About   Help   FAQ
Fanca Gene Detail
Summary
  • Symbol
    Fanca
  • Name
    Fanconi anemia, complementation group A
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341823
    NCBI Gene: 14087
  • Gene Overview
    MyGene.info: FANCA
Location & Maps
more
  • Sequence Map
    Chr8:123268300-123318576 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      50277 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 72.10 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    FANCA, Fanconi anemia complementation group A
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FANCA, Fanconi anemia complementation group A
    Orthology source: HomoloGene
  • Synonyms
    FA, FA1, FAA, FACA, FAH, FA-H, FANCH
  • Links
    NCBI Gene ID: 2175
    neXtProt AC: NX_O15360

  • Chr Location
    16q24.3; chr16:89737551-89816658 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Fanca mouse models; 2 with human FANCA associations

Human Disease Mouse Models
       Fanconi Anemia, Complementation Group A; FANCA   OMIM: 227650 View 3 models
       Tracheoesophageal Fistula with or without Esophageal Atresia   OMIM: 189960
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    38 phenotypes from 5 alleles in 8 genetic backgrounds
    1 phenotype from multigenic genotypes
    29 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.
Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility.
Gene Ontology
(GO)
Classifications
less
  • 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
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030114 VEGA Gene Model | MGI Sequence Detail 50277 C57BL/6J ±  kb
transcript OTTMUST00000074594 VEGA | MGI Sequence Detail 4485 Not Applicable  
polypeptide OTTMUSP00000038918 VEGA | MGI Sequence Detail 1439 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    660 from dbSNP Build 142
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000007330 Fanconi anemia group A protein
  • InterPro Domains
    IPR003516 Fanconi anaemia group A protein
    IPR031729 Fanconi anaemia group A protein, N-terminal domain
Molecular
Reagents
less
  • All nucleic 19
    Genomic 1
    cDNA 14
    Primer pair 3
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2142773
References
more
  • Summaries
    All 55
    Developmental Gene Expression 5
    Diseases 3
    Gene Ontology 4
    Phenotypes 29
  • Earliest
    J:56258 Abu-Issa R, et al., Expression of the Fanconi anemia group A gene (Fanca) during mouse embryogenesis. Blood. 1999 Jul 15;94(2):818-24
  • Latest
    J:228832 Amarachintha S, et al., Fanconi Anemia Mesenchymal Stromal Cells-Derived Glycerophospholipids Skew Hematopoietic Stem Cell Differentiation Through Toll-Like Receptor Signaling. Stem Cells. 2015 Nov;33(11):3382-96

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory