Gene ACTN2 - ENSG00000077522 | NCBI Gene ID: 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)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: cell of skeletal muscle (CL0000188)
Fold Change: 7.62
Marker Score: 5796
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 4.95
Marker Score: 110652
Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: 3.27
Marker Score: 27673.5
Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 3.18
Marker Score: 11317
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 2.9
Marker Score: 7269
Cell Name: fetal cardiomyocyte (CL0002495)
Fold Change: 2.37
Marker Score: 780
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 2.2
Marker Score: 29278
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 2.19
Marker Score: 692
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 2.12
Marker Score: 4648
Cell Name: lymphocyte (CL0000542)
Fold Change: 1.87
Marker Score: 943
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 1.72
Marker Score: 10365
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.54
Marker Score: 14659
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.51
Marker Score: 12976
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.5
Marker Score: 2313
Cell Name: mural cell (CL0008034)
Fold Change: 1.47
Marker Score: 169053
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.37
Marker Score: 868
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.33
Marker Score: 20845
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.32
Marker Score: 81449
Cell Name: interneuron (CL0000099)
Fold Change: 1.21
Marker Score: 552.5
Cell Name: goblet cell (CL0000160)
Fold Change: 1.12
Marker Score: 7418
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 1.08
Marker Score: 2049
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 1.05
Marker Score: 2518
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 1.04
Marker Score: 794
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 1.02
Marker Score: 2591
Cell Name: endothelial cell of artery (CL1000413)
Fold Change: 1.01
Marker Score: 420
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71822
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48047
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30408
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.95
Marker Score: 36048
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5339
Cell Name: fast muscle cell (CL0000190)
Fold Change: 0.93
Marker Score: 280
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: 0.92
Marker Score: 915
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.92
Marker Score: 1876
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2739
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5287
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.87
Marker Score: 8174
Cell Name: osteoclast (CL0000092)
Fold Change: 0.82
Marker Score: 408
Cell Name: renal beta-intercalated cell (CL0002201)
Fold Change: 0.81
Marker Score: 257
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1262
Cell Name: brush cell (CL0002204)
Fold Change: 0.78
Marker Score: 708
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 396
Cell Name: cardiac neuron (CL0010022)
Fold Change: 0.73
Marker Score: 904
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.72
Marker Score: 3031
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 177
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.68
Marker Score: 7057
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 0.66
Marker Score: 9915
Cell Name: astrocyte (CL0000127)
Fold Change: 0.63
Marker Score: 544.5
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.62
Marker Score: 755
Cell Name: germ cell (CL0000586)
Fold Change: 0.61
Marker Score: 1074
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.61
Marker Score: 402
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.61
Marker Score: 1235
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.6
Marker Score: 4606
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 0.59
Marker Score: 249
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.57
Marker Score: 456
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.56
Marker Score: 336
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.55
Marker Score: 147
Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 0.54
Marker Score: 1535
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.53
Marker Score: 251
Cell Name: skeletal muscle satellite cell (CL0000594)
Fold Change: 0.52
Marker Score: 351
Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 0.51
Marker Score: 140
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 0.51
Marker Score: 227
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 0.48
Marker Score: 2009
Cell Name: alveolar type 2 fibroblast cell (CL4028006)
Fold Change: 0.48
Marker Score: 267
Cell Name: oogonial cell (CL0000024)
Fold Change: 0.48
Marker Score: 688
Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
Fold Change: 0.47
Marker Score: 125
Cell Name: male germ cell (CL0000015)
Fold Change: 0.45
Marker Score: 131
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.44
Marker Score: 16378
Cell Name: neuron (CL0000540)
Fold Change: 0.42
Marker Score: 1728
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.42
Marker Score: 9013
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.41
Marker Score: 968
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 0.41
Marker Score: 508
Cell Name: slow muscle cell (CL0000189)
Fold Change: 0.4
Marker Score: 132
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.39
Marker Score: 233
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 0.38
Marker Score: 304
Cell Name: microglial cell (CL0000129)
Fold Change: 0.36
Marker Score: 661
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.36
Marker Score: 7214
Cell Name: pyramidal neuron (CL0000598)
Fold Change: 0.36
Marker Score: 605
Cell Name: ventricular cardiac muscle cell (CL2000046)
Fold Change: 0.35
Marker Score: 145
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.35
Marker Score: 112
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.33
Marker Score: 1286
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 0.32
Marker Score: 103
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.32
Marker Score: 158
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.3
Marker Score: 635.5
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.3
Marker Score: 124
Cell Name: epithelial cell of thymus (CL0002293)
Fold Change: 0.29
Marker Score: 92
Cell Name: neural progenitor cell (CL0011020)
Fold Change: 0.28
Marker Score: 1069
Cell Name: fat cell (CL0000136)
Fold Change: 0.28
Marker Score: 154
Cell Name: retinal ganglion cell (CL0000740)
Fold Change: 0.27
Marker Score: 337
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.27
Marker Score: 158
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.26
Marker Score: 99
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 0.26
Marker Score: 273
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.25
Marker Score: 123
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.25
Marker Score: 64
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.24
Marker Score: 108
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.23
Marker Score: 214
Cell Name: mature astrocyte (CL0002627)
Fold Change: 0.23
Marker Score: 153
Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
Fold Change: 0.22
Marker Score: 160
Cell Name: glutamatergic neuron (CL0000679)
Fold Change: 0.21
Marker Score: 2097
Cell Name: ependymal cell (CL0000065)
Fold Change: 0.21
Marker Score: 72
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 0.21
Marker Score: 859

Hover over a box to see details here...

**Key characteristics:** - ACTN2 is a large protein with a molecular weight of approximately 140 kDa. - It is expressed in a variety of cell types, including skeletal muscle, cardiac muscle, retinal bipolar neuron, cardiac muscle cell, smooth muscle cell of sphincter of pupil, ciliary muscle cell, and lymphocyte. - ACTN2 is a highly conserved protein, with a similar sequence found in organisms from yeast to humans. **Pathways and functions:** - ACTN2 is involved in a variety of cellular processes, including cell adhesion, migration, and signaling. - It is a key component of the cell adhesion complex, which is responsible for linking the cytoskeleton to the extracellular matrix. - ACTN2 is also involved in the assembly and function of NMDA receptors, which are a type of glutamate receptor that is expressed in the brain and other central nervous system tissues. - NMDA receptors are involved in a variety of cellular processes, including synaptic plasticity, learning and memory, and epilepsy. **Clinical significance:** - Mutations in the ACTN2 gene have been linked to a number of human diseases, including cerebral palsy, epilepsy, and heart disease. - These mutations can disrupt the function of ACTN2, leading to a variety of cellular defects that can cause neurological and cardiovascular problems. **Additional notes:** - ACTN2 is a highly important protein in the human body. - It is a key component of the cell adhesion complex, which is responsible for linking the cytoskeleton to the extracellular matrix. - ACTN2 is also involved in the assembly and function of NMDA receptors, which are a type of glutamate receptor that is expressed in the brain and other central nervous system tissues.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

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

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. For the full schema, download it here.

Details for: ACTN2

Associated with

Cells (max top 100)

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