Details for: ACTN2
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 67.9300
Cell Significance Index: -17.2300 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 33.1071
Cell Significance Index: -13.4500 - Cell Name: type I muscle cell (CL0002211)
Fold Change: 11.2302
Cell Significance Index: 274.0100 - Cell Name: type II muscle cell (CL0002212)
Fold Change: 8.6724
Cell Significance Index: 139.9300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 7.4938
Cell Significance Index: 575.0700 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 7.3601
Cell Significance Index: 189.1900 - Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 4.8809
Cell Significance Index: 72.0600 - Cell Name: fetal cardiomyocyte (CL0002495)
Fold Change: 3.6814
Cell Significance Index: 10.5500 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 2.7356
Cell Significance Index: 121.0000 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 2.5423
Cell Significance Index: 96.2700 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.7603
Cell Significance Index: 152.5100 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 0.6878
Cell Significance Index: 46.2500 - Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.5083
Cell Significance Index: 7.3100 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 0.4852
Cell Significance Index: 50.5200 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.3560
Cell Significance Index: 4.4200 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.2110
Cell Significance Index: 145.9200 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.1348
Cell Significance Index: 61.1600 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.1290
Cell Significance Index: 46.2800 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.1012
Cell Significance Index: 6.2200 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 0.0936
Cell Significance Index: 2.6700 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0906
Cell Significance Index: 170.5500 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0365
Cell Significance Index: 56.1800 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0033
Cell Significance Index: 6.0000 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0023
Cell Significance Index: -3.1200 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0160
Cell Significance Index: -10.1500 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0194
Cell Significance Index: -3.5100 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0196
Cell Significance Index: -14.3900 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0241
Cell Significance Index: -17.8400 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0241
Cell Significance Index: -18.2300 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0291
Cell Significance Index: -18.1500 - Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0299
Cell Significance Index: -16.3500 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0317
Cell Significance Index: -17.8600 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0358
Cell Significance Index: -5.2000 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0408
Cell Significance Index: -6.9700 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0505
Cell Significance Index: -14.5300 - Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.0626
Cell Significance Index: -12.4200 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0865
Cell Significance Index: -18.2100 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0958
Cell Significance Index: -13.1500 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.1012
Cell Significance Index: -11.9400 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.1034
Cell Significance Index: -12.7200 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.1097
Cell Significance Index: -12.7900 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.1176
Cell Significance Index: -12.0100 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.1207
Cell Significance Index: -15.6000 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.1385
Cell Significance Index: -4.4100 - Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: -0.1392
Cell Significance Index: -1.7900 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.1395
Cell Significance Index: -17.8800 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1495
Cell Significance Index: -17.1300 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.1729
Cell Significance Index: -5.6600 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.1876
Cell Significance Index: -14.8600 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.2093
Cell Significance Index: -10.9900 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.2117
Cell Significance Index: -15.7800 - Cell Name: slow muscle cell (CL0000189)
Fold Change: -0.2139
Cell Significance Index: -3.2000 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.2214
Cell Significance Index: -10.0400 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.2314
Cell Significance Index: -5.5500 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.2436
Cell Significance Index: -12.6900 - Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
Fold Change: -0.2504
Cell Significance Index: -3.3400 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: -0.2674
Cell Significance Index: -3.8400 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.2723
Cell Significance Index: -7.6100 - Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.2759
Cell Significance Index: -5.5400 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.2782
Cell Significance Index: -15.6100 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.2900
Cell Significance Index: -18.2800 - Cell Name: fast muscle cell (CL0000190)
Fold Change: -0.2924
Cell Significance Index: -3.8300 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: -0.2989
Cell Significance Index: -4.3400 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.3009
Cell Significance Index: -10.5400 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.3122
Cell Significance Index: -14.6800 - Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: -0.3165
Cell Significance Index: -3.9200 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.3711
Cell Significance Index: -19.2800 - Cell Name: secondary lymphoid organ macrophage (CL0000867)
Fold Change: -0.3733
Cell Significance Index: -2.7400 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.3822
Cell Significance Index: -17.8200 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.3961
Cell Significance Index: -9.8800 - Cell Name: glutamatergic neuron (CL0000679)
Fold Change: -0.3974
Cell Significance Index: -4.3300 - Cell Name: neural cell (CL0002319)
Fold Change: -0.4106
Cell Significance Index: -4.7900 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.4124
Cell Significance Index: -8.9100 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.4269
Cell Significance Index: -9.0600 - Cell Name: ON midget ganglion cell (CL4033046)
Fold Change: -0.4302
Cell Significance Index: -5.4300 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.4325
Cell Significance Index: -15.0300 - Cell Name: OFF midget ganglion cell (CL4033047)
Fold Change: -0.4371
Cell Significance Index: -5.4500 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.4388
Cell Significance Index: -7.5200 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.4587
Cell Significance Index: -16.8400 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.4751
Cell Significance Index: -13.6200 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.4923
Cell Significance Index: -7.0500 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.4936
Cell Significance Index: -14.5400 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.4991
Cell Significance Index: -14.3800 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.5017
Cell Significance Index: -17.6300 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.5020
Cell Significance Index: -10.7300 - Cell Name: midget ganglion cell of retina (CL4023188)
Fold Change: -0.5107
Cell Significance Index: -5.3200 - Cell Name: lens fiber cell (CL0011004)
Fold Change: -0.5207
Cell Significance Index: -16.4700 - Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
Fold Change: -0.5233
Cell Significance Index: -5.3800 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.5285
Cell Significance Index: -10.4500 - Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: -0.5349
Cell Significance Index: -13.3400 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.5351
Cell Significance Index: -14.0700 - Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: -0.5466
Cell Significance Index: -7.3700 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.5503
Cell Significance Index: -12.0500 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: -0.5512
Cell Significance Index: -9.5300 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.5523
Cell Significance Index: -16.2200 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: -0.5620
Cell Significance Index: -11.7300 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.5686
Cell Significance Index: -15.2100 - Cell Name: oligodendrocyte (CL0000128)
Fold Change: -0.5708
Cell Significance Index: -6.1200 - Cell Name: neuron (CL0000540)
Fold Change: -0.5908
Cell Significance Index: -5.6000 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.5977
Cell Significance Index: -15.9600
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 1547637273
Symbol: ACTN2_HUMAN
Name: Alpha-actinin-2
UniProtKB Accession Codes:
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
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
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
PubMed ID: 10984498
Title: FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle.
PubMed ID: 10984498
PubMed ID: 11114196
Title: Calsarcins, a novel family of sarcomeric calcineurin-binding proteins.
PubMed ID: 11114196
PubMed ID: 11171996
Title: Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.
PubMed ID: 11171996
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
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
PubMed ID: 17046827
Title: Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein.
PubMed ID: 17046827
PubMed ID: 20554076
Title: The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin.
PubMed ID: 20554076
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
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
PubMed ID: 10481917
Title: Structure of the alpha-actinin rod: molecular basis for cross-linking of actin filaments.
PubMed ID: 10481917
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
PubMed ID: 14567970
Title: Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.
PubMed ID: 14567970
PubMed ID: 20022194
Title: Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
PubMed ID: 20022194
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
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
PubMed ID: 30701273
Title: ACTN2 mutations cause 'Multiple structured Core Disease' (MsCD).
PubMed ID: 30701273
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. 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.