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Aliases for FANCB Gene

Aliases for FANCB Gene

  • Fanconi Anemia Complementation Group B 2 3 5
  • Fanconi Anemia-Associated Polypeptide Of 95 KDa 3 4
  • FAAP95 3 4
  • Protein FACB 4
  • EC 3.6.3.14 63
  • EC 2.8.1 63
  • FAAP90 3
  • FACB 3
  • FA2 3
  • FAB 3

External Ids for FANCB Gene

Previous GeneCards Identifiers for FANCB Gene

  • GC00U990101
  • GC0XM014622
  • GC0XU900615
  • GC0XM014771
  • GC0XM014861
  • GC0XM012620

Summaries for FANCB Gene

Entrez Gene Summary for FANCB 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]

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 fanconi anemia, complementation group a. Among its related pathways are DNA Double-Strand Break Repair and Fanconi anemia pathway.

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

Chromosome:
X
Start:
14,796,153 bp from pter
End:
14,873,317 bp from pter
Size:
77,165 bases
Orientation:
Minus strand

Genomic View for FANCB Gene

Genes around FANCB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 4
  • Modification sites at PhosphoSitePlus

Other Protein References for FANCB Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FANCB (FANCB)
  • Santa Cruz Biotechnology (SCBT) Antibodies for FANCB

Domains & Families for FANCB Gene

Gene Families for FANCB Gene

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

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

Human Phenotype Ontology for FANCB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FANCB Gene

MGI Knock Outs for FANCB:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for FANCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with FANCB: view

Pathways & Interactions 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

None

No data available for SIGNOR curated interactions for FANCB Gene

Drugs & Compounds for FANCB Gene

No Compound Related Data Available

Transcripts for FANCB Gene

mRNA/cDNA for FANCB Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(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

Protein differential expression in normal tissues from HIPED for FANCB Gene

This gene is overexpressed in Heart (67.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FANCB: view

Protein tissue co-expression partners for FANCB Gene

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia FANCB 35
  • 99.5 (n)
  • 99.42 (a)
FANCB 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fancb 35
  • 70.76 (n)
  • 51.06 (a)
oppossum
(Monodelphis domestica)
Mammalia FANCB 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FANCB 36
  • 50 (a)
OneToOne
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
VAR_069426 -
rs971900 -- 14,837,220(+) GAATA(A/C)AGATG intron-variant
rs721962 -- 14,834,011(-) gttgt(C/T)gtttt intron-variant
rs727975 -- 14,818,788(-) AAAAC(A/G)TCTCC intron-variant
rs727976 -- 14,818,643(-) GCATG(C/T)GTTAT 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

Variation tolerance for FANCB Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FANCB Gene

HapMap Linkage Disequilibrium report
FANCB
Human Gene Mutation Database (HGMD)
FANCB

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

Disorders for FANCB Gene

MalaCards: The human disease database

(8) MalaCards diseases for FANCB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group b
  • fanconi anemia complementation group b
fanconi anemia, complementation group a
  • fanconi's anemia
fancb-related fanconi anemia
vacterl with hydrocephalus, fancb-related
  • vacterl association with hydrocephalus
vacterl with hydrocephalus
  • sujansky-leonard syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FANCB in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for FANCB

Genetic Association Database (GAD)
FANCB
Human Genome Epidemiology (HuGE) Navigator
FANCB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FANCB
genes like me logo Genes that share disorders with FANCB: view

No data available for Genatlas for FANCB Gene

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 67
  2. Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers. (PMID: 20332657) Smith I.M. … Califano J.A. (ORL J. Otorhinolaryngol. Relat. Spec. 2010) 3 23
  3. Evidence for subcomplexes in the Fanconi anemia pathway. (PMID: 16720839) Medhurst A.L. … de Winter J.P. (Blood 2006) 3 23
  4. New advances in the DNA damage response network of Fanconi anemia and BRCA proteins. FAAP95 replaces BRCA2 as the true FANCB protein. (PMID: 15611632) Fei P. … Wang W. (Cell Cycle 2005) 3 23
  5. Evidence for at least eight Fanconi anemia genes. (PMID: 9382107) Joenje H. … Arwert F. (Am. J. Hum. Genet. 1997) 2 3

Products for FANCB Gene

Sources for FANCB Gene

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