Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	34350	2q31.2	TTN	titin
Mouse	-	35213	2 45.13 cM	Ttn	titin
Rat	-	-	3q23	Ttn	titin

Previous and Unofficial Names

cardiomyopathy, dilated 1G (autosomal dominant) | CMD1G | connectin | mdm | MYLK5 | shru | TMD

Database Links
Alphafold	Q8WZ42 (Hs), A2ASS6 (Mm)
BRENDA	2.7.11.1
CATH/Gene3D	2.60.40.10
Ensembl Gene	ENSG00000155657 (Hs), ENSMUSG00000051747 (Mm), ENSRNOG00000069271 (Rn)
Entrez Gene	7273 (Hs), 22138 (Mm), 84015 (Rn)
Human Protein Atlas	ENSG00000155657 (Hs)
KEGG Enzyme	2.7.11.1
KEGG Gene	hsa:7273 (Hs), mmu:22138 (Mm), rno:84015 (Rn)
OMIM	188840 (Hs)
Orphanet	ORPHA120326 (Hs)
Pharos	Q8WZ42 (Hs)
RefSeq Nucleotide	NM_001267550 (Hs), NM_011652 (Mm)
RefSeq Protein	NP_003310 (Hs), NP_035782 (Mm)
UniProtKB	Q8WZ42 (Hs), A2ASS6 (Mm)
Wikipedia	TTN (Hs)

Selected 3D Structures
	Description:  Crystal structure of the titin C-terminus in complex with obscurin-like 1. PDB Id:  3KNB Resolution:  1.4Å Species:  Human References:  2
	Description:  Crystal structure of the FnIII-tandem A77-A78 from the A-band of titin. PDB Id:  3LPW Resolution:  1.65Å Species:  Human References:  1

Enzyme Reaction
EC Number: 2.7.11.1

Clinically-Relevant Mutations and Pathophysiology
Disease:  Autosomal recessive centronuclear myopathy Synonyms: Centronuclear myopathy [Disease Ontology: DOID:14717] Disease Ontology: DOID:14717 Orphanet: ORPHA169186
Disease:  Cardiomyopathy, dilated, 1G; CMD1G Synonyms: Dilated cardiomyopathy [Disease Ontology: DOID:12930] Familial isolated dilated cardiomyopathy [Orphanet: ORPHA154] Disease Ontology: DOID:12930 OMIM: 604145 Orphanet: ORPHA154
Disease:  Cardiomyopathy, familial hypertrophic, 9; CMH9 Synonyms: Familial hypertrophic cardiomyopathy [Disease Ontology: DOID:11986] Familial isolated hypertrophic cardiomyopathy [Orphanet: ORPHA155] Disease Ontology: DOID:11986 OMIM: 613765 Orphanet: ORPHA155
Disease:  Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Orphanet: ORPHA293899
Disease:  Familial isolated arrhythmogenic ventricular dysplasia, left dominant form Orphanet: ORPHA293888
Disease:  Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Orphanet: ORPHA293910
Disease:  Hereditary myopathy with early respiratory failure Synonyms: Hereditary proximal myopathy with early respiratory failure [Orphanet: ORPHA178464] OMIM: 603689 Orphanet: ORPHA178464
Disease:  Infantile nephronophthisis Orphanet: ORPHA93591
Disease:  Muscular dystrophy, limb-girdle, type 2 Disease Ontology: DOID:11724 OMIM: 608807
Disease:  Myopathy, early-onset, with fatal cardiomyopathy Synonyms: Early-onset myopathy with fatal cardiomyopathy [Orphanet: ORPHA289377] OMIM: 611705 Orphanet: ORPHA289377
Disease:  Tibial muscular dystrophy, tardive OMIM: 600334 Orphanet: ORPHA609