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. Involved in several processes, including heart contraction; myofibril assembly; and striated muscle tissue development. Predicted to localize to nucleosome and plasma membrane. Is expressed in cardiovascular system; mesoderm; musculature system; pectoral fin; and somite. 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
Expression
All Expression Data
60 figures from 26 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
40 figures from 14 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ttn.2 Human Ortholog
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
Salih myopathy 611705
Associated With ttn.2 Via Experimental Models
Gene Ontology
Protein Domains
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
Family IPR039696 Microfibril-associated glycoprotein 3-like
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
Repeat IPR015129 Titin, Z repeat
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 Microfibril-associated glycoprotein 3-like MyBP-C, tri-helix bundle domain Protein kinase domain Protein kinase-like domain superfamily Titin, Z repeat Tyrosine-protein kinase, active site
UniProtKB:Q8QFW2 636
UniProtKB:B0S757 400
UniProtKB:A5X6X5 32757
UniProtKB:F1QZQ0 22089
UniProtKB:B0S758 7601
UniProtKB:Q90X22 1276
UniProtKB:F1R7N8 26265
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-ttn monoclonal Mouse
  • IHC
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations