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Aliases for TTN Gene

Aliases for TTN Gene

  • Titin 2 3
  • Rhabdomyosarcoma Antigen MU-RMS-40.14 3 4
  • Connectin 3 4
  • LGMD2J 3 6
  • EOMFC 3 6
  • HMERF 3 6
  • CMD1G 3 6
  • TMD 3 6
  • Cardiomyopathy, Dilated 1G (Autosomal Dominant) 2
  • EC 2.7.11.1 4
  • CMPD4 3
  • MYLK5 3
  • CMH9 3
  • MPRM 6

External Ids for TTN Gene

Previous Symbols for TTN Gene

  • CMD1G

Summaries for TTN Gene

Entrez Gene Summary for TTN Gene

  • 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. [provided by RefSeq, Feb 2012]

GeneCards Summary for TTN Gene

TTN (Titin) is a Protein Coding gene. Diseases associated with TTN include udd distal myopathy and rhabdomyosarcoma. Among its related pathways are Hemostasis and Hemostasis. GO annotations related to this gene include calcium ion binding and protein serine/threonine kinase activity. An important paralog of this gene is MYLK4.

UniProtKB/Swiss-Prot for TTN Gene

  • Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.

Gene Wiki entry for TTN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTN Gene

Genomics for TTN Gene

Genomic Location for TTN Gene

Start:
178,525,989 bp from pter
End:
178,830,802 bp from pter
Size:
304,814 bases
Orientation:
Minus strand

Genomic View for TTN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTN Gene

Regulatory Elements for TTN Gene

Proteins for TTN Gene

  • Protein details for TTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WZ42-TITIN_HUMAN
    Recommended name:
    Titin
    Protein Accession:
    Q8WZ42
    Secondary Accessions:
    • A6NKB1
    • E7EQE6
    • E7ET18
    • K7ENY1
    • Q10465
    • Q10466
    • Q15598
    • Q2XUS3
    • Q32Q60
    • Q4U1Z6
    • Q4ZG20
    • Q6NSG0
    • Q6PDB1
    • Q6PJP0
    • Q7KYM2
    • Q7KYN4
    • Q7KYN5
    • Q7LDM3
    • Q7Z2X3
    • Q8TCG8
    • Q8WZ51
    • Q8WZ52
    • Q8WZ53
    • Q8WZB3
    • Q92761
    • Q92762
    • Q9UD97
    • Q9UP84
    • Q9Y6L9

    Protein attributes for TTN Gene

    Size:
    34350 amino acids
    Molecular mass:
    3816030 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with MYOM1, MYOM2, tropomyosin and myosin. Interacts with actin, primarily via the PEVK domains and with MYPN (By similarity). Interacts with FHL2, NEB, CRYAB, LMNA/lamin-A and LMNB/lamin-B. Interacts with TCAP/telethonin and/or ANK1 isoform Mu17/ank1.5, via the first two N-terminal immunoglobulin domains. Interacts with TRIM63 and TRIM55, through several domains including immunoglobulin domains 141 and 142. Interacts with ANKRD1, ANKRD2 and ANKRD23, via the region between immunoglobulin domains 77 and 78 and interacts with CAPN3, via immunoglobulin domain 79. Interacts with NBR1 through the protein kinase domain. Interacts with CALM/calmodulin. Isoform 6 interacts with OBSCN isoform 3. Interacts with CMYA5.
    Miscellaneous:
    • In some isoforms, after the PEVK repeat region there is a long PEVK duplicated region. On account of this region, it has been very difficult to sequence the whole protein. The length of this region (ranging from 183 to 2174 residues), may be a key elastic element of titin
    SequenceCaution:
    • Sequence=AAH58824.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 553.; Evidence={ECO:0000305}; Sequence=AAH70170.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 627.; Evidence={ECO:0000305}; Sequence=CAA62188.1; Type=Frameshift; Positions=17036, 17043; Evidence={ECO:0000305}; Sequence=CAD12455.1; Type=Frameshift; Positions=17036, 17043; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TTN Gene

    Alternative splice isoforms for TTN Gene

neXtProt entry for TTN Gene

Proteomics data for TTN Gene at MOPED

Post-translational modifications for TTN Gene

  • Autophosphorylated.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys10718, Lys10733, Lys10740, Lys29566, and Lys30146

No data available for DME Specific Peptides for TTN Gene

Domains for TTN Gene

Gene Families for TTN Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FN3 :Fibronectin type III domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
IUPHAR :

UniProtKB/Swiss-Prot:

TITIN_HUMAN
Domain:
  • ZIS1 and ZIS5 regions contain multiple SPXR consensus sites for ERK- and CDK-like protein kinases as well as multiple SP motifs. ZIS1 could adopt a closed conformation which would block the TCAP-binding site:
    • Q8WZ42
  • The PEVK region may serve as an entropic spring of a chain of structural folds and may also be an interaction site to other myofilament proteins to form interfilament connectivity in the sarcomere:
    • Q8WZ42
  • Contains 132 fibronectin type-III domains.:
    • Q8WZ42
  • Contains 152 Ig-like (immunoglobulin-like) domains.:
    • Q8WZ42
  • Contains 1 protein kinase domain.:
    • Q8WZ42
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.:
    • Q8WZ42
genes like me logo Genes that share domains with TTN: view

Function for TTN Gene

Molecular function for TTN Gene

GENATLAS Biochemistry: titin,giant sarcomeric protein,extending from the M line to the Z line of striated muscle sarcomere,essential in the temporal and spatial control of the assembly of the highly ordered sarcomeres of striated muscles,responsible for the elasticity of relaxed striated muscle
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot EnzymeRegulation: Full activation of the protein kinase domain requires both phosphorylation of Tyr-32341, preventing it from blocking the catalytic aspartate residue, and binding of Ca/CALM to the C-terminal regulatory tail of the molecule which results in ATP binding to the kinase.
UniProtKB/Swiss-Prot Function: Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.

Enzyme Numbers (IUBMB) for TTN Gene

Gene Ontology (GO) - Molecular Function for TTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 9642272
GO:0003676 nucleic acid binding --
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IDA 9804419
GO:0004713 protein tyrosine kinase activity IDA 18765796
genes like me logo Genes that share ontologies with TTN: view
genes like me logo Genes that share phenotypes with TTN: view

Animal Models for TTN Gene

MGI Knock Outs for TTN:

miRNA for TTN Gene

miRTarBase miRNAs that target TTN

No data available for Transcription Factor Targeting and HOMER Transcription for TTN Gene

Localization for TTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTN Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTN Gene COMPARTMENTS Subcellular localization image for TTN gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4
extracellular 4
golgi apparatus 4
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000794 condensed nuclear chromosome IDA 9548712
GO:0005576 extracellular region TAS --
GO:0005634 nucleus --
GO:0005737 cytoplasm --
GO:0005794 Golgi apparatus --
genes like me logo Genes that share ontologies with TTN: view

Pathways for TTN Gene

genes like me logo Genes that share pathways with TTN: view

Gene Ontology (GO) - Biological Process for TTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development --
GO:0002576 platelet degranulation TAS --
GO:0003007 heart morphogenesis --
GO:0003300 cardiac muscle hypertrophy IMP 11846417
GO:0006468 protein phosphorylation --
genes like me logo Genes that share ontologies with TTN: view

Compounds for TTN Gene

(1) HMDB Compounds for TTN Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4

(24) Novoseek inferred chemical compound relationships for TTN Gene

Compound -log(P) Hits PubMed IDs
ryanodine 54.5 27
proline 43.5 8
acetylcholine 40.5 12
actomyosin 40.1 6
leupeptin 37 3
genes like me logo Genes that share compounds with TTN: view

Transcripts for TTN Gene

Unigene Clusters for TTN Gene

Titin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TTN Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a ·
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ExUns: 116 ^ 117 ^ 118 ^ 119 ^ 120 ^ 121 ^ 122 ^ 123 ^ 124 ^ 125 ^ 126 ^ 127 ^ 128 ^ 129 ^ 130 ^ 131a · 131b ^ 132a · 132b ^ 133 ^ 134 ^ 135 ^ 136 ^ 137 ^ 138 ^ 139 ^
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ExUns: 140 ^ 141a · 141b ^ 142 ^ 143 ^ 144 ^ 145 ^ 146 ^ 147 ^ 148 ^ 149 ^ 150a · 150b ^ 151a · 151b · 151c ^ 152a · 152b ^ 153a · 153b ^ 154 ^ 155 ^ 156 ^ 157 ^ 158 ^ 159 ^
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Relevant External Links for TTN Gene

GeneLoc Exon Structure for
TTN
ECgene alternative splicing isoforms for
TTN

Expression for TTN Gene

mRNA expression in normal human tissues for TTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTN Gene

This gene is overexpressed in Muscle - Skeletal (36.8), Heart - Left Ventricle (9.5), and Heart - Atrial Appendage (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TTN Gene

SOURCE GeneReport for Unigene cluster for TTN Gene Hs.134602

mRNA Expression by UniProt/SwissProt for TTN Gene

Q8WZ42-TITIN_HUMAN
Tissue specificity: Isoforms 3, 7 and 8 are expressed in cardiac muscle. Isoform 4 is expressed in vertebrate skeletal muscle. Isoform 6 is expressed in skeletal muscle (at protein level).
genes like me logo Genes that share expressions with TTN: view

Orthologs for TTN Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTN 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TTN 36
  • 88.12 (n)
  • 90.14 (a)
TTN 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTN 36
  • 90.09 (n)
  • 92.99 (a)
TTN 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttn 36
  • 86.69 (n)
  • 91.56 (a)
Ttn 16
Ttn 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTN 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttn 36
  • 79.79 (n)
  • 82.06 (a)
chicken
(Gallus gallus)
Aves TTN 36
  • 73.65 (n)
  • 75.25 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8272 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
ttna 36
  • 65.76 (n)
  • 64.05 (a)
zgc:153952 37
  • 30 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta bt 38
  • 31 (a)
CG14964 38
  • 33 (a)
sls 38
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-22 37
  • 37 (a)
OneToMany
F21C10.7 38
  • 40 (a)
F12F3.3 38
  • 23 (a)
C24G7.5 38
  • 24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEK1 37
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 45 (a)
OneToOne
Species with no ortholog for TTN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TTN Gene

ENSEMBL:
Gene Tree for TTN (if available)
TreeFam:
Gene Tree for TTN (if available)

Paralogs for TTN Gene

Paralogs for TTN Gene

Pseudogenes.org Pseudogenes for TTN Gene

genes like me logo Genes that share paralogs with TTN: view

Variants for TTN Gene

Sequence variations from dbSNP and Humsavar for TTN Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs17076 Benign 178,730,390(-) TGCTT(C/G)TTTTT intron-variant
rs746578 Benign 178,740,453(-) AGTGC(A/G/T)CTCAT synonymous-codon, reference, intron-variant
rs900772 -- 178,800,113(-) AAATC(A/G)TTCTA intron-variant
rs922984 Benign 178,751,160(+) TCATG(C/T)CCTCT intron-variant, reference, missense
rs922985 Benign 178,751,204(+) CTTCT(C/G)AAAGT intron-variant, missense, reference

Structural Variations from Database of Genomic Variants (DGV) for TTN Gene

Variant ID Type Subtype PubMed ID
nsv834467 CNV Loss 17160897
nsv834468 CNV Gain 17160897
nsv522036 CNV Gain 19592680
dgv1275e1 CNV Complex 17122850
nsv3058 CNV Insertion 18451855
nsv10202 CNV Loss 18304495
esv26878 CNV Loss 19812545
nsv821308 CNV Duplication 20802225
esv272047 CNV Insertion 20981092
nsv834470 CNV Gain 17160897
esv1134788 CNV Insertion 17803354

Relevant External Links for TTN Gene

HapMap Linkage Disequilibrium report
TTN
Human Gene Mutation Database (HGMD)
TTN
Locus Specific Mutation Databases (LSDB)
TTN

Disorders for TTN Gene

(6) OMIM Diseases for TTN Gene (188840)

UniProtKB/Swiss-Prot

TITIN_HUMAN
  • Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]: Autosomal dominant, adult-onset myopathy with early respiratory muscle involvement. {ECO:0000269 PubMed:15802564}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 9 (CMH9) [MIM:613765]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:10462489}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:11788824, ECO:0000269 PubMed:11846417, ECO:0000269 PubMed:16465475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tardive tibial muscular dystrophy (TMD) [MIM:600334]: Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later. {ECO:0000269 PubMed:12145747, ECO:0000269 PubMed:12891679}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Limb-girdle muscular dystrophy 2J (LGMD2J) [MIM:608807]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Early-onset myopathy with fatal cardiomyopathy (EOMFC) [MIM:611705]: Early-onset myopathies are inherited muscle disorders that manifest typically from birth or infancy with hypotonia, muscle weakness, and delayed motor development. EOMFC is a titinopathy that, in contrast with the previously described examples, involves both heart and skeletal muscle, has a congenital onset, and is purely recessive. This phenotype is due to homozygous out-of-frame TTN deletions, which lead to a total absence of titins C-terminal end from striated muscles and to secondary CAPN3 depletion. {ECO:0000269 PubMed:17444505}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(41) Novoseek inferred disease relationships for TTN Gene

Disease -log(P) Hits PubMed IDs
lgmd2a 80.4 8
lgmd2g 78.1 3
myasthenia gravis 75.5 29
thymoma 73.5 44
muscular dystrophy limb-girdle 72.8 4

Relevant External Links for TTN

GeneTests
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GeneReviews
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Genetic Association Database (GAD)
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Human Genome Epidemiology (HuGE) Navigator
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Publications for TTN Gene

  1. Titins, giant proteins in charge of muscle ultrastructure and elasticity. (PMID: 7569978) Labeit S. … Kolmerer B. (Science 1995) 3 4 23
  2. Titin antibodies in myasthenia gravis: identification of a major immunogenic region of titin. (PMID: 8351016) Gautel M. … Aarli J.A. (Neurology 1993) 3 4 23
  3. The central Z-disk region of titin is assembled from a novel repeat in variable copy numbers. (PMID: 8937992) Gautel M. … Furst D.O. (J. Cell Sci. 1996) 3 4 23
  4. The three-dimensional structure of a type I module from titin: a prototype of intracellular fibronectin type III domains. (PMID: 9782056) Goll C.M. … Nilges M. (Structure 1998) 3 4 23
  5. Structural basis for activation of the titin kinase domain during myofibrillogenesis. (PMID: 9804419) Mayans O. … Gautel M. (Nature 1998) 3 4 23

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