Property Summary

NCBI Gene PubMed Count 92
PubMed Score 70.08
PubTator Score 23.82

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
non-small cell lung carcinoma 413 1.75369088774942E-31
ovarian cancer 8492 1.559227773618E-12
lung adenocarcinoma 2714 2.27246493695142E-12
psoriasis 6685 8.6598952923804E-11
posterior fossa group A ependymoma 1511 4.07776711847458E-10
acute quadriplegic myopathy 1157 1.35905526510706E-6
atypical teratoid / rhabdoid tumor 4369 1.03143541109615E-5
medulloblastoma 1524 1.26824521668831E-4
pilocytic astrocytoma 3086 2.4541147443127E-4
pediatric high grade glioma 2712 3.80835288098287E-4
primitive neuroectodermal tumor 3031 0.00109124827297384
glioblastoma 5572 0.00129412692818657
medulloblastoma, large-cell 6234 0.00131553429525488
Pick disease 1893 0.00282664468294643
lung cancer 4473 0.00332635680668876
osteosarcoma 7933 0.00773717641868141
astrocytoma 1493 0.0389137396945584
Disease Target Count Z-score Confidence
Dilated cardiomyopathy 51 0.0 5.0
Hypertrophic Cardiomyopathy 56 0.0 5.0
Disease Target Count Z-score Confidence
Cardiomyopathy 110 3.911 2.0

Expression

  Differential Expression (17)

Disease log2 FC p
osteosarcoma 2.242 0.008
posterior fossa group A ependymoma -1.800 0.000
medulloblastoma -2.100 0.000
astrocytoma -1.100 0.039
atypical teratoid / rhabdoid tumor -2.500 0.000
glioblastoma -2.000 0.001
medulloblastoma, large-cell -2.600 0.001
primitive neuroectodermal tumor -2.300 0.001
acute quadriplegic myopathy -1.337 0.000
lung cancer -1.600 0.003
pediatric high grade glioma -1.300 0.000
pilocytic astrocytoma -1.300 0.000
lung adenocarcinoma -1.400 0.000
non-small cell lung carcinoma -1.100 0.000
Pick disease -1.500 0.003
ovarian cancer 1.400 0.000
psoriasis -1.200 0.000

Synonym

Accession P35609 B1ANE4 B2RCS5 Q86TF4 Q86TI8
Symbols CMH23
CMD1AA

Gene

PDB

1H8B   1HCI   1QUU   4D1E   5A36   5A37   5A38   5A4B  

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

 GWAS Trait (1)

Gene RIF (21)

PMID Text
25433700 Study reports a complete high-resolution structure of the 200 kDa alpha-actinin-2 dimer from striated muscle and explore its functional implications on the biochemical and cellular level.
25224718 Clinical evaluation of an Australian family revealed diverse cardiac pathologies in four affected members and genetic testing of the exome identified a pathogenic ACTN2 heterozygous variant (Ala119Thr) that co-segregated with disease.
25173926 The novel heterozygous missense sequence variant ACTN2 cosegregated with a complex cardiomyopathic trait, characterized by the interplay of midapical, nonobstructive HCM, early onset of AF and AV block, as well as regional LV noncompaction.
24810274 study strengthens the hypothesis that ACTN2 influences caries risk.
22427672 Findigs show that the F-actin-binding protein alpha-actinin-2 targets CaMKIIalpha to F-actin in cells by binding to the CaMKII regulatory domain.
22253474 data provide functional evidence that the primary sequences of alpha-actinin-2 and alpha-actinin-3 evolved differences to optimize their functions
22081385 This study generated the genomic sequences of K88-positive and F18-positive porcine enteroteoxigenic E. coli (ETEC) strains and examined the phylogenetic distribution of clinical porcine ETEC strains and their plasmid-associated genetic content.
20474083 Observational study of genetic testing. (HuGE Navigator)
20398908 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
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AA Sequence

MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRNGL      1 - 70
KLMLLLEVISGERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILR     71 - 140
FAIQDISVEETSAKEGLLLWCQRKTAPYRNVNIQNFHTSWKDGLGLCALIHRHRPDLIDYSKLNKDDPIG    141 - 210
NINLAMEIAEKHLDIPKMLDAEDIVNTPKPDERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENE    211 - 280
RLMEEYERLASELLEWIRRTIPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQT    281 - 350
KLRISNRPAFMPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGK    351 - 420
EQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVNDRCQKICDQW    421 - 490
DRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQDMFIVHSIEEIQSLITAHEQ    491 - 560
FKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYSTVTMDELRTKWDKVKQLVPIRDQSLQEELA    561 - 630
RQHANERLRRQFAAQANAIGPWIQNKMEEIARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQ    631 - 700
LIQEALVFDNKHTNYTMEHIRVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKN    701 - 770
GLMDHEDFRACLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILAS    771 - 840
DKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL                    841 - 894
//

Text Mined References (99)

PMID Year Title
25433700 2014 The structure and regulation of human muscle ?-actinin.
25416956 2014 A proteome-scale map of the human interactome network.
25224718 2014 Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
25173926 2014 Novel ?-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.
24860983 2014 Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.
24810274 2014 Genetic Association of MPPED2 and ACTN2 with Dental Caries.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
More...