titin

Summary
Gene Symbol
  • TTN
Organism
Homo sapiens (human)
NCBI Gene
7273
PubChem
7273
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Alternative splicing
  • Calcium
  • Calmodulin-binding
  • Cardiomyopathy
  • Coiled coil
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Immunoglobulin domain
  • Limb-girdle muscular dystrophy
  • Magnesium
  • Metal-binding
  • Myofibrillar myopathy
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Serine/threonine-protein kinase
Proteins
Displaying all 4 entries
UniProt Protein Name
A0A0A0MTS7
Q7Z3B7
A0A0A0MRA3
Q8WZ42
  • Connectin
  • Rhabdomyosarcoma antigen MU-RMS-40.14
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Down syndrome cell adhesion molecule-like protein
Functional Category
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 10 entries
DO ID Disease Name Source
DOID:0060224 atrial fibrillation
DOID:0081341 congenital myopathy 5
DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J
DOID:0110315 hypertrophic cardiomyopathy 9
DOID:0110430 dilated cardiomyopathy 1G
DOID:0111078 tibial muscular dystrophy
DOID:0111188 myofibrillar myopathy 9
DOID:12930 dilated cardiomyopathy
DOID:3393 coronary artery disease
DOID:5844 myocardial infarction

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024