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TTN

Chr 2q31.2

titin

Aliases:
CMPD4, FLJ32040, TMD, CMH9, LGMD2J
MANE:
ENST00000589042.5
OMIM: 188840 ↗NCBI: 7273 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal

  • Congenital myopathy

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Dilated and arrhythmogenic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Dilated Cardiomyopathy and conduction defects

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Distal myopathies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • dilated cardiomyopathy

    0.84

  • dilated cardiomyopathy 1G

    0.83

  • cardiomyopathy

    0.79

  • tibial muscular dystrophy

    0.79

  • early-onset myopathy with fatal cardiomyopathy

    0.78

  • myopathy, myofibrillar, 9, with early respiratory failure

    0.78

  • autosomal recessive limb-girdle muscular dystrophy type 2J

    0.77

  • hypertrophic cardiomyopathy 9

    0.76

  • atrial fibrillation

    0.75

  • heart failure

    0.72

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Titin

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

Diseases associated with TTN

Curated MONDO disease pages that list TTN among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.