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Fancl Gene Detail
Summary
  • Symbol
    Fancl
  • Name
    Fanconi anemia, complementation group L
  • Synonyms
    2010322C19Rik, B230118H11Rik, gcd, Phf9, Pog
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914280
    NCBI Gene: 67030
  • Gene Overview
    MyGene.info: FANCL
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:26387084-26471883 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 15.85 cM, cytoband A2-A3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    827 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914280
protein coding gene Chr11:26386135-26471883 (.)
129S1/SvImJ MGP_129S1SvImJ_G0018097
protein coding gene Chr11:24244426-24335450 (+)
A/J MGP_AJ_G0018070
protein coding gene Chr11:23310910-23390074 (+)
AKR/J MGP_AKRJ_G0018034
protein coding gene Chr11:24139180-24212357 (+)
BALB/cJ MGP_BALBcJ_G0018038
protein coding gene Chr11:23456387-23531603 (+)
C3H/HeJ MGP_C3HHeJ_G0017852
protein coding gene Chr11:24013152-24090942 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018490
protein coding gene Chr11:25175146-25254275 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016148
protein coding gene Chr11:22112198-22189463 (+)
CAST/EiJ MGP_CASTEiJ_G0017413
protein coding gene Chr11:24074340-24159792 (+)
CBA/J MGP_CBAJ_G0017826
protein coding gene Chr11:26297947-26383792 (+)
DBA/2J MGP_DBA2J_G0017936
protein coding gene Chr11:23207247-23285185 (+)
FVB/NJ MGP_FVBNJ_G0017928
protein coding gene Chr11:23000433-23075173 (+)
LP/J MGP_LPJ_G0018007
protein coding gene Chr11:24368603-24450257 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017954
protein coding gene Chr11:26877455-26961279 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018531
protein coding gene Chr11:24230109-24314124 (+)
PWK/PhJ MGP_PWKPhJ_G0017194
protein coding gene Chr11:23309156-23388598 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016991
protein coding gene Chr11:23941826-24015340 (+)
WSB/EiJ MGP_WSBEiJ_G0017467
protein coding gene Chr11:23881128-23957409 (+)



Homology
more
  • Human Ortholog
    FANCL, FA complementation group L
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FANCL, FA complementation group L
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FAAP43, PHF9, POG
  • Links
    NCBI Gene ID: 55120
    neXtProt AC: NX_Q9NW38
    UniProt: Q9NW38

  • Chr Location
    2p16.1; chr2:58159243-58241380 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 9987
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: FANCL
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Fancl mouse models; 1 with human FANCL associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 3 alleles in 9 genetic backgrounds
    3 images
    15 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67030 NCBI Gene Model | MGI Sequence Detail 84800 C57BL/6J ±  kb
    transcript NM_025923 RefSeq | MGI Sequence Detail 1798 C57BL/6  
    polypeptide Q9CR14 UniProt | EBI | MGI Sequence Detail 375 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 19
      Primer pair 3
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10019, MGI:1926122, MGI:2144571, MGI:95673
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 8
      Phenotypes 15
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory