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Fanca Gene Detail
Summary
  • Symbol
    Fanca
  • Name
    Fanconi anemia, complementation group A
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341823
    NCBI Gene: 14087
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:123995039-124045315 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 72.10 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1972 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341823
 protein coding gene Chr8:123993033-124045390 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034251
 protein coding gene Chr8:126871502-126926891 (-)
A/J MGP_AJ_G0034231
 protein coding gene Chr8:121617560-121669957 (-)
AKR/J MGP_AKRJ_G0034158
 protein coding gene Chr8:125147789-125204053 (-)
BALB/cJ MGP_BALBcJ_G0034224
 protein coding gene Chr8:121824883-121875613 (-)
C3H/HeJ MGP_C3HHeJ_G0033935
 protein coding gene Chr8:125849856-125907982 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034744
 protein coding gene Chr8:131118087-131177712 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031686
 protein coding gene Chr8:114434479-114487185 (-)
CAST/EiJ MGP_CASTEiJ_G0033263
 protein coding gene Chr8:125945301-126022853 (-)
CBA/J MGP_CBAJ_G0033908
 protein coding gene Chr8:135932040-135993107 (-)
DBA/2J MGP_DBA2J_G0034064
 protein coding gene Chr8:120794392-120842717 (-)
FVB/NJ MGP_FVBNJ_G0034008
 protein coding gene Chr8:119960462-120010003 (-)
LP/J MGP_LPJ_G0034154
 protein coding gene Chr8:127005448-127058243 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034055
 protein coding gene Chr8:138074240-138126093 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034763
 protein coding gene Chr8:125362601-125414492 (-)
PWK/PhJ MGP_PWKPhJ_G0032964
 protein coding gene Chr8:120625219-120690452 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032804
 protein coding gene Chr8:124078688-124144920 (-)
WSB/EiJ MGP_WSBEiJ_G0033379
 protein coding gene Chr8:126099459-126152552 (-)



Homology
more
  • Human Ortholog
    FANCA, FA complementation group A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FANCA, FA complementation group A
  • Synonyms
    FA, FA1, FAA, FACA, FA-H, FAH, FANCH
  • Links
    NCBI Gene ID: 2175
    neXtProt AC: NX_O15360
    UniProt: O15360

  • Chr Location
    16q24.3; chr16:89726683-89816977 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Fanca mouse models; 11 with human FANCA associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 5 alleles in 8 genetic backgrounds
    1 phenotype from multigenic genotypes
    47 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
    19
  • GO References
    8
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    762
  • Tissues
    33
  • cDNA Data
    12
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032815 Ensembl Gene Model | MGI Sequence Detail 50277 C57BL/6J ±  kb
    transcript ENSMUST00000035495 Ensembl | MGI Sequence Detail 4485 Not Applicable  
    polypeptide ENSMUSP00000045217 Ensembl | MGI Sequence Detail 1439 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000007330 Fanconi anemia group A protein
      (term hierarchy)
    • InterPro Domains
      IPR003516 Fanconi anaemia group A protein
      IPR031729 Fanconi anaemia group A protein, N-terminal domain
    • GlyGen
      Q9JL70 2 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 1
      cDNA 15
      Primer pair 5
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2142773
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 8
      Phenotypes 47
    • 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:341107 Pawlikowska P, et al., FANCA deficiency promotes leukaemic progression by allowing the emergence of cells carrying oncogenic driver mutations. Oncogene. 2023 Sep;42(37):2764-2775
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory