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FLASH GENE

Symbol

ACTN2

contributors: mct - updated : 24-03-2021

HGNC name	actinin, alpha 2
HGNC id	164

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1AA cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction (LVNC) MPD6 myopathy, distal, 6, adult onset MYOCOZ myopathy, congenital with structured cores and Z-line abnormalities
Location	1q43      Physical location : 236.849.769 - 236.927.558
Synonym name	F-actin cross-linking protein
	alpha-actinin skeletal muscle
Synonym symbol(s)	CMD1AA, MPD6, CMH23, MYOCOZ

DNA

TYPE	functioning gene
STRUCTURE	78.13 kb     21 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001103 21 - 4528 - 894 - 2020 32111823 NM_001278344 23 - 5069 NP_001265273 - 686 - 2020 32111823 NM_001278343 21 - 4872 NP_001265272 - 894 - 2020 32111823

EXPRESSION

Type

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         Homo sapiens Nervous brain       moderately Reproductive male system prostate     moderately Respiratory lung       moderately Urinary kidney       moderately

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a pleckstrin homology (PH) domain
	one actin-binding domain
	two calponin homology domain
	four spectrin repeats
	two EF hand calcium binding domain

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Actn2

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	playing a role in anchor actin to a variety of intracellular structures
	association of KCNN2 channel with ACTN2 localizes the channel to the entry of external Ca(2+) source, which regulate the channel function
	potentially participating with ACTN3 in sequestering parafibromin (HRPT2) in the cytoplasmic compartment
	required for the functional membrane localization of a Ca2+-activated K+ channel (KCNN2)
	major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to maintain an ordered myofibrillar array

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with actin,the carboxyterminal region of dystrophin,the cytoplasmic tail of ADAM12, the N terminus of KCNA and KCNA5
	direct interaction of PDLIM2 with alpha-actinins and filamin
	physical and functional interactions between PKD2 and ACTN2 may play an important role in abnormal cell adhesion, proliferation and migration observed in ADPKD
	CSRP3
	interacts with rapsyn, a scaffold protein essential for neuromuscular junction formation (RAPSN-actinin interaction can be disrupted by inhibiting ABL1 and by cholinergic stimulation)
	interacting with KCNN2 (membrane localization of KCNN2 is dependent on its interacting protein, ACTN2, a major F-actin crosslinking protein)
	PDLIM3 binds ACTN2 in the Z-discs of muscle, and the ZASP-like motif is needed for this interaction
	FERMT2 is a novel ACTN2-interacting protein and plays an important role in the regulation of cardiac structure and function
	among UPR-related transcription factors, XBP1 upregulated ACTN2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1AA , MYOCOZ , MPD6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       mutated with CSRP3 in dilated cardiomyopathy with endocardial fibroelastosis constitutional germinal mutation       in hypertrophic cardiomyopathy

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS