Ttn - titin Gene
Also Known as L56; mdm; shru; 1100001C23Rik; 2310036G12Rik; 2310057K23Rik; 2310074I15Rik; D330041I19Rik; D830007G01Rik
Species: Mus musculus
Summary
Enables ankyrin binding activity. Involved in regulation of relaxation of cardiac muscle. Acts upstream of or within several processes, including chordate embryonic development; forward locomotion; and heart development. Located in M band and Z disc. Is expressed in several structures, including diaphragm; embryo mesenchyme; heart; musculature; and tarsus. 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, Apr 2022]
Ttn Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001385708.1 | NP_001372637.1 | titin isoform 3 |
| NM_011652.3 | NP_035782.3 | titin isoform N2-A |
| NM_028004.2 | NP_082280.2 | titin isoform N2-B |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ankyrin binding |
IPI
IPI: Inferred from physical interaction
|
18310072 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14741210 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in A band |
IDA
IDA: Inferred from direct assay
|
16481394 | MGI |
| located in I band |
IDA
IDA: Inferred from direct assay
|
16481394 | MGI |
| located in M band |
IDA
IDA: Inferred from direct assay
|
15138196 | MGI |
| located in Z disc |
IDA
IDA: Inferred from direct assay
|
15138196 | MGI |
| located in sarcomere |
IDA
IDA: Inferred from direct assay
|
12651156 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
titin |
|