TCAP (titin-cap)

2003-12-01  

Identity

HGNC
LOCATION
17q12
LOCUSID
ALIAS
CMD1N,CMH25,LGMD2G,LGMDR7,T-cap,TELE,telethonin
FUSION GENES

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

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
155823182004Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.70
155823182004Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.70
194123282008Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.67
196795662009Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.37
184080102008A mutation in telethonin alters Nav1.5 function.27
165312342006Mechanical strength of the titin Z1Z2-telethonin complex.25
116998712001Telethonin and other new proteins of the Z-disc of skeletal muscle.21
204740832010A novel custom resequencing array for dilated cardiomyopathy.20
124466662003Solution scattering suggests cross-linking function of telethonin in the complex with titin.17
150108122004Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon.16

Citation

Dessen P

TCAP (titin-cap)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

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