Gene: TTN-AS1

Alternate names for this Gene: -

Gene Summary: This gene encodes a non-coding RNA transcribed from the opposite strand to the titin gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.2

Description of this Gene: TTN antisense RNA 1

Type of Gene: ncRNA

Gene: TTN

Alternate names for this Gene: CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|LGMDR10|MYLK5|SALMY|TMD

Gene Summary: This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.2

Description of this Gene: titin

Type of Gene: protein-coding

rs35504893 in TTN-AS1;TTN gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

rs1064793814 in TTN-AS1;TTN gene and Cardiomyopathy, Dilated PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 26735901 2016 Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 23418287 2013 Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

rs1060500503 in TTN-AS1;TTN gene and Cardiomyopathy, Dilated, 1g PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

PMID 23975875 2013 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

PMID 27813223 2017 Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.

PMID 25163546 2015 Atlas of the clinical genetics of human dilated cardiomyopathy.

PMID 24395473 2014 Atypical phenotypes in titinopathies explained by second titin mutations.

PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 17444505 2007 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 16465475 2005 Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.

PMID 11846417 2002 Titin mutations as the molecular basis for dilated cardiomyopathy.

PMID 11788824 2002 Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

PMID 25739468 2015 Biophysical characterization of naturally occurring titin M10 mutations.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

PMID 15728284 2005 Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

PMID 28416588 2017 Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

PMID 26735901 2016 Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

PMID 28045975 2017 Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

PMID 26315439 2015 HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.

PMID 24105469 2014 Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

PMID 27868403 2017 Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene.

PMID 28611029 2017 Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

PMID 23486992 2014 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

PMID 22526018 2012 Next generation sequencing for molecular diagnosis of neuromuscular diseases.

PMID 25500009 2015 New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.

PMID 24636144 2014 Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.

PMID 23606733 2014 Hereditary myopathy with early respiratory failure: occurrence in various populations.

PMID 28877744 2017 Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

PMID 25214167 2014 MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

PMID 24980681 2014 A rising titan: TTN review and mutation update.

PMID 24444549 2014 A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

rs794729338 in TTN-AS1;TTN gene and Centronuclear myopathy PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

rs922984 in TTN-AS1;TTN gene and Electrocardiogram: P-R interval PMID 30046033 2018 PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

rs200655768 in TTN-AS1;TTN gene and Epstein-Barr Virus Infections PMID 28654678 2017 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples.

rs753334568 in TTN-AS1;TTN gene and Hereditary Myopathy with Early Respiratory Failure PMID 24231549 2014 Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

PMID 23486992 2014 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

PMID 23606733 2014 Hereditary myopathy with early respiratory failure: occurrence in various populations.

rs11902709 in TTN-AS1;TTN gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs1060500503 in TTN-AS1;TTN gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J PMID 23975875 2013 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

PMID 27813223 2017 Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.

PMID 25163546 2015 Atlas of the clinical genetics of human dilated cardiomyopathy.

PMID 24395473 2014 Atypical phenotypes in titinopathies explained by second titin mutations.

PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 17444505 2007 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 25739468 2015 Biophysical characterization of naturally occurring titin M10 mutations.

PMID 15728284 2005 Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

PMID 26735901 2016 Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

PMID 28416588 2017 Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

PMID 28045975 2017 Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

PMID 26315439 2015 HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.

PMID 24105469 2014 Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

PMID 28611029 2017 Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

PMID 27868403 2017 Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene.

PMID 23606733 2014 Hereditary myopathy with early respiratory failure: occurrence in various populations.

PMID 22526018 2012 Next generation sequencing for molecular diagnosis of neuromuscular diseases.

PMID 25500009 2015 New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.

PMID 23486992 2014 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

PMID 24636144 2014 Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.

PMID 28877744 2017 Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

PMID 25214167 2014 MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

PMID 24980681 2014 A rising titan: TTN review and mutation update.

PMID 24444549 2014 A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

rs1553485330 in TTN-AS1;TTN gene and Multiple congenital anomalies PMID 10462489 1999 Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.

PMID 11717165 2001 The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system.

PMID 24395473 2014 Atypical phenotypes in titinopathies explained by second titin mutations.

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 23418287 2013 Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

PMID 17444505 2007 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 1745277 1991 Muscular dystrophy with separate clinical phenotypes in a large family.

PMID 21810661 2011 Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.

PMID 24105469 2014 Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

PMID 21617319 2011 Contribution of genetic factors to the pathogenesis of dilated cardiomyopathy: the cause of dilated cardiomyopathy: genetic or acquired? (genetic-side).

PMID 23518707 2013 Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

PMID 12669942 2003 Left ventricular systolic dysfunction and ischemic cardiomyopathy.

rs267607156 in TTN-AS1;TTN gene and TIBIAL MUSCULAR DYSTROPHY, TARDIVE PMID 12891679 2003 Tibial muscular dystrophy in a Belgian family.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

rs35770984 in TTN-AS1;TTN gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.