CFL2 (cofilin 2)

2012-02-01  

Identity

HGNC
CFL2
LOCATION
14q13.1
LOCUSID
1073
ALIAS
NEM7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1073
MIM: 601443
HGNC: 1875
Ensembl: ENSG00000165410

Variants:

dbSNP: 1073
ClinVar: 1073
TCGA: ENSG00000165410
COSMIC: CFL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165410ENST00000298159Q9Y281
ENSG00000165410ENST00000298159Q549N0
ENSG00000165410ENST00000341223Q9Y281
ENSG00000165410ENST00000341223Q549N0
ENSG00000165410ENST00000422678F8WDN3
ENSG00000165410ENST00000554470G3V2U0
ENSG00000165410ENST00000555765Q9Y281
ENSG00000165410ENST00000556161Q9Y281
ENSG00000165410ENST00000672163Q549N0
ENSG00000165410ENST00000672517Q549N0

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Axon guidanceKEGGko04360
Regulation of actin cytoskeletonKEGGko04810
Axon guidanceKEGGhsa04360
Regulation of actin cytoskeletonKEGGhsa04810
Fc gamma R-mediated phagocytosisKEGGko04666
Fc gamma R-mediated phagocytosisKEGGhsa04666
PertussisKEGGko05133
PertussisKEGGhsa05133

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
221588952011Remodeling of actin filaments by ADF/cofilin proteins.89
171609032007Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.72
197521902009Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle.24
189285532008Cofilin activation in peripheral CD4 T cells of HIV-1 infected patients: a pilot study.23
165307872006Cofilin cross-bridges adjacent actin protomers and replaces part of the longitudinal F-actin interface.19
208018732010Prolyl hydroxylase domain (PHD) 2 affects cell migration and F-actin formation via RhoA/rho-associated kinase-dependent cofilin phosphorylation.18
218944362011Differential expression of up-regulated cofilin-1 and down-regulated cofilin-2 characteristic of pancreatic cancer tissues.17
269969392016TIRF microscopy analysis of human Cof1, Cof2, and ADF effects on actin filament severing and turnover.14
203471212010Coagulation Factor Xa inhibits cancer cell migration via LIMK1-mediated cofilin inactivation.13
225605152012Congenital myopathy caused by a novel missense mutation in the CFL2 gene.12

Citation

Dessen P

CFL2 (cofilin 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-02-01

Online version: http://atlasgeneticsoncology.org/gene/52583/cfl2