Property Summary

NCBI Gene PubMed Count 58
PubMed Score 391.08
PubTator Score 190.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Thoracic aortic aneurysm 13 0.0 5.0
Disease Target Count Z-score Confidence
Aortic aneurysm 34 3.572 1.8
Cancer 2346 0.0 4.0

Expression

  Differential Expression (26)

Disease log2 FC p
interstitial lung disease 1.200 4.8e-02
psoriasis -2.200 1.0e-05
osteosarcoma -4.342 5.3e-04
glioblastoma -1.500 6.9e-05
non diabetic and post-ischemic heart fai... 1.100 1.9e-02
atypical teratoid / rhabdoid tumor -1.300 1.2e-03
medulloblastoma -1.200 2.5e-02
medulloblastoma, large-cell -1.400 9.9e-04
primitive neuroectodermal tumor -1.100 1.7e-02
Atopic dermatitis -1.200 6.2e-03
adrenocortical adenoma -1.065 1.0e-02
non-small cell lung cancer -2.033 5.1e-12
intraductal papillary-mucinous adenoma (... -2.200 3.0e-05
intraductal papillary-mucinous carcinoma... -1.900 3.4e-04
intraductal papillary-mucinous neoplasm ... -2.000 4.8e-03
colon cancer -5.100 2.9e-05
lung cancer -2.400 1.3e-05
breast carcinoma -2.100 8.6e-36
Breast cancer -3.800 3.8e-59
lung adenocarcinoma -2.400 3.9e-05
adult high grade glioma -1.600 4.4e-04
lung carcinoma -1.100 2.3e-05
Pick disease 1.500 9.6e-03
ductal carcinoma in situ -1.400 8.1e-04
invasive ductal carcinoma -2.900 1.5e-03
pituitary cancer 1.200 5.0e-03

Gene RIF (39)

PMID Text
26056961 Deletion mutation in MYH11 gene causing familial Thoracic aortic dissection was identified in two independent Japanese pedigrees.
26017485 In familial AAA we found one pathogenic and segregating variant (COL3A1 p.Arg491X), one likely pathogenic and segregating (MYH11 p.Arg254Cys), and fifteen VUS.
25266220 we report a novel hypomethylation pattern, specific to CBFB-MYH11 fusion resulting from inv(16) rearrangement in acute myeloid leukemia the expression of which correlated with PBX3 differential methylation
25181625 Data suggest that expression of MYH11, myosin light chain, and MLCK (myosin-light-chain kinase), is up-regulated in uterine myoma as compared to adjacent smooth muscle cells; expression of MYH11 appears to be involved in cell proliferation.
25079347 CBFB contributes to the transcriptional regulation of ribosomal gene expression and provide further understanding of the epigenetic role of CBFB-SMMHC in proliferation and maintenance of the leukemic phenotype.
24921172 MYH11 gene mutation is associated with family history of thoracic aortic aneurysm dissection.
24711452 overexpression of MYH11 can lead to increased ER stress and autophagy
24002588 Transcriptional analysis revealed that upon fusion protein knockdown, a small subset of the CBFbeta-MYH11 target genes show increased expression, confirming a role in transcriptional repression
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of myosin, heavy chain 11 (MYH11, smooth muscle) expression by HIV-1 Vpr in Vpr transduced macrophages
23160462 We conclude that non-type A CBFB-MYH11 fusion types associate with distinct clinical and genetic features, including lack of KIT mutations, and a unique gene-expression profile in acute myeloid leukemia
23152542 Our data indicate that the CBFbeta-SMMHC's C-terminus is essential to induce embryonic hematopoietic defects and leukemogenesis.
22968129 Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
22511748 A rare variant in MYH11, R247C, alters myosin contractile function and smooth muscle cell phenotype, leading to increased proliferation in vitro and in response to vascular injury.
22001912 Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects, and three MYH11, ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations.
21937134 MYH11 mutations are rare and are identified in patients with thoracic aortic aneurysm/dissection.
21698135 increased MYH11 expression was found in aortic tissues from TAAD patients with 16p13.1 duplications compared with control aortas.
21205888 Data suggest that that hASMCs contain a significant pool of functional SMM in the 10S conformation that can assemble into filaments upon changing cellular conditions.
20508610 CBFB-MYH11 rearrangement is associated with acute myeloid leukemia.
20132408 Data show that the purified hMDCs cultured in SMIM for 4 weeks and expressed significant amount of smooth muscle myosin heavy chain and alpha-smooth muscle actin.
19011151 Selective overexpression of airway smooth muscle genes in asthmatic airways leads to increased Vmax, thus contributing to the airway hyperresponsiveness observed in asthma.
18941465 MYH11 mutation is not required for early hereditary nonpolyposis colorectal cancer adenoma formation, but it is selected for in the process of microsattelite instability positive cancer tumorigenesis.
18798114 three novel amino acid substitutions in MYH11 in AML samples, located in the highly conserved myosin head and rod essential for motor function and regulation of MYH11
18796164 Little evidence for a role of somatic MYH11 mutations in the formation of breast or prostate cancers
18796164 Observational study of gene-disease association. (HuGE Navigator)
18391202 MYH11 mutations in patients with colorectal cancer, Peutz-Jeghers syndrome and juvenile polyposis .
17956658 MYH11 gene is involved in only rare instances when persistent patency of the arterial duct occurs in sporadic fashion.
17956658 Observational study of gene-disease association. (HuGE Navigator)
17666408 MYH11 mutations are likely to be specific to the phenotype of thoracic aortic aneurysms and dissections associated with patent ductus arteriosus and result in a distinct aortic and occlusive vascular pathology potentially driven by IGF-1 and Ang II.
17571080 Examine consequences of expression of abnormal chimeric protein CBFbeta-MYH11 in acute myelomonocytic leukemia.
17287858 Rare fusion transcripts were correlated with an atypical cytomorphology not primarily suggestive for the FAB subtype acute myelocytic leukemia.
16767164 Agents interacting with the outer surface of the CBFbeta-SMMHC ACD that prevent multimerization may be effective as novel therapeutics in AML
16504290 These observations suggest that when abdominal GS is diagnosed, an analysis of the CBFB/MYH11 fusion gene is necessary to make an appropriate decision regarding treatment options, even if no chromosomal abnormalities are found.
16502584 Detection of acute myeloid leukemic cells that are characterized by a CBFB-MYH11 gene fusion.
16444274 Human MYH11 gene mutations provide the first example of a direct change in a specific smooth muscle cell protein leading to an inherited arterial diseases
15968309 Observational study of genetic testing. (HuGE Navigator)
15585652 Plag1 and Plagl2 are novel leukemia oncogenes that act by expanding hematopoietic progenitors expressing CbF beta-SMMHC.
12239155 leukemogenic fusion gene (with Cbfb) plays a role in hematopoiesis
11439001 sequence deletion in Pseudoxanthoma elasticum
8424456 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of myosin, heavy chain 11 (MYH11, smooth muscle) expression by HIV-1 Vpr in Vpr transduced macrophages

AA Sequence

MAQKGQLSDDEKFLFVDKNFINSPVAQADWAAKRLVWVPSEKQGFEAASIKEEKGDEVVVELVENGKKVT      1 - 70
VGKDDIQKMNPPKFSKVEDMAELTCLNEASVLHNLRERYFSGLIYTYSGLFCVVVNPYKHLPIYSEKIVD     71 - 140
MYKGKKRHEMPPHIYAIADTAYRSMLQDREDQSILCTGESGAGKTENTKKVIQYLAVVASSHKGKKDTSI    141 - 210
TGELEKQLLQANPILEAFGNAKTVKNDNSSRFGKFIRINFDVTGYIVGANIETYLLEKSRAIRQARDERT    211 - 280
FHIFYYMIAGAKEKMRSDLLLEGFNNYTFLSNGFVPIPAAQDDEMFQETVEAMAIMGFSEEEQLSILKVV    281 - 350
SSVLQLGNIVFKKERNTDQASMPDNTAAQKVCHLMGINVTDFTRSILTPRIKVGRDVVQKAQTKEQADFA    351 - 420
VEALAKATYERLFRWILTRVNKALDKTHRQGASFLGILDIAGFEIFEVNSFEQLCINYTNEKLQQLFNHT    421 - 490
MFILEQEEYQREGIEWNFIDFGLDLQPCIELIERPNNPPGVLALLDEECWFPKATDKSFVEKLCTEQGSH    491 - 560
PKFQKPKQLKDKTEFSIIHYAGKVDYNASAWLTKNMDPLNDNVTSLLNASSDKFVADLWKDVDRIVGLDQ    561 - 630
MAKMTESSLPSASKTKKGMFRTVGQLYKEQLGKLMTTLRNTTPNFVRCIIPNHEKRSGKLDAFLVLEQLR    631 - 700
CNGVLEGIRICRQGFPNRIVFQEFRQRYEILAANAIPKGFMDGKQACILMIKALELDPNLYRIGQSKIFF    701 - 770
RTGVLAHLEEERDLKITDVIMAFQAMCRGYLARKAFAKRQQQLTAMKVIQRNCAAYLKLRNWQWWRLFTK    771 - 840
VKPLLQVTRQEEEMQAKEDELQKTKERQQKAENELKELEQKHSQLTEEKNLLQEQLQAETELYAEAEEMR    841 - 910
VRLAAKKQELEEILHEMEARLEEEEDRGQQLQAERKKMAQQMLDLEEQLEEEEAARQKLQLEKVTAEAKI    911 - 980
KKLEDEILVMDDQNNKLSKERKLLEERISDLTTNLAEEEEKAKNLTKLKNKHESMISELEVRLKKEEKSR    981 - 1050
QELEKLKRKLEGDASDFHEQIADLQAQIAELKMQLAKKEEELQAALARLDDEIAQKNNALKKIRELEGHI   1051 - 1120
SDLQEDLDSERAARNKAEKQKRDLGEELEALKTELEDTLDSTATQQELRAKREQEVTVLKKALDEETRSH   1121 - 1190
EAQVQEMRQKHAQAVEELTEQLEQFKRAKANLDKNKQTLEKENADLAGELRVLGQAKQEVEHKKKKLEAQ   1191 - 1260
VQELQSKCSDGERARAELNDKVHKLQNEVESVTGMLNEAEGKAIKLAKDVASLSSQLQDTQELLQEETRQ   1261 - 1330
KLNVSTKLRQLEEERNSLQDQLDEEMEAKQNLERHISTLNIQLSDSKKKLQDFASTVEALEEGKKRFQKE   1331 - 1400
IENLTQQYEEKAAAYDKLEKTKNRLQQELDDLVVDLDNQRQLVSNLEKKQRKFDQLLAEEKNISSKYADE   1401 - 1470
RDRAEAEAREKETKALSLARALEEALEAKEELERTNKMLKAEMEDLVSSKDDVGKNVHELEKSKRALETQ   1471 - 1540
MEEMKTQLEELEDELQATEDAKLRLEVNMQALKGQFERDLQARDEQNEEKRRQLQRQLHEYETELEDERK   1541 - 1610
QRALAAAAKKKLEGDLKDLELQADSAIKGREEAIKQLRKLQAQMKDFQRELEDARASRDEIFATAKENEK   1611 - 1680
KAKSLEADLMQLQEDLAAAERARKQADLEKEELAEELASSLSGRNALQDEKRRLEARIAQLEEELEEEQG   1681 - 1750
NMEAMSDRVRKATQQAEQLSNELATERSTAQKNESARQQLERQNKELRSKLHEMEGAVKSKFKSTIAALE   1751 - 1820
AKIAQLEEQVEQEAREKQAATKSLKQKDKKLKEILLQVEDERKMAEQYKEQAEKGNARVKQLKRQLEEAE   1821 - 1890
EESQRINANRRKLQRELDEATESNEAMGREVNALKSKLRRGNETSFVPSRRSGGRRVIENADGSEEETDT   1891 - 1960
RDADFNGTKASE                                                             1961 - 1972
//

Text Mined References (62)

PMID Year Title
26056961 2015 A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees.
26017485 2015 First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
25266220 2014 CBFB-MYH11 hypomethylation signature and PBX3 differential methylation revealed by targeted bisulfite sequencing in patients with acute myeloid leukemia.
25181625 2014 Overexpression of myosin is associated with the development of uterine myoma.
25079347 2014 CBF? and the leukemogenic fusion protein CBF?-SMMHC associate with mitotic chromosomes to epigenetically regulate ribosomal genes.
24921172 2014 Successful long-term management of iris flocculi and miosis in a patient with a strong family history of thoracic aortic aneurysms and dissections associated with an MYH11 mutation.
24823311 2014 Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
24711452 2014 Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament-associated proteins in vascular smooth muscle cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24002588 2014 CBFB-MYH11/RUNX1 together with a compendium of hematopoietic regulators, chromatin modifiers and basal transcription factors occupies self-renewal genes in inv(16) acute myeloid leukemia.
23966867 2013 Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23314172 2013 Detection of histone modifications at specific gene loci in single cells in histological sections.
23160462 2013 inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations.
23152542 2013 The C-terminus of CBF?-SMMHC is required to induce embryonic hematopoietic defects and leukemogenesis.
22968129 2013 Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
22511748 2012 Rare, nonsynonymous variant in the smooth muscle-specific isoform of myosin heavy chain, MYH11, R247C, alters force generation in the aorta and phenotype of smooth muscle cells.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
22001912 2012 Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
21937134 2013 Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGF? signaling in FTAAD.
21698135 2011 Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.
21205888 2011 Direct evidence for functional smooth muscle myosin II in the 10S self-inhibited monomeric conformation in airway smooth muscle cells.
20508610 2010 Prognostic value of minimal residual disease by real-time quantitative PCR in acute myeloid leukemia with CBFB-MYH11 rearrangement: the French experience.
20132408 2011 Characterization of smooth muscle differentiation of purified human skeletal muscle-derived cells.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19328794 2009 Nuclear myosin II regulates the assembly of preinitiation complex for ICAM-1 gene transcription.
19011151 2009 Myosin, transgelin, and myosin light chain kinase: expression and function in asthma.
18941465 2008 Smooth-muscle myosin mutations in hereditary non-polyposis colorectal cancer syndrome.
18798114 2008 Mutation analysis of MYH11 in acute myeloid leukemia.
18796164 2008 Somatic mutation analysis of MYH11 in breast and prostate cancer.
18391202 2008 Unregulated smooth-muscle myosin in human intestinal neoplasia.
18318008 2008 Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.
17956658 2007 Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct.
17666408 2007 MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.
17571080 2007 Comparative analysis of genes regulated in acute myelomonocytic leukemia with and without inv(16)(p13q22) using microarray techniques, real-time PCR, immunohistochemistry, and flow cytometry immunophenotyping.
17287858 2007 Rare CBFB-MYH11 fusion transcripts in AML with inv(16)/t(16;16) are associated with therapy-related AML M4eo, atypical cytomorphology, atypical immunophenotype, atypical additional chromosomal rearrangements and low white blood cell count: a study on 162 patients.
17081065 2006 Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.
16767164 2006 Identification of a region on the outer surface of the CBFbeta-SMMHC myeloid oncoprotein assembly competence domain critical for multimerization.
16504290 2006 Granulocytic sarcoma of mesentery in acute myeloid leukemia with CBFB/MYH11 fusion gene but not inv(16) chromosome: case report and review of literature.
16502584 2006 Diagnosis and monitoring of CBFB-MYH11-positive acute myeloid leukemia by qualitative and quantitative RT-PCR.
16444274 2006 Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.
16000639 2005 (+)Insert smooth muscle myosin heavy chain (SM-B) isoform expression in human tissues.
15968309 2005 [Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia].
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15585652 2005 Plag1 and Plagl2 are oncogenes that induce acute myeloid leukemia in cooperation with Cbfb-MYH11.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14627618 2003 Smooth muscle contraction and relaxation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12239155 2002 Role of Cbfb in hematopoiesis and perturbations resulting from expression of the leukemogenic fusion gene Cbfb-MYH11.
11439001 2001 Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
10998642 2000 Smooth muscle myosin heavy chain isoforms and their role in muscle physiology.
10906735 2000 Myosin heavy chain gene expression in normal and hyperplastic human prostate tissue.
10850529 2000 Intracoronary serum smooth muscle myosin heavy chain levels following PTCA may predict restenosis.
10493829 1999 Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
10048485 1998 Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
9715271 1998 The chimeric protein, PEBP2 beta/CBF beta-SMMHC, disorganizes cytoplasmic stress fibers and inhibits transcriptional activation.
9628874 1998 PRAK, a novel protein kinase regulated by the p38 MAP kinase.
8276405 1993 Smooth muscle myosin heavy chain locus (MYH11) maps to 16p13.13-p13.12 and establishes a new region of conserved synteny between human 16p and mouse 16.
8219185 1993 A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo.
7916668 1993 Human smooth muscle myosin heavy chain isoforms as molecular markers for vascular development and atherosclerosis.
7684189 1993 Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12.