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FANCB Gene(Protein Coding)

Fanconi Anemia Complementation Group B

GCID:
GC0XM014796
GIFtS:
54
Genes Participants
UDN Logo

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
  • Fanconi Anemia Group B Protein 3
  • Protein FACB 4
  • EC 3.6.3.14 61
  • EC 2.8.1 61
  • 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 Vacterl With Hydrocephalus. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair.

UniProtKB/Swiss-Prot for FANCB Gene

  • DNA repair protein required for FANCD2 ubiquitination.

Gene Wiki entry for FANCB Gene

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

Genomics for FANCB Gene

Products:

  1. Regulatory Element

Regulatory Elements for FANCB Gene

Enhancers for FANCB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG014851 0.4 Ensembl 12.9 +21.4 21417 1.0 ZNF664 ZBTB33 MOSPD2 FANCB NPM1P9
GH0XG014354 0.4 ENCODE 4.9 +518.3 518253 1.5 SMARCA4 FANCB MOSPD2 GC0XP014325 GLRA2
GH0XG014359 0.4 ENCODE 4.8 +513.6 513599 1.0 POU5F1 EP300 FANCB GC0XP014325 GLRA2
GH0XG014351 0.4 ENCODE 4.7 +521.3 521315 1.1 EZH2 FANCB GC0XP014325 GLRA2
GH0XG014872 1 ENCODE 0.7 -0.1 -65 2.0 HDGF PKNOX1 ATF1 ARID4B E2F7 SIN3A DMAP1 BRCA1 ZNF2 ZNF48 MOSPD2 FANCB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FANCB on UCSC Golden Path with GeneCards custom track

Promoters for FANCB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000244713 -283 2401 HDGF PKNOX1 ATF1 ARID4B E2F7 SIN3A DMAP1 BRCA1 ZNF2 ZNF48

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 Structure • Gene Density

RefSeq DNA sequence for FANCB Gene

Proteins for FANCB Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for FANCB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for FANCB Gene

Q8NB91:
  • NVFEYFL
  • LETGLKV

Post-translational modifications for FANCB Gene

  • Ubiquitination at Lys4
  • Modification sites at PhosphoSitePlus

Other Protein References for FANCB Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for FANCB Gene

Gene Families for FANCB Gene

HGNC:

Protein Domains for FANCB Gene

InterPro:
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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
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

Flow Cytometry Products

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

Nucleus.

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 2
extracellular 1
cytoskeleton 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 IDA 20347428
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

1 Cell Signaling Technology pathway 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 IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0036297 interstrand cross-link repair TAS --
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for FANCB Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FANCB Gene

(6) 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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for FANCB Gene
mRNA expression by BioGPS for FANCB GenemRNA expression by GTEx 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, MaxQB, and MOPED for FANCB Gene



Protein tissue co-expression partners for FANCB Gene

NURSA nuclear receptor signaling pathways regulating expression of FANCB Gene:

FANCB

SOURCE GeneReport for Unigene cluster for FANCB Gene:

Hs.554740

Evidence on tissue expression from TISSUES for FANCB Gene

  • Nervous system(4.4)

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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
 Mammalia FANCB 34 35
  • 99.5 (n)
dog
(Canis familiaris)
 Mammalia FANCB 34 35
  • 85.73 (n)
cow
(Bos Taurus)
 Mammalia FANCB 34 35
  • 83.22 (n)
rat
(Rattus norvegicus)
 Mammalia Fancb 34
  • 70.76 (n)
mouse
(Mus musculus)
 Mammalia Fancb 34 16 35
  • 70.07 (n)
oppossum
(Monodelphis domestica)
 Mammalia FANCB 35
  • 55 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FANCB 35
  • 50 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FANCB 34 35
  • 58.49 (n)
lizard
(Anolis carolinensis)
 Reptilia FANCB 35
  • 39 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100497907 34
  • 52.83 (n)
zebrafish
(Danio rerio)
 Actinopterygii fancb 34 35
  • 44.44 (n)
Species where no ortholog for FANCB was found in the sources mined by GeneCards:
  • 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
rs142959373 Likely benign 14,845,014(+) TACTG(A/G)ATGTT nc-transcript-variant, reference, missense
rs143131218 Likely benign 14,843,695(+) TTCTC(C/T)CTGAA nc-transcript-variant, reference, missense
rs143434225 Likely benign 14,843,501(+) TAGCA(A/C)GTAGA intron-variant, utr-variant-3-prime
rs147260208 Likely benign 14,865,109(+) ACCCT(C/T)AGGCC intron-variant, nc-transcript-variant, reference, synonymous-codon
rs148257882 Likely benign 14,843,736(+) TTCTG(C/T)CTGAT nc-transcript-variant, reference, missense

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)

Relevant External Links for FANCB Gene

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

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

Disorders for FANCB Gene

MalaCards: The human disease database

(10) 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
vacterl with hydrocephalus
  • sujansky-leonard syndrome
vacterl with hydrocephalus, fancb-related
  • vacterl-h, x-linked
fancb-related fanconi anemia
fanconi anemia, complementation group a
  • fanconi's anemia
- 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 64
  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 22 64
  3. 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 46 64
  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 Res. Treat. 2009) 3 46 64
  5. 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 64

Products for FANCB Gene

Sources for FANCB Gene

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