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FLASH GENE

Symbol

CFL2

contributors: SGE/npt - updated : 01-02-2010

HGNC name	cofilin 2 (muscle)
HGNC id	1875

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NEM7 nemaline myopathy 7
Location	14q13.1      Physical location : 35.179.587 - 35.184.029
Synonym name	cofilin, muscle isoform
Synonym symbol(s)	COF2

DNA

TYPE	functioning gene
STRUCTURE	4.32 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	CFL2b is predominantly expressed in skeletal muscle, heart whereas CLF2A is ubiquitous

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021914 4 splicing 3125 NP_068733 - 166 - C.Thirion NM_138638 4 splicing 3267 NP_619579 - 166 - C.Thirion

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver       highly Reproductive male system prostate     highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one ADF-H domain

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to murine Cfl2 (99.4pc)
	homolog to rattus Cfl2 (99.4pc)

Homologene

FAMILY

actin-binding protein ADF family

CATEGORY

motor/contractile , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus

basic FUNCTION	actin-binding protein, depolymerization factor of F-actin to G-actin
	playing a role in normal muscle function and regeneration
	interfering with immunological synapse formation and T-cell activation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	forming a complex with CSRP3 that is directly invovled in sarcomere dysfunction and disase, due to its role in regulating CFL2-dependent F actin depolymerization (Papalouka 2009)
	major component of the intranuclear and cytoplasmic actin rods

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

phosphorylation of Ser24 may prevent recognition of the nuclear localization signal

ASSOCIATED DISORDERS

corresponding disease(s)

NEM7

Susceptibility

Variant & Polymorphism

Candidate gene	activated in CD4 T cells of HIV patients, aberrant activation that may also lead to abnormalities in T cells migration and activation that could contribute to viral pathogenesis (Wu 2008)
Marker
Therapy target

ANIMAL & CELL MODELS