full name
titin

synonyms
CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, MYLK5, TMD, TTN, ENSG00000155657

HGNC
HGNC:12403

Entrez Gene
Gene:7273

ENSEMBL
ENSG00000155657

location
chr: 2
start: 179390716
stop: 179672150
strand: -

OMIM
OMIM:188840: TTN (Autosomal dominant inheritance)
OMIM:604145: Cardiomyopathy, dilated, 1G
OMIM:613765: Cardiomyopathy, familial hypertrophic, 9
OMIM:608807: Muscular dystrophy, limb-girdle, autosomal recessive 10
OMIM:603689: Myopathy, myofibrillar, 9, with early respiratory failure
OMIM:611705: Salih myopathy
OMIM:600334: Tibial muscular dystrophy, tardive

transcripts
NM_003319.4
NM_133437.3
NM_133432.3
NM_133378.4
NM_001256850.1
NM_001267550.1
NM_133379.4

pathways
Dilated cardiomyopathy [NCBI:121494] [KEGG:hsa05414] [PUBMED:11524405] [PUBMED:11805847] [PUBMED:12270949] [PUBMED:14522402] [PUBMED:19017683] [PUBMED:15146239] [PUBMED:18672201] [PUBMED:19273156] [PUBMED:19246813] [PUBMED:11716909] [PUBMED:16817756]
Hemostasis [NCBI:1269340] [REACTOME:R-HSA-109582]
Hypertrophic cardiomyopathy (HCM) [NCBI:114229] [KEGG:hsa05410] [PUBMED:11805847] [PUBMED:18572189] [PUBMED:14711353] [PUBMED:19136482] [PUBMED:18056765] [PUBMED:11225594] [PUBMED:12844200] [PUBMED:10615904] [PUBMED:11716909] [PUBMED:11371514] [PUBMED:12270949]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Platelet activation, signaling and aggregation [NCBI:1269350] [REACTOME:R-HSA-76002] [PUBMED:16543958] [PUBMED:8704248] [PUBMED:2018971] [PUBMED:1672265] [PUBMED:17059469] [PUBMED:12681240] [PUBMED:12411949] [PUBMED:11511514]
Platelet degranulation [NCBI:1269367] [REACTOME:R-HSA-114608] [PUBMED:14630798]
Response to elevated platelet cytosolic Ca2+ [NCBI:1269365] [REACTOME:R-HSA-76005] [PUBMED:8424766]
Striated Muscle Contraction [NCBI:1269869] [REACTOME:R-HSA-390522] [PUBMED:15173217] [PUBMED:13165697] [PUBMED:15173218] [PUBMED:13175187]