Human Gene TTN (ENST00000589042.5_9) from GENCODE V47lift37
  Description: titin, transcript variant IC (from RefSeq NM_001267550.2)
Gencode Transcript: ENST00000589042.5_9
Gencode Gene: ENSG00000155657.29_16
Transcript (Including UTRs)
   Position: hg19 chr2:179,390,716-179,672,150 Size: 281,435 Total Exon Count: 363 Strand: -
Coding Region
   Position: hg19 chr2:179,391,739-179,669,369 Size: 277,631 Coding Exon Count: 362 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:179,390,716-179,672,150)mRNA (may differ from genome)Protein (35991 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TTN
Diseases sorted by gene-association score: tibial muscular dystrophy, tardive* (1650), myopathy, proximal, with early respiratory muscle involvement* (1650), muscular dystrophy, limb-girdle, type 2j* (1367), salih myopathy* (1350), cardiomyopathy, dilated, 1g* (1247), cardiomyopathy, familial hypertrophic, 9* (1229), childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome* (350), myopathy, centronuclear, autosomal recessive* (247), autosomal recessive limb-girdle muscular dystrophy* (207), muscular dystrophy, rigid spine, 1* (204), myopathy* (198), dilated cardiomyopathy* (182), familial isolated arrhythmogenic ventricular dysplasia, right dominant form* (157), familial isolated arrhythmogenic ventricular dysplasia, biventricular form* (157), familial isolated arrhythmogenic ventricular dysplasia, left dominant form* (157), familial isolated dilated cardiomyopathy* (101), ttn-related dilated cardiomyopathy* (100), ttn-related familial hypertrophic cardiomyopathy* (100), cardiomyopathy, familial hypertrophic* (43), respiratory failure (32), cardiomyopathy (23), myasthenia gravis (16), reducing body myopathy (16), cortical thymoma (16), thymoma (16), morvan's fibrillary chorea (13), rippling muscle disease (11), myopathy, myofibrillar, 3 (11), dendritic cell thymoma (11), granulomatous myositis (10), lambert-eaton myasthenic syndrome (10), myositis (10), peripartum cardiomyopathy (10), muscular dystrophy, limb-girdle, type 2a (10), autosomal recessive limb-girdle muscular dystrophy type 2h (10), centronuclear myopathy (9), muscular dystrophy-dystroglycanopathy , type c, 5 (9), distal muscular dystrophy (9), muscular dystrophy (8), muscle disorders (8), lung large cell carcinoma (8), rhabdomyosarcoma (8), asphyxia neonatorum (7), neuromuscular junction disease (6), restrictive cardiomyopathy (6), newborn respiratory distress syndrome (6), cardiomyopathy, hypertrophic, 4 (6), myofibrillar myopathy (6), intrinsic cardiomyopathy (5), heart disease (5), myopathy, spheroid body (4), duchenne muscular dystrophy (4), arrhythmogenic right ventricular cardiomyopathy (3), neuromuscular disease (3), primary cutaneous amyloidosis (1), left ventricular noncompaction (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 204.71 RPKM in Muscle - Skeletal
Total median expression: 315.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -89.50225-0.398 Picture PostScript Text
3' UTR -256.101023-0.250 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK129531 - Homo sapiens cDNA FLJ26020 fis, clone PCD01884, highly similar to Homo sapiens titin (TTN), transcript variant N2-B.
X90568 - H.sapiens mRNA for titin protein (clone hh1-hh54).
AK129856 - Homo sapiens cDNA FLJ26346 fis, clone HRT04038, highly similar to Homo sapiens titin (TTN), transcript variant N2-B.
X90569 - H.sapiens mRNA for titin protein (clone hsk1-hsk19).
BC030823 - Homo sapiens titin, mRNA (cDNA clone IMAGE:4246573).
BC026297 - Homo sapiens titin, mRNA (cDNA clone IMAGE:4271100).
AK125056 - Homo sapiens cDNA FLJ43066 fis, clone BRTHA3008608, highly similar to Homo sapiens partial TTN gene for titin.
AL713647 - Homo sapiens mRNA; cDNA DKFZp451A172 (from clone DKFZp451A172).
X69490 - H.sapiens mRNA for titin.
BC107797 - Homo sapiens titin, mRNA (cDNA clone IMAGE:4271154), partial cds.
JD334263 - Sequence 315287 from Patent EP1572962.
JD186984 - Sequence 168008 from Patent EP1572962.
JD046483 - Sequence 27507 from Patent EP1572962.
JD503548 - Sequence 484572 from Patent EP1572962.
JD455968 - Sequence 436992 from Patent EP1572962.
JD044540 - Sequence 25564 from Patent EP1572962.
JD259449 - Sequence 240473 from Patent EP1572962.
JD067093 - Sequence 48117 from Patent EP1572962.
JD491063 - Sequence 472087 from Patent EP1572962.
JD301058 - Sequence 282082 from Patent EP1572962.
JD083960 - Sequence 64984 from Patent EP1572962.
X64697 - H.sapiens mRNA titin (subclone C37).
JX424570 - Homo sapiens Titin mRNA, partial cds.
AK091732 - Homo sapiens cDNA FLJ34413 fis, clone HEART2002717, highly similar to H.sapiens mRNA for titin protein (clone hh1-hh54).
X64698 - H.sapiens mRNA titin (subclone C26/C18).
AK096883 - Homo sapiens cDNA FLJ39564 fis, clone SKMUS2001199, highly similar to H.sapiens mRNA for titin protein3.
DL492529 - Novel nucleic acids.
DL490998 - Novel nucleic acids.
EU428784 - Homo sapiens titin (TTN) mRNA, partial cds.
DQ248309 - Homo sapiens rhabdomyosarcoma antigen MU-RMS-40.14 mRNA, partial cds.
AK129919 - Homo sapiens cDNA FLJ26409 fis, clone HRT09310, highly similar to Homo sapiens titin (TTN), transcript variant N2-B.
AF525413 - Homo sapiens cardiac titin N2BA isoform (TTN) mRNA, partial cds.
EF212153 - Homo sapiens cellular titin isoform PEVK variant 1 mRNA, partial cds, alternatively spliced.
EF212154 - Homo sapiens cellular titin isoform PEVK variant 2 mRNA, partial cds, alternatively spliced.
AF321609 - Homo sapiens titin (TTN) mRNA, partial cds.
AX721216 - Sequence 176 from Patent WO0220754.
EF212156 - Homo sapiens cellular titin isoform PEVK variant 4 mRNA, partial cds, alternatively spliced.
EF212155 - Homo sapiens cellular titin isoform PEVK variant 3 mRNA, partial cds, alternatively spliced.
BC017983 - Homo sapiens cDNA clone IMAGE:4245816, containing frame-shift errors.
X83270 - H.sapiens mRNA for titin, partial CDS.
AK056602 - Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.
X98114 - Homo sapiens mRNA for cardiac titin, clone ZisS.
X98115 - H.sapiens mRNA for cardiac titin, clone ZisL.
BC070170 - Homo sapiens titin, mRNA (cDNA clone IMAGE:4271838), partial cds.
BC058824 - Homo sapiens titin, mRNA (cDNA clone IMAGE:4288662), partial cds.
BC013396 - Homo sapiens titin, mRNA (cDNA clone IMAGE:3532073), complete cds.
BC029400 - Homo sapiens titin, mRNA (cDNA clone IMAGE:4288214), with apparent retained intron.
JD184639 - Sequence 165663 from Patent EP1572962.
JD328078 - Sequence 309102 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0A0MTS7, A0A0A0MTS7_HUMAN, ENST00000589042.1, ENST00000589042.2, ENST00000589042.3, ENST00000589042.4, NM_001267550, TTN , uc326tia.1, uc326tia.2
UCSC ID: ENST00000589042.5_9
RefSeq Accession: NM_001267550.2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TTN:
dcm-ov (Dilated Cardiomyopathy Overview)
hmerf (Hereditary Myopathy with Early Respiratory Failure)
hyper-card (Hypertrophic Cardiomyopathy Overview)
salih-myo (Salih Myopathy)
udd (Udd Distal Myopathy - Tibial Muscular Dystrophy)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.