Ttn Gene Summary [Mouse]
Enables ankyrin binding activity. Involved in heart development; regulation of relaxation of cardiac muscle; and somitogenesis. Acts upstream of or within several processes, including forward locomotion; heart development; and sarcomere organization. Located in M band and Z disc. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart; lung; and musculature. Used to study autosomal recessive limb-girdle muscular dystrophy type 2J; dilated cardiomyopathy 1G; and tibial muscular dystrophy. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human TTN (titin). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ttn |
| Official Name | titin [Source:MGI Symbol;Acc:MGI:98864] |
| Ensembl ID | ENSMUSG00000051747 |
| Bio databases IDs | |
| Aliases | titin |
| Synonyms | 1100001C23Rik, 2310036G12RIK, 2310057K23RIK, 2310074I15RIK, 2610301F02RIK, AF006999, CMD1G, CMH9, CMPD4, CMYO5, CMYP5, CONNECTIN, D330041I19Rik, D830007G01RIK, EOMFC, HMERF, L56, LGMD2J, LGMDR10, mdm, MYLK5, SALMY, shru, Titin, TMD |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ttn often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Titin Z
- protein serine/threonine kinase
- protein kinase regulator
- Fibronectin type 3 domain
- Protein kinase domain
- protein-tyrosine kinase
- PPAK motif
- identical protein binding
- PEVK motif
- Z-repeat
- Cornifin (SPRR) family
- cytoskeletal protein binding
- structural constituent of cytoskeleton
- ankyrin binding
- Immunoglobulin like
- Treacher Collins syndrome protein Treacle
- immunoglobulin-like protein domain
- intervening region
- Tyrosine kinase, catalytic domain
- Immunoglobulin V-set domain
- Tri-helix bundle domain
- Immunoglobulin C1-set domain
- Zq domain
- Protein kinase (unclassified specificity)
- protein kinase binding
- protease binding
- calmodulin binding
- Protein tyrosine and serine/threonine kinase
- immunoglobulin domain
- actinin binding
- Immunoglobulin I-set domain
- enzyme binding
- calcium ion binding
- protein binding
- kinase
- actin filament binding
- Serine/Threonine protein kinases, catalytic domain
- Mex5 domain
- kinase domain
- Protein Kinases, catalytic domain
- structural constituent of muscle
- FN3
- protein homodimerization
- N2A domain
- N2b spring domain
- structural molecule
- N2B unique sequence
Pathways
Biological processes and signaling networks where the Ttn gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- heart failure
- cardiomyopathy
- diastolic dysfunction
- dilated cardiomyopathy 1g
- limb-girdle muscular dystrophy type 2J
- primary dilated cardiomyopathy
- dilated cardiomyopathy 1A
- hypertrophic cardiomyopathy
- major depression
- cap-myopathy with arthrogryposis multiplex congenita without heart involvement
role in cell
- activation in
- expression in
- apoptosis
- differentiation
- proliferation
- growth
- formation
- quantity
- development
- sliding
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Extracellular Space
- sarcomere
- cytosol
- chromosome
- myofibrils
- I band
- m-bands
- Z line
- actin stress fibers
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ttn gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitotic chromosome condensation
- skeletal muscle thin filament assembly
- sarcomere organization
- cardiac muscle contraction
- striated muscle contraction
- cardiac muscle hypertrophy
- sarcomerogenesis
- positive regulation of gene expression
- muscle contraction
- response to calcium ion
- protein kinase A signaling cascade
- cardiac muscle cell development
- cardiac myofibril assembly
- skeletal muscle myosin thick filament assembly
- positive regulation of protein secretion
- detection of muscle stretch
- cardiac muscle tissue morphogenesis
Cellular Component
Where in the cell the gene product is active
- Z disc
- extracellular vesicular exosome
- I band
- cytosol
- M band
- extracellular region
- condensed nuclear chromosome
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- identical protein binding
- protein homodimerization activity
- actinin binding
- muscle alpha-actinin binding
- protease binding
- protein serine/threonine kinase activity
- actin filament binding
- ATP binding
- calmodulin binding
- protein tyrosine kinase activity
- structural constituent of muscle
- protein binding
- calcium ion binding
- protein kinase regulator activity
- telethonin binding
- enzyme binding