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] See more...

Aliases for FANCB Gene

Aliases for FANCB Gene

  • FA Complementation Group B 2 3 5
  • FAAP95 2 3 4
  • Fanconi Anemia-Associated Polypeptide Of 95 KDa 3 4
  • Fanconi Anemia Complementation Group B 2 3
  • Fanconi Anemia Group B Protein 3 4
  • FAB 2 3
  • Protein FACB 4
  • EC 3.6.3.14 51
  • FLJ34064 2
  • EC 2.8.1 51
  • FAAP90 3
  • FANCB 5
  • FACB 3
  • FA2 3

External Ids for FANCB Gene

Previous GeneCards Identifiers for FANCB Gene

  • GC00U990101
  • GC0XM014622
  • GC0XU900615
  • GC0XM014771
  • GC0XM014861
  • GC0XM012620
  • GC0XM014796

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 (FA Complementation Group B) is a Protein Coding gene. Diseases associated with FANCB include Fanconi Anemia, Complementation Group B and Vacterl With Hydrocephalus. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair.

UniProtKB/Swiss-Prot Summary for FANCB Gene

Gene Wiki entry for FANCB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FANCB Gene

Genomics for FANCB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FANCB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ014872 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.3 -346 4.4 SP1 CREB1 PRDM10 TFE3 RFX1 DDX20 ZNF143 RBFOX2 PKNOX1 POLR2A MOSPD2 FANCB FJ601678-180 ASB9
GH0XJ014851 Enhancer 0.3 Ensembl 12.9 +21.7 21654 3.2 RUNX3 SPI1 MOSPD2 FANCB NPM1P9 lnc-ASB9-4 GLRA2
GH0XJ014351 Enhancer 0.5 Ensembl ENCODE 4.7 +521.1 521054 1.6 EZH2 SPI1 FANCB piR-61101-704 piR-35002-171 GLRA2 GEMIN8
GH0XJ014354 Enhancer 0.4 Ensembl ENCODE 4.9 +517.9 517888 2.1 SMARCA4 FANCB MOSPD2 piR-61101-704 piR-35002-171 GLRA2 GEMIN8
GH0XJ014846 Enhancer 0.2 Ensembl 12.9 +26.4 26354 1.8 MOSPD2 FANCB NPM1P9 lnc-ASB9-4 GLRA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FANCB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FANCB

Top Transcription factor binding sites by QIAGEN in the FANCB gene promoter:
  • AML1a

Genomic Locations for FANCB Gene

Genomic Locations for FANCB Gene
chrX:14,690,863-14,873,255
(GRCh38/hg38)
Size:
182,393 bases
Orientation:
Minus strand
chrX:14,861,529-14,891,191
(GRCh37/hg19)
Size:
29,663 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

Selected DME Specific Peptides for FANCB Gene

Q8NB91:
  • NVFEYFL
  • LETGLKV

Post-translational modifications for FANCB Gene

  • Ubiquitination at Lys4
  • Modification sites at PhosphoSitePlus

Domains & Families for FANCB Gene

Gene Families for FANCB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FANCB Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FANCB Gene

GenScript: Design optimal peptide antigens:
  • Fanconi anemia-associated polypeptide of 95 kDa (FANCB_HUMAN)
genes like me logo Genes that share domains with FANCB: view

No data available for Graphical View of Domain Structure and 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

Phenotypes From GWAS Catalog 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
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 Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCB

No data available for Animal Models , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FANCB gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
cytoskeleton 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FANCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0043240 Fanconi anaemia nuclear complex IBA,IDA 20347428
genes like me logo Genes that share ontologies with FANCB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FANCB Gene

Pathways & Interactions for FANCB Gene

PathCards logo

SuperPathways 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
1 Cell Signaling Technology pathway for FANCB Gene

Gene Ontology (GO) - Biological Process for FANCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0036297 interstrand cross-link repair TAS --
GO:1905168 positive regulation of double-strand break repair via homologous recombination IBA 21873635
GO:1990414 replication-born double-strand break repair via sister chromatid exchange IBA 21873635
genes like me logo Genes that share ontologies with FANCB: view

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

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCB

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

Expression for FANCB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FANCB Gene



Protein tissue co-expression partners for FANCB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FANCB

SOURCE GeneReport for Unigene cluster for FANCB Gene:

Hs.554740

Evidence on tissue expression from TISSUES for FANCB Gene

  • Nervous system(4.5)
  • Skin(2.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • humerus
  • nail
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns 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 30 31
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FANCB 30 31
  • 85.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FANCB 30 31
  • 83.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fancb 30
  • 70.76 (n)
Mouse
(Mus musculus)
Mammalia Fancb 30 17 31
  • 70.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FANCB 31
  • 55 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FANCB 31
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FANCB 30 31
  • 58.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FANCB 31
  • 39 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100497907 30
  • 52.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii fancb 30 31
  • 44.44 (n)
OneToOne
Species where no ortholog for FANCB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for FANCB: view image

Paralogs for FANCB Gene

No data available for Paralogs for FANCB Gene

Variants for FANCB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FANCB Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
647502 Uncertain Significance: Fanconi anemia 14,864,613(-) C/A MISSENSE_VARIANT
650498 Uncertain Significance: Fanconi anemia 14,853,077(-) C/T MISSENSE_VARIANT
652059 Uncertain Significance: Fanconi anemia 14,843,979(-) T/C MISSENSE_VARIANT
655456 Uncertain Significance: Fanconi anemia; not provided 14,864,678(-) T/C MISSENSE_VARIANT
657054 Uncertain Significance: Fanconi anemia 14,843,880(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FANCB Gene

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

Variant ID Type Subtype PubMed ID
nsv6812 CNV deletion 18451855
nsv9934 CNV loss 18304495

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)

Additional Variant Information for FANCB Gene

Human Gene Mutation Database (HGMD)
FANCB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANCB

SNP Genotyping and Copy Number Assay Products

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

Disorders for FANCB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fanconi anemia, complementation group b
  • fancb
vacterl with hydrocephalus
  • sujansky-leonard syndrome
fanconi anemia, complementation group a
  • fanca
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
vacterl association
  • vater 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.

Additional Disease Information for FANCB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 AR … Joenje H (Nature genetics 2004) 2 3 4
  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 IM … Califano JA (ORL; journal for oto-rhino-laryngology and its related specialties 2010) 3 23
  3. Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. (PMID: 18302019) García MJ … Benítez J (Breast cancer research and treatment 2009) 3 41
  4. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. (PMID: 19536649) Barroso E … Ribas G (Breast cancer research and treatment 2009) 3 41
  5. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. (PMID: 16679491) Holden ST … Woods CG (Journal of medical genetics 2006) 3 4

Products for FANCB Gene

Sources for FANCB Gene