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Cfl2 Gene Detail
Summary
  • Symbol
    Cfl2
  • Name
    cofilin 2, muscle
  • Feature Type
    protein coding gene
  • IDs
    MGI:101763
    NCBI Gene: 12632
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr12:54905594-54909662 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 23.75 cM, cytoband C1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    144 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101763
 protein coding gene Chr12:54905594-54910065 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019739
 protein coding gene Chr12:53807126-53811186 (-)
A/J MGP_AJ_G0019701
 protein coding gene Chr12:51910488-51914543 (-)
AKR/J MGP_AKRJ_G0019672
 protein coding gene Chr12:53466527-53470582 (-)
BALB/cJ MGP_BALBcJ_G0019679
 protein coding gene Chr12:52196639-52200694 (-)
C3H/HeJ MGP_C3HHeJ_G0019482
 protein coding gene Chr12:53578298-53582353 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020127
 protein coding gene Chr12:55470901-55474961 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017750
 protein coding gene Chr12:50182509-50186565 (-)
CAST/EiJ MGP_CASTEiJ_G0019035
 protein coding gene Chr12:48588561-48592617 (-)
CBA/J MGP_CBAJ_G0019454
 protein coding gene Chr12:57377510-57381565 (-)
DBA/2J MGP_DBA2J_G0019568
 protein coding gene Chr12:51768383-51772438 (-)
FVB/NJ MGP_FVBNJ_G0019557
 protein coding gene Chr12:51175734-51179789 (-)
LP/J MGP_LPJ_G0019640
 protein coding gene Chr12:53871654-53875714 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019593
 protein coding gene Chr12:58979747-58983802 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020165
 protein coding gene Chr12:52956478-52960538 (-)
PWK/PhJ MGP_PWKPhJ_G0018802
 protein coding gene Chr12:46334572-46338696 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018596
 protein coding gene Chr12:47544394-47548427 (-)
WSB/EiJ MGP_WSBEiJ_G0019086
 protein coding gene Chr12:53427799-53431856 (-)



Homology
more
  • Human Ortholog
    CFL2, cofilin 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFL2, cofilin 2
  • Synonyms
    NEM7
  • Links
    NCBI Gene ID: 1073
    neXtProt AC: NX_Q9Y281
    UniProt: Q9Y281

  • Chr Location
    14q13.1; chr14:34709113-34714823 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CFL2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 2 alleles in 4 genetic backgrounds
    13 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.
Mice homozygous for a knock-out allele exhibit postnatal growth retardation and lethality associated with muscle weakness and skeletal muscle fiber degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    9
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
    736
  • Tissues
    26
  • cDNA Data
    112
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000062929 Ensembl Gene Model | MGI Sequence Detail 4069 C57BL/6J ±  kb
    transcript ENSMUST00000078124 Ensembl | MGI Sequence Detail 2940 Not Applicable  
    polypeptide ENSMUSP00000077262 Ensembl | MGI Sequence Detail 166 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 115
      cDNA 114
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-18569
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 10
      Gene Ontology 9
      Phenotypes 13
    • Earliest
      J:18330 Ono S, et al., Characterization of a novel cofilin isoform that is predominantly expressed in mammalian skeletal muscle. J Biol Chem. 1994 May 27;269(21):15280-6
    • Latest
      J:292636 Rosen SM, et al., Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Hum Mol Genet. 2020 Jul 29;29(12):1996-2003
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory