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Fancb Gene Detail
Summary
  • Symbol
    Fancb
  • Name
    Fanconi anemia, complementation group B
  • Synonyms
    MGC:31411
  • Feature Type
    protein coding gene
  • IDs
    MGI:2448558
    NCBI Gene: 237211
  • Gene Overview
    MyGene.info: FANCB
Location & Maps
more
  • Sequence Map
    ChrX:164980592-164997272 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16681 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 76.75 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    FANCB, Fanconi anemia complementation group B
  • Vertebrate Orthologs
    11
  • Human Ortholog
    FANCB, Fanconi anemia complementation group B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FA2, FAAP90, FAAP95, FAB, FACB
  • Links
    NCBI Gene ID: 2187
    neXtProt AC: NX_Q8NB91

  • Chr Location
    Xp22.31; chrX:14796153-14873317 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 51880
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;2 frog, western clawed
  • HCOP
    human homology predictions: FANCB
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human FANCB associations

Human Disease Mouse Models
       Fanconi Anemia, Complementation Group B; FANCB   OMIM: 300514
Tracheoesophageal Fistula with or without Esophageal Atresia   OMIM: 189960
Vacterl Association, X-Linked, with or without Hydrocephalus; VACTERLX   OMIM: 314390
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Gene trapped
    2
  • Targeted
    2
  • Incidental Mutations
    APF
Mice homozygous for a knock-out allele exhibit male infertility with oligozoospermia, reduced primordial germ cells and defects in the maintenance of undifferentiated spermatogonia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019556 VEGA Gene Model | MGI Sequence Detail 16681 C57BL/6J ±  kb
transcript OTTMUST00000046697 VEGA | MGI Sequence Detail 2980 Not Applicable  
polypeptide OTTMUSP00000021096 VEGA | MGI Sequence Detail 862 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    52 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000007331 Fanconi anemia group B protein
  • InterPro Domains
    IPR033333 Fanconi anemia group B protein
Molecular
Reagents
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  • All nucleic 12
    cDNA 12

    Microarray probesets 4
References
more
  • Summaries
    All 26
    Developmental Gene Expression 1
    Gene Ontology 3
    Phenotypes 5
  • Earliest
    J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
  • Latest
    J:224588 Kato Y, et al., FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis. Hum Mol Genet. 2015 Sep 15;24(18):5234-49

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory