Gene

ttn.1

ID
ZDB-GENE-030616-413
Name
titin, tandem duplicate 1
Symbol
ttn.1 Nomenclature History
Previous Names
  • TTN1 (1)
  • ttnb
  • ttnl
  • hm:zeh1256r
  • im:6911926
  • si:dZ167C3.1
  • si:dz249n21.1
  • wu:fc09a12
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to have actin filament binding activity and muscle alpha-actinin binding activity. Involved in myofibril assembly and skeletal muscle tissue development. Predicted to localize to M band; Z disc; and striated muscle thin filament. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Is expressed in several structures, including cardiovascular system; floor plate; mesoderm; musculature system; and pectoral fin. Orthologous to human TTN (titin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
74 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
12 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ttn.1 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
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
tibial muscular dystrophy Alliance Tibial muscular dystrophy, tardive 600334
Associated With ttn.1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations