANCB Gene

Entrez Gene Summary for FANCB Gene

  • 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]

GeneCards Summary for FANCB Gene

FANCB (Fanconi Anemia, Complementation Group B) is a Protein Coding gene. Diseases associated with FANCB include fanconi anemia, complementation group b and vacterl with hydrocephalus, fancb-related. Among its related pathways are DNA Repair and Fanconi anemia pathway (KEGG).

UniProtKB/Swiss-Prot for FANCB Gene

  • DNA repair protein required for FANCD2 ubiquitination.

Gene Wiki entry for FANCB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCB Gene

Genomics for FANCB Gene

Regulatory Elements for FANCB Gene

Transcription factor binding sites by QIAGEN in the FANCB gene promoter:

Genomic Location for FANCB Gene

Start:
14,843,407 bp from pter
End:
14,873,069 bp from pter
Size:
29,663 bases
Orientation:
Minus strand

Genomic View for FANCB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FANCB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCB Gene

Proteins for FANCB Gene

  • Protein details for FANCB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NB91-FANCB_HUMAN
    Recommended name:
    Fanconi anemia group B protein
    Protein Accession:
    Q8NB91
    Secondary Accessions:
    • B2RMZ4
    • Q7Z2U2
    • Q86XG1

    Protein attributes for FANCB Gene

    Size:
    859 amino acids
    Molecular mass:
    97726 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients.
    SequenceCaution:
    • Sequence=AAH43596.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH55411.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for FANCB Gene

Proteomics data for FANCB Gene at MOPED

Selected DME Specific Peptides for FANCB Gene

Post-translational modifications for FANCB Gene

  • Ubiquitination at Lys4
  • Modification sites at PhosphoSitePlus

Other Protein References for FANCB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for FANCB Gene

Gene Families for FANCB Gene

HGNC:
  • FANC :Fanconi anemia, complementation groups

Protein Domains for FANCB Gene

ProtoNet:

Suggested Antigen Peptide Sequences for FANCB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FANCB: view

No data available for UniProtKB/Swiss-Prot for FANCB Gene

Function for FANCB Gene

Molecular function for FANCB Gene

UniProtKB/Swiss-Prot Function: DNA repair protein required for FANCD2 ubiquitination.

Enzyme Numbers (IUBMB) for FANCB Gene

Gene Ontology (GO) - Molecular Function for FANCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17396147
genes like me logo Genes that share ontologies with FANCB: view

Phenotypes for FANCB Gene

GenomeRNAi human phenotypes for FANCB:
genes like me logo Genes that share phenotypes with FANCB: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for FANCB Gene

Localization for FANCB Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCB Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FANCB Gene COMPARTMENTS Subcellular localization image for FANCB gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for FANCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0043240 Fanconi anaemia nuclear complex IDA 20347428
genes like me logo Genes that share ontologies with FANCB: view

Pathways for FANCB Gene

genes like me logo Genes that share pathways with FANCB: view

Pathways by source for FANCB Gene

2 Reactome pathways for FANCB Gene
1 KEGG pathway for FANCB Gene

Gene Ontology (GO) - Biological Process for FANCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
genes like me logo Genes that share ontologies with FANCB: view

Transcripts for FANCB Gene

mRNA/cDNA for FANCB Gene

(6) Additional mRNA sequences :
(3) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FANCB Gene

Fanconi anemia, complementation group B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FANCB Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: -
SP3:
SP4: - -
SP5:

Relevant External Links for FANCB Gene

GeneLoc Exon Structure for
FANCB
ECgene alternative splicing isoforms for
FANCB

Expression for FANCB Gene

mRNA expression in normal human tissues for FANCB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FANCB Gene

SOURCE GeneReport for Unigene cluster for FANCB Gene Hs.554740

genes like me logo Genes that share expressions with FANCB: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FANCB Gene

Orthologs for FANCB Gene

This gene was present in the common ancestor of chordates.

Orthologs for FANCB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FANCB 35
  • 99.5 (n)
  • 99.42 (a)
FANCB 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FANCB 35
  • 83.22 (n)
  • 70.21 (a)
FANCB 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FANCB 35
  • 85.73 (n)
  • 75.5 (a)
FANCB 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fancb 35
  • 70.07 (n)
  • 50.42 (a)
Fancb 16
Fancb 36
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FANCB 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FANCB 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fancb 35
  • 70.76 (n)
  • 51.06 (a)
chicken
(Gallus gallus)
Aves FANCB 35
  • 58.49 (n)
  • 44.08 (a)
FANCB 36
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCB 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497907 35
  • 52.83 (n)
  • 36.15 (a)
zebrafish
(Danio rerio)
Actinopterygii fancb 35
  • 44.44 (n)
  • 28.52 (a)
fancb 36
  • 26 (a)
OneToOne
Species with no ortholog for FANCB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FANCB Gene

ENSEMBL:
Gene Tree for FANCB (if available)
TreeFam:
Gene Tree for FANCB (if available)

Paralogs for FANCB Gene

No data available for Paralogs for FANCB Gene

Variants for FANCB Gene

Sequence variations from dbSNP and Humsavar for FANCB Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs2106412 -- 14,843,282(+) CTAGA(C/T)GCCCA downstream-variant-500B
rs2188382 -- 14,864,066(+) ggagg(C/T)agagg intron-variant
rs2188383 -- 14,869,025(+) AAGGT(C/G)TGGCT utr-variant-5-prime, intron-variant
rs2375726 -- 14,843,553(+) gatca(A/G)attga utr-variant-3-prime
rs2375729 -- 14,864,431(+) AATAT(G/T)TATCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FANCB Gene

Variant ID Type Subtype PubMed ID
nsv9934 CNV Loss 18304495
nsv6812 CNV Loss 18451855

Relevant External Links for FANCB Gene

HapMap Linkage Disequilibrium report
FANCB
Human Gene Mutation Database (HGMD)
FANCB
Locus Specific Mutation Databases (LSDB)
FANCB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCB Gene

Disorders for FANCB Gene

(1) OMIM Diseases for FANCB Gene (300515)

UniProtKB/Swiss-Prot

FANCB_HUMAN
  • 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 mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for FANCB Gene

(4) Novoseek inferred disease relationships for FANCB Gene

Disease -log(P) Hits PubMed IDs
fanconis anemia 89 2
anemia 34 1
leukemia 28.9 3
cancer 20.3 1

Relevant External Links for FANCB

GeneTests
FANCB
GeneReviews
FANCB
Genetic Association Database (GAD)
FANCB
Human Genome Epidemiology (HuGE) Navigator
FANCB
genes like me logo Genes that share disorders with FANCB: view

Publications for FANCB Gene

  1. X-linked inheritance of Fanconi anemia complementation group B. (PMID: 15502827) Meetei A.R. … Joenje H. (Nat. Genet. 2004) 2 3 4
  2. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PMID: 16116422) Meetei A.R. … Wang W. (Nat. Genet. 2005) 3 4
  3. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. (PMID: 16679491) Holden S.T. … Woods C.G. (J. Med. Genet. 2006) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. (PMID: 18302019) GarcA-a M.J. … BenA-tez J. (Breast Cancer Res. Treat. 2009) 3 48

Products for FANCB Gene

Sources for FANCB Gene

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