TTN (titin)

2003-11-01  

Identity

HGNC
TTN
LOCATION
2q31.2
LOCUSID
7273
ALIAS
CMD1G,CMH9,CMPD4,EOMFC,HMERF,LGMD2J,LGMDR10,MYLK5,SALMY,TMD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7273
MIM: 188840
HGNC: 12403
Ensembl: ENSG00000155657

Variants:

dbSNP: 7273
ClinVar: 7273
TCGA: ENSG00000155657
COSMIC: TTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155657ENST00000342175A0A0A0MRA3
ENSG00000155657ENST00000342992Q8WZ42
ENSG00000155657ENST00000359218Q8WZ42
ENSG00000155657ENST00000360870Q8WZ42
ENSG00000155657ENST00000412264C9JQJ2
ENSG00000155657ENST00000414766H7C1P9
ENSG00000155657ENST00000425332H7C0U7
ENSG00000155657ENST00000426232H0Y4J7
ENSG00000155657ENST00000436599A0A0C4DG59
ENSG00000155657ENST00000446966A0A1B0GXE3
ENSG00000155657ENST00000448510H7C195
ENSG00000155657ENST00000460472Q8WZ42
ENSG00000155657ENST00000589042A0A0A0MTS7
ENSG00000155657ENST00000591111Q8WZ42
ENSG00000155657ENST00000634225A0A0U1RRH3

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
372219342024Severe cardiac conduction disease associated with titin gene mutation.0
372303142024Left Atrial Function in Patients with Titin Cardiomyopathy.1
379355682024Titin copy number variations associated with dominant inherited phenotypes.0
379629572024Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.2
379996652024Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy.0
381480062024Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy.0
381555932024Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.0
382037442024The Utility of Urinary Titin to Diagnose and Predict the Prognosis of Acute Myocardial Infarction.0
382266182024TTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance.1
383817672024The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice.0
384294952024Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.2
384307012024Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.0
386664712024TTN Mutation in Endometrial Endometrioid Carcinoma Is Associated with Poor Clinical Outcomes and High Tumor Mutation Burden.0
389377332024Identification of four TTN variants in three families with fetal akinesia deformation sequence.0
372219342024Severe cardiac conduction disease associated with titin gene mutation.0

Citation

Dessen P

TTN (titin)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42726/deep-insight-explorer/favicon/manifest.json