ACTN2 | ENSG00000077522 | NCBI 88

Details for: ACTN2

Gene ID: 88

Symbol: ACTN2

Ensembl ID: ENSG00000077522

Description: actinin alpha 2

Associated with

Activation of nmda receptors and postsynaptic events
(R-HSA-442755)
Assembly and cell surface presentation of nmda receptors
(R-HSA-9609736)
Cell-cell communication
(R-HSA-1500931)
Creb1 phosphorylation through nmda receptor-mediated activation of ras signaling
(R-HSA-442742)
Hemostasis
(R-HSA-109582)
Long-term potentiation
(R-HSA-9620244)
Mapk1/mapk3 signaling
(R-HSA-5684996)
Mapk family signaling cascades
(R-HSA-5683057)
Muscle contraction
(R-HSA-397014)
Negative regulation of nmda receptor-mediated neuronal transmission
(R-HSA-9617324)
Nephrin family interactions
(R-HSA-373753)
Neuronal system
(R-HSA-112316)
Neurotransmitter receptors and postsynaptic signal transmission
(R-HSA-112314)
Platelet activation, signaling and aggregation
(R-HSA-76002)
Platelet degranulation
(R-HSA-114608)
Post nmda receptor activation events
(R-HSA-438064)
Raf/map kinase cascade
(R-HSA-5673001)
Ras activation upon ca2+ influx through nmda receptor
(R-HSA-442982)
Response to elevated platelet cytosolic ca2+
(R-HSA-76005)
Signal transduction
(R-HSA-162582)
Striated muscle contraction
(R-HSA-390522)
Transmission across chemical synapses
(R-HSA-112315)
Unblocking of nmda receptors, glutamate binding and activation
(R-HSA-438066)
Actin cytoskeleton organization
(GO:0030036)
Actin filament
(GO:0005884)
Actin filament binding
(GO:0051015)
Actin filament uncapping
(GO:0051695)
Calcium ion binding
(GO:0005509)
Cardiac muscle cell development
(GO:0055013)
Cell adhesion
(GO:0007155)
Cell junction
(GO:0030054)
Cell projection
(GO:0042995)
Cortical actin cytoskeleton
(GO:0030864)
Cytoskeletal protein binding
(GO:0008092)
Cytoskeleton
(GO:0005856)
Cytosol
(GO:0005829)
Dendritic spine
(GO:0043197)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Fatz binding
(GO:0051373)
Filopodium
(GO:0030175)
Focal adhesion
(GO:0005925)
Focal adhesion assembly
(GO:0048041)
Glutamatergic synapse
(GO:0098978)
Identical protein binding
(GO:0042802)
Integrin binding
(GO:0005178)
Lim domain binding
(GO:0030274)
Microspike assembly
(GO:0030035)
Muscle cell development
(GO:0055001)
Negative regulation of potassium ion transmembrane transporter activity
(GO:1901017)
Negative regulation of potassium ion transport
(GO:0043267)
Negative regulation of protein localization to cell surface
(GO:2000009)
Nuclear receptor coactivator activity
(GO:0030374)
Phosphatidylinositol-4,5-bisphosphate binding
(GO:0005546)
Phospholipase c-activating angiotensin-activated signaling pathway
(GO:0086097)
Plasma membrane
(GO:0005886)
Platelet alpha granule lumen
(GO:0031093)
Positive regulation of cation channel activity
(GO:2001259)
Positive regulation of dna-templated transcription
(GO:0045893)
Positive regulation of endocytic recycling
(GO:2001137)
Positive regulation of potassium ion transmembrane transporter activity
(GO:1901018)
Positive regulation of potassium ion transport
(GO:0043268)
Postsynaptic actin cytoskeleton
(GO:0098871)
Postsynaptic density, intracellular component
(GO:0099092)
Postsynaptic density membrane
(GO:0098839)
Protein binding
(GO:0005515)
Protein domain specific binding
(GO:0019904)
Protein localization to plasma membrane
(GO:0072659)
Pseudopodium
(GO:0031143)
Regulation of apoptotic process
(GO:0042981)
Regulation of membrane potential
(GO:0042391)
Sarcomere organization
(GO:0045214)
Structural constituent of muscle
(GO:0008307)
Titin binding
(GO:0031432)
Titin z domain binding
(GO:0070080)
Transmembrane transporter binding
(GO:0044325)
Z disc
(GO:0030018)

Other Information

Proteins

Alpha-actinin-2

Genular Protein ID: 1547637273

Symbol: ACTN2_HUMAN

Name: Alpha-actinin-2

UniProtKB Accession Codes:

P35609 B1ANE4 B2RCS5 Q86TF4 Q86TI8

Database IDs:

Citations:

PubMed ID: 1339456

Title: Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.

PubMed ID: 1339456

DOI: 10.1016/s0021-9258(19)50420-3

PubMed ID: 10548523

Title: Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle.

PubMed ID: 10548523

DOI: 10.1006/bbrc.1999.1661

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10427098

Title: ZASP: a new Z-band alternatively spliced PDZ-motif protein.

PubMed ID: 10427098

DOI: 10.1083/jcb.146.2.465

PubMed ID: 10984498

Title: FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle.

PubMed ID: 10984498

DOI: 10.1074/jbc.m007493200

PubMed ID: 11114196

Title: Calsarcins, a novel family of sarcomeric calcineurin-binding proteins.

PubMed ID: 11114196

DOI: 10.1073/pnas.260501097

PubMed ID: 11171996

Title: Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.

PubMed ID: 11171996

DOI: 10.1073/pnas.98.4.1595

PubMed ID: 11842093

Title: Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.

PubMed ID: 11842093

DOI: 10.1074/jbc.m200712200

PubMed ID: 15159419

Title: Affixin interacts with alpha-actinin and mediates integrin signaling for reorganization of F-actin induced by initial cell-substrate interaction.

PubMed ID: 15159419

DOI: 10.1083/jcb.200308141

PubMed ID: 17046827

Title: Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein.

PubMed ID: 17046827

DOI: 10.1074/jbc.m603244200

PubMed ID: 20554076

Title: The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin.

PubMed ID: 20554076

DOI: 10.1016/j.ejcb.2010.04.004

PubMed ID: 19932097

Title: BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin.

PubMed ID: 19932097

DOI: 10.1016/j.yexcr.2009.11.010

PubMed ID: 22972877

Title: F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo.

PubMed ID: 22972877

DOI: 10.1161/circresaha.112.271007

PubMed ID: 10481917

Title: Structure of the alpha-actinin rod: molecular basis for cross-linking of actin filaments.

PubMed ID: 10481917

DOI: 10.1016/s0092-8674(00)81981-9

PubMed ID: 11573089

Title: Ca2+-independent binding of an EF-hand domain to a novel motif in the alpha-actinin-titin complex.

PubMed ID: 11573089

DOI: 10.1038/nsb1001-853

PubMed ID: 11470434

Title: Crystal structure of the alpha-actinin rod reveals an extensive torsional twist.

PubMed ID: 11470434

DOI: 10.1016/s0969-2126(01)00619-0

PubMed ID: 14567970

Title: Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.

PubMed ID: 14567970

DOI: 10.1016/s1096-7192(03)00142-2

PubMed ID: 20022194

Title: Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

PubMed ID: 20022194

DOI: 10.1016/j.jacc.2009.11.016

PubMed ID: 25224718

Title: Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

PubMed ID: 25224718

DOI: 10.1186/s12881-014-0099-0

PubMed ID: 25173926

Title: Novel alpha-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

PubMed ID: 25173926

DOI: 10.1161/circgenetics.113.000486

PubMed ID: 30701273

Title: ACTN2 mutations cause 'Multiple structured Core Disease' (MsCD).

PubMed ID: 30701273

DOI: 10.1007/s00401-019-01963-8

PubMed ID: 30900782

Title: Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.

PubMed ID: 30900782

DOI: 10.1002/ana.25470

Sequence Information:

Length: 894
Mass: 103854
Checksum: 7F612C1C3B3E2299
Sequence:

MNQIEPGVQY NYVYDEDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS HLRKAGTQIE 
NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV NKALDYIASK GVKLVSIGAE 
EIVDGNVKMT LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW 
KDGLGLCALI HRHRPDLIDY SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDIVNTPKP 
DERAIMTYVS CFYHAFAGAE QAETAANRIC KVLAVNQENE RLMEEYERLA SELLEWIRRT 
IPWLENRTPE KTMQAMQKKL EDFRDYRRKH KPPKVQEKCQ LEINFNTLQT KLRISNRPAF 
MPSEGKMVSD IAGAWQRLEQ AEKGYEEWLL NEIRRLERLE HLAEKFRQKA STHETWAYGK 
EQILLQKDYE SASLTEVRAL LRKHEAFESD LAAHQDRVEQ IAAIAQELNE LDYHDAVNVN 
DRCQKICDQW DRLGTLTQKR REALERMEKL LETIDQLHLE FAKRAAPFNN WMEGAMEDLQ 
DMFIVHSIEE IQSLITAHEQ FKATLPEADG ERQSIMAIQN EVEKVIQSYN IRISSSNPYS 
TVTMDELRTK WDKVKQLVPI RDQSLQEELA RQHANERLRR QFAAQANAIG PWIQNKMEEI 
ARSSIQITGA LEDQMNQLKQ YEHNIINYKN NIDKLEGDHQ LIQEALVFDN KHTNYTMEHI 
RVGWELLLTT IARTINEVET QILTRDAKGI TQEQMNEFRA SFNHFDRRKN GLMDHEDFRA 
CLISMGYDLG EAEFARIMTL VDPNGQGTVT FQSFIDFMTR ETADTDTAEQ VIASFRILAS 
DKPYILAEEL RRELPPDQAQ YCIKRMPAYS GPGSVPGALD YAAFSSALYG ESDL

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ACTN2

Associated with

Other Information

Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. PubMed ID: 1339456

Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle. PubMed ID: 10548523

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

ZASP: a new Z-band alternatively spliced PDZ-motif protein. PubMed ID: 10427098

FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle. PubMed ID: 10984498

Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. PubMed ID: 11114196

Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. PubMed ID: 11171996

Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. PubMed ID: 11842093

Affixin interacts with alpha-actinin and mediates integrin signaling for reorganization of F-actin induced by initial cell-substrate interaction. PubMed ID: 15159419

Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein. PubMed ID: 17046827

The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin. PubMed ID: 20554076

BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin. PubMed ID: 19932097

F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo. PubMed ID: 22972877

Structure of the alpha-actinin rod: molecular basis for cross-linking of actin filaments. PubMed ID: 10481917

Ca2+-independent binding of an EF-hand domain to a novel motif in the alpha-actinin-titin complex. PubMed ID: 11573089

Crystal structure of the alpha-actinin rod reveals an extensive torsional twist. PubMed ID: 11470434

Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. PubMed ID: 14567970

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. PubMed ID: 20022194

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. PubMed ID: 25224718

Novel alpha-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. PubMed ID: 25173926

ACTN2 mutations cause 'Multiple structured Core Disease' (MsCD). PubMed ID: 30701273

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. PubMed ID: 30900782