|
Gene id |
7273 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TTN Gene UCSC Ensembl |
|
Aliases |
CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, LGMDR10, MYLK5, SALMY, TMD |
|
Gene name |
titin |
|
Alternate names |
titin, connectin, rhabdomyosarcoma antigen MU-RMS-40.14, |
|
Gene location |
2q31.2 (178807422: 178525988) Exons: 365 NC_000002.12
|
|
Gene summary(Entrez) |
This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunog
|
|
OMIM |
188840 |
|
| Pathway id | Pathway name |
|---|
| hsa05414 | Dilated cardiomyopathy | | hsa05410 | Hypertrophic cardiomyopathy | |
|
| Associated diseases |
References |
| Limb-girdle muscular dystrophy | KEGG:H00593 |
| Dilated cardiomyopathy | KEGG:H00294 |
| Hypertrophic cardiomyopathy | KEGG:H00292 |
| Distal myopathy | KEGG:H00594 |
| Tibial muscular dystrophy | KEGG:H01976 |
| Limb-girdle muscular dystrophy | KEGG:H00593 |
| Dilated cardiomyopathy | KEGG:H00294 |
| Hypertrophic cardiomyopathy | KEGG:H00292 |
| Distal myopathy | KEGG:H00594 |
| Tibial muscular dystrophy | KEGG:H01976 |
| Cardiomyopathy | PMID:15345656 |
| Cardiomyopathy | PMID:27869827 |
| Coronary artery disease | PMID:12221049 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
|