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Aliases for TTN Gene

Aliases for TTN Gene

  • Titin 2 3 3 5
  • Rhabdomyosarcoma Antigen MU-RMS-40.14 3 4
  • Connectin 3 4
  • Cardiomyopathy, Dilated 1G (Autosomal Dominant) 2
  • EC 2.7.11.1 4
  • LGMD2J 3
  • CMPD4 3
  • EOMFC 3
  • HMERF 3
  • MYLK5 3
  • CMD1G 3
  • CMH9 3
  • TMD 3

External Ids for TTN Gene

Previous HGNC Symbols for TTN Gene

  • CMD1G

Previous GeneCards Identifiers for TTN Gene

  • GC02M177454
  • GC02M178061
  • GC02M179355
  • GC02M179593
  • GC02M179216
  • GC02M179098
  • GC02M171261

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 Myopathy, Proximal, With Early Respiratory Muscle Involvement and Tibial Muscular Dystrophy, Tardive. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Cardiac conduction. GO annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is OBSCN.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTN Gene

Genomics for TTN Gene

Regulatory Elements for TTN Gene

Enhancers for TTN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G178862 1.2 Ensembl ENCODE dbSUPER 11.5 -33.7 -33749 3.4 NFIA NFIB SIN3A ATF2 EP300 ZFHX2 NFIC JUND IKZF1 FOS RNU7-104P TTN CCDC141 PRKRA GC02P178916
GH02G178858 0.8 ENCODE dbSUPER 11.5 -29.0 -28969 1.9 CTCF ZNF316 JUND MAFG MAFK RNU7-104P TTN CCDC141 OSBPL6 GC02P178916
GH02G178882 0.8 Ensembl ENCODE 10.2 -52.2 -52226 0.9 GATA2 JUN HLF FOS RNU7-104P TTN CCDC141 PRKRA ENSG00000270574 GC02P178916
GH02G179237 1.4 Ensembl ENCODE dbSUPER 4 -408.2 -408228 3.8 ELF3 FEZF1 ZBTB40 RAD21 ZNF48 RARA FOS ETV6 CREM MIXL1 SESTD1 TTN GC02P179234
GH02G178801 0.2 dbSUPER 11.5 +28.6 28586 2.1 RNU7-104P TTN RPS6P2 LOC101927055 LOC105373766
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTN on UCSC Golden Path with GeneCards custom track

Genomic Location for TTN Gene

Chromosome:
2
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

Genes around TTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TTN Gene

  • Autophosphorylated.
  • Ubiquitination at Lys10718, isoforms=11, 12, 13, 2, 4, 5, 7, 810733, isoforms=11, 12, 13, 2, 4, 5, 7, 810740, Lys29566, and isoforms=10, 11, 12, 13, 2, 3, 4, 5, 7, 8, 930146
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTN Gene

Domains & Families for TTN Gene

Suggested Antigen Peptide Sequences for TTN Gene

Graphical View of Domain Structure for InterPro Entry

Q8WZ42

UniProtKB/Swiss-Prot:

TITIN_HUMAN :
  • 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.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
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.
  • 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.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
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:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,IDA 9804419
GO:0004713 protein tyrosine kinase activity IDA 18765796
GO:0005509 calcium ion binding IDA 7607248
genes like me logo Genes that share ontologies with TTN: view
genes like me logo Genes that share phenotypes with TTN: view

Human Phenotype Ontology for TTN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TTN Gene

MGI Knock Outs for TTN:

Animal Model Products

CRISPR Products

miRNA for TTN Gene

miRTarBase miRNAs that target TTN

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTN gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 2
endoplasmic reticulum 2
mitochondrion 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 IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TTN: view

Pathways & Interactions 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:0002576 platelet degranulation TAS --
GO:0003300 cardiac muscle hypertrophy IMP 11846417
GO:0006468 protein phosphorylation IEA --
GO:0006936 muscle contraction TAS 11911777
GO:0006941 striated muscle contraction TAS 7569978
genes like me logo Genes that share ontologies with TTN: view

No data available for SIGNOR curated interactions for TTN Gene

Drugs & Compounds for TTN Gene

(13) Drugs for TTN Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0

(12) Additional Compounds for TTN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TTN: view

Transcripts for TTN Gene

Unigene Clusters for TTN Gene

Titin:
Representative Sequences:

CRISPR Products

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: 68 ^ 69 ^ 70 ^ 71 ^ 72 ^ 73 ^ 74 ^ 75 ^ 76 ^ 77 ^ 78 ^ 79 ^ 80 ^ 81 ^ 82 ^ 83a · 83b ^ 84 ^ 85 ^ 86 ^ 87 ^ 88 ^ 89 ^ 90 ^ 91 ^ 92 ^
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ExUns: 93 ^ 94a · 94b ^ 95 ^ 96a · 96b · 96c ^ 97 ^ 98 ^ 99 ^ 100 ^ 101 ^ 102 ^ 103 ^ 104 ^ 105 ^ 106 ^ 107 ^ 108 ^ 109 ^ 110 ^ 111 ^ 112 ^ 113 ^ 114 ^ 115 ^
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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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x36.8), Heart - Left Ventricle (x9.5), and Heart - Atrial Appendage (x4.9).

Protein differential expression in normal tissues from HIPED for TTN Gene

This gene is overexpressed in Heart (52.8) and Fetal heart (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TTN Gene



NURSA nuclear receptor signaling pathways regulating expression of TTN Gene:

TTN

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).

Evidence on tissue expression from TISSUES for TTN Gene

  • Heart(5)
  • Muscle(5)
  • Liver(3.2)
  • Lung(3)
  • Nervous system(2.6)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TTN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TTN: view

Primer Products

No data available for Protein tissue co-expression partners for TTN Gene

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 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTN 34 35
  • 90.09 (n)
cow
(Bos Taurus)
Mammalia TTN 34 35
  • 88.12 (n)
mouse
(Mus musculus)
Mammalia Ttn 34 16 35
  • 86.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TTN 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttn 34
  • 79.79 (n)
chicken
(Gallus gallus)
Aves TTN 34
  • 73.65 (n)
zebrafish
(Danio rerio)
Actinopterygii ttna 34
  • 65.76 (n)
zgc:153952 35
  • 30 (a)
ManyToMany
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8272 34
fruit fly
(Drosophila melanogaster)
Insecta CG14964 36
  • 33 (a)
bt 36
  • 31 (a)
sls 36
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea F21C10.7 36
  • 40 (a)
unc-22 35
  • 37 (a)
OneToMany
C24G7.5 36
  • 24 (a)
F12F3.3 36
  • 23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEK1 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for TTN was found in the sources mined by GeneCards:
  • 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

Variants for TTN Gene

Sequence variations from dbSNP and Humsavar for TTN Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs138060032 Pathogenic, Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689] 178,799,566(+) CTGCC(A/G)AGCCA reference, missense
rs139517732 Pathogenic, Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145] 178,802,273(+) CTGCA(C/T)GCCGG reference, missense
rs149061352 Uncertain significance, A colorectal adenocarcinoma sample 178,785,717(+) TTTCC(A/G/T)TTGTT reference, missense
rs199642423 Uncertain significance, Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145] 178,532,705(+) TACGC(C/T)GGCGG intron-variant, reference, missense
rs199684560 A gastric adenocarcinoma sample 178,633,512(+) GCGGC(A/G)CAGGC reference, missense

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

Variant ID Type Subtype PubMed ID
dgv2101n106 CNV tandem duplication 24896259
esv1134788 CNV insertion 17803354
esv26878 CNV loss 19812545
esv2759103 CNV loss 17122850
esv3307773 CNV mobile element insertion 20981092
esv3327293 CNV insertion 20981092
esv3389257 CNV insertion 20981092
esv3411437 CNV insertion 20981092
esv3584195 CNV loss 25503493
esv3584196 CNV loss 25503493
esv3593492 CNV loss 21293372
nsv1000642 CNV loss 25217958
nsv10202 CNV loss 18304495
nsv3058 CNV insertion 18451855
nsv522036 CNV gain 19592680
nsv583754 CNV loss 21841781
nsv583755 CNV loss 21841781
nsv821308 CNV duplication 20802225
nsv834467 CNV loss 17160897
nsv834468 CNV gain 17160897
nsv834470 CNV gain 17160897
nsv954437 CNV duplication 24416366
nsv961536 CNV duplication 23825009

Variation tolerance for TTN Gene

Residual Variation Intolerance Score: 99.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 42.91; 100.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTN Gene

Human Gene Mutation Database (HGMD)
TTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTN Gene

Disorders for TTN Gene

MalaCards: The human disease database

(61) MalaCards diseases for TTN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, proximal, with early respiratory muscle involvement
  • hereditary myopathy with early respiratory failure
tibial muscular dystrophy, tardive
  • tibial muscular dystrophy
muscular dystrophy, limb-girdle, type 2j
  • autosomal recessive limb-girdle muscular dystrophy type 2j
myopathy, early-onset, with fatal cardiomyopathy
  • early-onset myopathy with fatal cardiomyopathy
cardiomyopathy, dilated, 1g
  • dilated cardiomyopathy 1g
- elite association - COSMIC cancer census association via MalaCards
Search TTN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TITIN_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.
  • 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. {ECO:0000269 PubMed:12145747}. 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.

Relevant External Links for TTN

Genetic Association Database (GAD)
TTN
Human Genome Epidemiology (HuGE) Navigator
TTN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTN
genes like me logo Genes that share disorders with TTN: view

No data available for Genatlas for TTN Gene

Publications for TTN Gene

  1. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID: 19608031) Arimura T. … Kimura A. (J. Am. Coll. Cardiol. 2009) 3 22 46 64
  2. Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. (PMID: 16465475) Matsumoto Y. … Kimura A. (J. Muscle Res. Cell Motil. 2005) 3 4 22 64
  3. Association of the chaperone alphaB-crystallin with titin in heart muscle. (PMID: 14676215) Bullard B. … Linke W.A. (J. Biol. Chem. 2004) 3 4 22 64
  4. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. (PMID: 11788824) Gerull B. … Thierfelder L. (Nat. Genet. 2002) 3 4 22 64
  5. Titin mutations as the molecular basis for dilated cardiomyopathy. (PMID: 11846417) Itoh-Satoh M. … Kimura A. (Biochem. Biophys. Res. Commun. 2002) 3 4 22 64

Products for TTN Gene