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 striated 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
- 61 figures from 27 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la026999Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la027000Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| m171 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| m186 | unknown | Unknown | Unknown | ENU | |
| m242 | unknown | Unknown | Unknown | ENU | |
| m740 | unknown | Unknown | Unknown | ENU | |
| mn70 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sa787 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa1029 | Allele with one point mutation | Unknown | Nonsynonymous | ENU | |
| sa1712 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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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 |
| congenital myopathy 5 | Alliance | Congenital myopathy 5 with cardiomyopathy | 611705 |
| 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 |
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Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(ttn.2:actn2-EGFP) |
|
| 1 | (6) | |
| Tg(ttn.2:Hsa.DNAJB6-EGFP) |
|
| 1 | Ding et al., 2016 | |
| Tg(ttn.2:Hsa.DNAJB6_S316W-EGFP) |
|
| 1 | Ding et al., 2016 | |
| Tg(ttn.2:MA-EGFP) |
|
| 1 | (4) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-190I10 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-67D2 | ZFIN Curated Data | |
| Contained in | PAC | BUSM1-258D18 | ZFIN Curated Data | |
| Encodes | EST | fi04b11 | ||
| Encodes | EST | fi20g08 | ZFIN Curated Data | |
| Encodes | EST | fv57h12 | ||
| Encodes | EST | IMAGE:7148926 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7153193 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7157159 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7159525 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | GenBank:AY033829 (1) | 3828 nt | ||
| Genomic | GenBank:DQ649453 (1) | 441087 nt | ||
| Polypeptide | GenPept:ABG48500 (1) | 32757 aa |
- Jiang, X., Ly, O.T., Chen, H., Zhang, Z., Ibarra, B.A., Pavel, M.A., Brown, G.E., Sridhar, A., Tofovic, D., Swick, A., Marszalek, R., Vanoye, C.G., Navales, F., George, A.L., Khetani, S.R., Rehman, J., Gao, Y., Darbar, D., Saxena, A. (2024) Transient titin-dependent ventricular defects during development lead to adult atrial arrhythmia and impaired contractility. iScience. 27:110395110395
- Paulissen, E., Martin, B.L. (2024) A Chemically Inducible Muscle Ablation System for the Zebrafish. Zebrafish. 21(3):243-249
- Zhu, P., Li, J., Yan, F., Islam, S., Lin, X., Xu, X. (2024) Allelic heterogeneity of TTNtv cardiomyopathy can be modeled in adult zebrafish. JCI insight. 9(7):
- Hu, B., Lelek, S., Spanjaard, B., El-Sammak, H., Simões, M.G., Mintcheva, J., Aliee, H., Schäfer, R., Meyer, A.M., Theis, F., Stainier, D.Y.R., Panáková, D., Junker, J.P. (2022) Origin and function of activated fibroblast states during zebrafish heart regeneration. Nature Genetics. 54(8):1227-1237
- Paulissen, E., Martin, B.L. (2022) Myogenic regulatory factors myod and Myf5 are required for dorsal aorta formation and angiogenic sprouting. Developmental Biology. 490:134-143
- White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11:
- Katraki-Pavlou, S., Kastana, P., Bousis, D., Ntenekou, D., Varela, A., Davos, C.H., Nikou, S., Papadaki, E., Tsigkas, G., Athanasiadis, E., Herradon, G., Mikelis, C.M., Beis, D., Papadimitriou, E. (2021) Protein tyrosine phosphatase receptor zeta 1 deletion triggers defective heart morphogenesis in mice and zebrafish. American journal of physiology. Heart and circulatory physiology. 322(1):H8-H24
- Lu, S., Lyu, Z., Wang, Z., Kou, Y., Liu, C., Li, S., Hu, M., Zhu, H., Wang, W., Zhang, C., Kuan, Y.S., Liu, Y.W., Chen, J., Tian, J. (2021) Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish. Theranostics. 11:2788-2805
- Hall, T.E., Martel, N., Ariotti, N., Xiong, Z., Lo, H.P., Ferguson, C., Rae, J., Lim, Y.W., Parton, R.G. (2020) In vivo cell biological screening identifies an endocytic capture mechanism for T-tubule formation. Nature communications. 11:3711
- Ben-Yair, R., Butty, V.L., Busby, M., Qiu, Y., Levine, S.S., Goren, A., Boyer, L.A., Burns, C.G., Burns, C.E. (2019) H3K27me3-mediated silencing of structural genes is required for zebrafish heart regeneration. Development (Cambridge, England). 146(19):
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