Property Summary

NCBI Gene PubMed Count 19
PubMed Score 13.71
PubTator Score 17.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
urothelial carcinoma -1.200 4.7e-02
uncontrolled asthma 1.200 4.0e-03
group 3 medulloblastoma -1.600 1.9e-04
Duchenne muscular dystrophy -1.806 8.9e-04
limb girdle muscular dystrophy 2A -2.446 1.1e-04
Becker muscular dystrophy -1.876 2.4e-02
autosomal dominant Emery-Dreifuss muscul... -3.077 2.6e-04
Amyotrophic Lateral Sclerosis -1.583 1.9e-03
interstitial cystitis -2.000 1.1e-04
Breast cancer -2.200 5.4e-15
ovarian cancer -1.700 2.3e-09
psoriasis -1.300 9.7e-30

Gene RIF (13)

PMID Text
24988482 Specific alleles and haplotype in the CMYA5 confer genetic risk for both schizophrenia and major depressive disorder in the Han Chinese population.
24524722 meta-analysis confirming association of CMYA5 polymorphisms and schizophrenia in East Asian population.
23778016 In a Han Chinese sample of schizophrenic patients, SNPs within CMYA5 were associated with the disorder.
23528614 Association of cardiomyopathy-associated 5 (CMYA5) gene of Schizophrenia, is reported.
23335746 CMYA5 is a new potential substrate of Kcna3 in human heart
21295948 This study demonstrated that the association between CMYA5 and schizophrenia in Han Chinese.
20838396 2 SNPS in CYMA5, rs4704591 & rs10043986, are significantly associated with schizophrenia. Haplotype conditioned analyses indicated that the association signals observed at these two markers are independent.
20634290 Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
19140017 Review discusses interactions that suggest myospryn is involved in two seemingly distinct processes, protein kinase A signalling and vesicular trafficking.
18344630 Polymorphism of myospryn is associated with left ventricular hypertrophy, and an association between a Z-disc protein and cardiac adaptation in response to pressure overload.
18344630 Observational study of gene-disease association. (HuGE Navigator)
17872945 perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin
16407236 Functions directly downstream of MEF2A at the costamere in striated muscle potentially playing a role in myofibrillogenesis.

AA Sequence

MASRDSNHAGESFLGSDGDEEATRELETEEESEGEEDETAAESEEEPDSRLSDQDEEGKIKQEYIISDPS      1 - 70
FSMVTVQREDSGITWETNSSRSSTPWASEESQTSGVCSREGSTVNSPPGNVSFIVDEVKKVRKRTHKSKH     71 - 140
GSPSLRRKGNRKRNSFESQDVPTNKKGSPLTSASQVLTTEKEKSYTGIYDKARKKKTTSNTPPITGAIYK    141 - 210
EHKPLVLRPVYIGTVQYKIKMFNSVKEELIPLQFYGTLPKGYVIKEIHYRKGKDASISLEPDLDNSGSNT    211 - 280
VSKTRKLVAQSIEDKVKEVFPPWRGALSKGSESLTLMFSHEDQKKIYADSPLNATSALEHTVPSYSSSGR    281 - 350
AEQGIQLRHSQSVPQQPEDEAKPHEVEPPSVTPDTPATMFLRTTKEECELASPGTAASENDSSVSPSFAN    351 - 420
EVKKEDVYSAHHSISLEAASPGLAASTQDGLDPDQEQPDLTSIERAEPVSAKLTPTHPSVKGEKEENMLE    421 - 490
PSISLSEPLMLEEPEKEEIETSLPIAITPEPEDSNLVEEEIVELDYPESPLVSEKPFPPHMSPEVEHKEE    491 - 560
ELILPLLAASSPEHVALSEEEREEIASVSTGSAFVSEYSVPQDLNHELQEQEGEPVPPSNVEAIAEHAVL    561 - 630
SEEENEEFEAYSPAAAPTSESSLSPSTTEKTSENQSPLFSTVTPEYMVLSGDEASESGCYTPDSTSASEY    631 - 700
SVPSLATKESLKKTIDRKSPLILKGVSEYMIPSEEKEDTGSFTPAVAPASEPSLSPSTTEKTSECQSPLP    701 - 770
STATSEHVVPSEGEDLGSERFTPDSKLISKYAAPLNATQESQKKIINEASQFKPKGISEHTVLSVDGKEV    771 - 840
IGPSSPDLVVASEHSFPPHTTEMTSECQAPPLSATPSEYVVLSDEEAVELERYTPSSTSASEFSVPPYAT    841 - 910
PEAQEEEIVHRSLNLKGASSPMNLSEEDQEDIGPFSPDSAFVSEFSFPPYATQEAEKREFECDSPICLTS    911 - 980
PSEHTILSDEDTEEAELFSPDSASQVSIPPFRISETEKNELEPDSLLTAVSASGYSCFSEADEEDIGSTA    981 - 1050
ATPVSEQFSSSQKQKAETFPLMSPLEDLSLPPSTDKSEKAEIKPEIPTTSTSVSEYLILAQKQKTQAYLE   1051 - 1120
PESEDLIPSHLTSEVEKGEREASSSVAAIPAALPAQSSIVKEETKPASPHSVLPDSVPAIKKEQEPTAAL   1121 - 1190
TLKAADEQMALSKVRKEEIVPDSQEATAHVSQDQKMEPQPPNVPESEMKYSVLPDMVDEPKKGVKPKLVL   1191 - 1260
NVTSELEQRKLSKNEPEVIKPYSPLKETSLSGPEALSAVKMEMKHDSKITTTPIVLHSASSGVEKQVEHG   1261 - 1330
PPALAFSALSEEIKKEIEPSSSTTTASVTKLDSNLTRAVKEEIPTDSSLITPVDRPVLTKVGKGELGSGL   1331 - 1400
PPLVTSADEHSVLAEEDKVAIKGASPIETSSKHLAWSEAEKEIKFDSLPSVSSIAEHSVLSEVEAKEVKA   1401 - 1470
GLPVIKTSSSQHSDKSEEARVEDKQDLLFSTVCDSERLVSSQKKSLMSTSEVLEPEHELPLSLWGEIKKK   1471 - 1540
ETELPSSQNVSPASKHIIPKGKDEETASSSPELENLASGLAPTLLLLSDDKNKPAVEVSSTAQGDFPSEK   1541 - 1610
QDVALAELSLEPEKKDKPHQPLELPNAGSEFSSDLGRQSGSIGTKQAKSPITETEDSVLEKGPAELRSRE   1611 - 1680
GKEENRELCASSTMPAISELSSLLREESQNEEIKPFSPKIISLESKEPPASVAEGGNPEEFQPFTFSLKG   1681 - 1750
LSEEVSHPADFKKGGNQEIGPLPPTGNLKAQVMGDILDKLSEETGHPNSSQVLQSITEPSKIAPSDLLVE   1751 - 1820
QKKTEKALHSDQTVKLPDVSTSSEDKQDLGIKQFSLMRENLPLEQSKSFMTTKPADVKETKMEEFFISPK   1821 - 1890
DENWMLGKPENVASQHEQRIAGSVQLDSSSSNELRPGQLKAAVSSKDHTCEVRKQVLPHSAEESHLSSQE   1891 - 1960
AVSALDTSSGNTETLSSKSYSSEEVKLAEEPKSLVLAGNVERNIAEGKEIHSLMESESLLLEKANTELSW   1961 - 2030
PSKEDSQEKIKLPPERFFQKPVSGLSVEQVKSETISSSVKTAHFPAEGVEPALGNEKEAHRSTPPFPEEK   2031 - 2100
PLEESKMVQSKVIDDADEGKKPSPEVKIPTQRKPISSIHAREPQSPESPEVTQNPPTQPKVAKPDLPEEK   2101 - 2170
GKKGISSFKSWMSSLFFGSSTPDNKVAEQEDLETQPSPSVEKAVTVIDPEGTIPTNFNVAEKPADHSLSE   2171 - 2240
VKLKTADEPRGTLVKSGDGQNVKEKSMILSNVEDLQQPKFISEVSREDYGKKEISGDSEEMNINSVVTSA   2241 - 2310
DGENLEIQSYSLIGEKLVMEEAKTIVPPHVTDSKRVQKPAIAPPSKWNISIFKEEPRSDQKQKSLLSFDV   2311 - 2380
VDKVPQQPKSASSNFASKNITKESEKPESIILPVEESKGSLIDFSEDRLKKEMQNPTSLKISEEETKLRS   2381 - 2450
VSPTEKKDNLENRSYTLAEKKVLAEKQNSVAPLELRDSNEIGKTQITLGSRSTELKESKADAMPQHFYQN   2451 - 2520
EDYNERPKIIVGSEKEKGEEKENQVYVLSEGKKQQEHQPYSVNVAESMSRESDISLGHSLGETQSFSLVK   2521 - 2590
ATSVTEKSEAMLAEAHPEIREAKAVGTQPHPLEESKVLVEKTKTFLPVALSCRDEIENHSLSQEGNLVLE   2591 - 2660
KSSRDMPDHSEEKEQFRESELSKGGSVDITKETVKQGFQEKAVGTQPRPLEESKVLVEKTKTFLPVVLSC   2661 - 2730
HDEIENHSLSQEGNLVLEKSSRDMPDHSEEKEQFKESELWKGGSVDITKESMKEGFPSKESERTLARPFD   2731 - 2800
ETKSSETPPYLLSPVKPQTLASGASPEINAVKKKEMPRSELTPERHTVHTIQTSKDDTSDVPKQSVLVSK   2801 - 2870
HHLEAAEDTRVKEPLSSAKSNYAQFISNTSASNADKMVSNKEMPKEPEDTYAKGEDFTVTSKPAGLSEDQ   2871 - 2940
KTAFSIISEGCEILNIHAPAFISSIDQEESEQMQDKLEYLEEKASFKTIPLPDDSETVACHKTLKSRLED   2941 - 3010
EKVTPLKENKQKETHKTKEEISTDSETDLSFIQPTIPSEEDYFEKYTLIDYNISPDPEKQKAPQKLNVEE   3011 - 3080
KLSKEVTEETISFPVSSVESALEHEYDLVKLDESFYGPEKGHNILSHPETQSQNSADRNVSKDTKRDVDS   3081 - 3150
KSPGMPLFEAEEGVLSRTQIFPTTIKVIDPEFLEEPPALAFLYKDLYEEAVGEKKKEEETASEGDSVNSE   3151 - 3220
ASFPSRNSDTDDGTGIYFEKYILKDDILHDTSLTQKDQGQGLEEKRVGKDDSYQPIAAEGEIWGKFGTIC   3221 - 3290
REKSLEEQKGVYGEGESVDHVETVGNVAMQKKAPITEDVRVATQKISYAVPFEDTHHVLERADEAGSHGN   3291 - 3360
EVGNASPEVNLNVPVQVSFPEEEFASGATHVQETSLEEPKILVPPEPSEERLRNSPVQDEYEFTESLHNE   3361 - 3430
VVPQDILSEELSSESTPEDVLSQGKESFEHISENEFASEAEQSTPAEQKELGSERKEEDQLSSEVVTEKA   3431 - 3500
QKELKKSQIDTYCYTCKCPISATDKVFGTHKDHEVSTLDTAISAVKVQLAEFLENLQEKSLRIEAFVSEI   3501 - 3570
ESFFNTIEENCSKNEKRLEEQNEEMMKKVLAQYDEKAQSFEEVKKKKMEFLHEQMVHFLQSMDTAKDTLE   3571 - 3640
TIVREAEELDEAVFLTSFEEINERLLSAMESTASLEKMPAAFSLFEHYDDSSARSDQMLKQVAVPQPPRL   3641 - 3710
EPQEPNSATSTTIAVYWSMNKEDVIDSFQVYCMEEPQDDQEVNELVEEYRLTVKESYCIFEDLEPDRCYQ   3711 - 3780
VWVMAVNFTGCSLPSERAIFRTAPSTPVIRAEDCTVCWNTATIRWRPTTPEATETYTLEYCRQHSPEGEG   3781 - 3850
LRSFSGIKGLQLKVNLQPNDNYFFYVRAINAFGTSEQSEAALISTRGTRFLLLRETAHPALHISSSGTVI   3851 - 3920
SFGERRRLTEIPSVLGEELPSCGQHYWETTVTDCPAYRLGICSSSAVQAGALGQGETSWYMHCSEPQRYT   3921 - 3990
FFYSGIVSDVHVTERPARVGILLDYNNQRLIFINAESEQLLFIIRHRFNEGVHPAFALEKPGKCTLHLGI   3991 - 4060
EPPDSVRHK                                                                4061 - 4069
//

Text Mined References (23)

PMID Year Title
25343990 2015 Genome-wide association study of selenium concentrations.
24988482 2014 The CMYA5 gene confers risk for both schizophrenia and major depressive disorder in the Han Chinese population.
24524722 2014 The cardiomyopathy-associated 5 (CMYA5) gene and risk of schizophrenia: meta-analysis of rs3828611 and rs4704591 in East Asian populations.
23818313 2013 Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.
23778016 2013 Genetic analysis of common variants in the CMYA5 (cardiomyopathy-associated 5) gene with schizophrenia.
23528614 2013 An association analysis of the cardiomyopathy-associated 5 (CMYA5) gene with schizophrenia in a Japanese population.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
23335746 2013 CMYA5: a new potential substrate of Kcna3 in human heart.
21295948 2011 A common variant of the cardiomyopathy associated 5 gene (CMYA5) is associated with schizophrenia in Chinese population.
20838396 2011 GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia.
20634290 2010 Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
19140017 2008 Biology of myospryn: what's known?
18344630 2007 Gene polymorphism of myospryn (cardiomyopathy-associated 5) is associated with left ventricular wall thickness in patients with hypertension.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17872945 2007 Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16407236 2006 Myospryn is a direct transcriptional target for MEF2A that encodes a striated muscle, alpha-actinin-interacting, costamere-localized protein.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14688250 2004 Myospryn is a novel binding partner for dysbindin in muscle.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11297942 2001 Identification of altered gene expression in skeletal muscles from Duchenne muscular dystrophy patients.