TCAP (titin-cap)

2003-12-01  

Identity

HGNC
TCAP
LOCATION
17q12
LOCUSID
8557
ALIAS
CMD1N,CMH25,LGMD2G,LGMDR7,T-cap,TELE,telethonin
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8557
MIM: 604488
HGNC: 11610
Ensembl: ENSG00000173991

Variants:

dbSNP: 8557
ClinVar: 8557
TCGA: ENSG00000173991
COSMIC: TCAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173991ENST00000309889O15273
ENSG00000173991ENST00000309889A2TDC0
ENSG00000173991ENST00000578283J3KT40

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
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
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
372166482023The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.1
377525892023TCAP gene is not a common cause of cardiomyopathy in Iranian patients.0
372166482023The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.1
377525892023TCAP gene is not a common cause of cardiomyopathy in Iranian patients.0
327615392021Distal myopathy due to TCAP variants in four unrelated Chinese patients.2
327615392021Distal myopathy due to TCAP variants in four unrelated Chinese patients.2
325650612020Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy.4
325884372020Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na(v) 1.5 currents in HEK-293 cells.4
325650612020Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy.4
325884372020Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na(v) 1.5 currents in HEK-293 cells.4
299359942018Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.3
299359942018Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.3
288112662017Expression and purification of a difficult sarcomeric protein: Telethonin.2
288112662017Expression and purification of a difficult sarcomeric protein: Telethonin.2
242802202014Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes.24

Citation

Dessen P

TCAP (titin-cap)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/42487