Gene
ttn.2
- ID
- ZDB-GENE-030113-2
- Name
- titin, tandem duplicate 2
- Symbol
- ttn.2 Nomenclature History
- Previous Names
-
- TTN2 (1)
- ttn
- ttna
- pickwick
- pik
- si:busm1-258d18.1
- si:dz258d18.1
- wu:fi04b11
- wu:fi20g08
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- A structural constituent of muscle. Acts upstream of or within several processes, including heart contraction; myofibril assembly; and skeletal muscle tissue development. Is active in centriole; cytoplasm; and nucleus. Is expressed in several structures, including cardiovascular system; mesoderm; musculature system; somite; and testis. Used to study atrial fibrillation and dilated cardiomyopathy. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human TTN (titin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 60 figures from 26 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7148926 (11 images)
- IMAGE:7159525 (15 images)
- IMAGE:7157159 (18 images)
- IMAGE:7153193 (16 images)
Wild Type Expression Summary
- All Phenotype Data
- 41 figures from 15 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2J | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 10 | 608807 |
| dilated cardiomyopathy 1G | Alliance | Cardiomyopathy, dilated, 1G | 604145 |
| hypertrophic cardiomyopathy 9 | Alliance | Cardiomyopathy, familial hypertrophic, 9 | 613765 |
| myofibrillar myopathy 9 | Alliance | Myopathy, myofibrillar, 9, with early respiratory failure | 603689 |
| tibial muscular dystrophy | Alliance | Tibial muscular dystrophy, tardive | 600334 |
| Congenital myopathy 5 with cardiomyopathy | 611705 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008266 | Tyrosine-protein kinase, active site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin subtype |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR013106 | Immunoglobulin V-set domain |
| Domain | IPR040849 | MyBP-C, tri-helix bundle domain |
| Family | IPR005819 | Linker histone H1/H5 |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
| Homologous_superfamily | IPR036397 | Ribonuclease H superfamily |
Domain Details Per Protein
| Protein | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype | Immunoglobulin subtype 2 | Immunoglobulin V-set domain | Linker histone H1/H5 | MyBP-C, tri-helix bundle domain | Protein kinase domain | Protein kinase-like domain superfamily | Ribonuclease H superfamily | Tyrosine-protein kinase, active site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B0S757
|
400 | |||||||||||||||
|
UniProtKB:A5X6X5
|
32757 | |||||||||||||||
|
UniProtKB:F1QZQ0
|
22089 | |||||||||||||||
|
UniProtKB:Q90X22
|
1276 | |||||||||||||||
|
UniProtKB:F1R7N8
|
26265 | |||||||||||||||
|
UniProtKB:B0S758
|
7601 | |||||||||||||||
|
UniProtKB:Q8QFW2
|
636 |
Interactions and Pathways
No data available
Plasmids
No data available