TNNC1 (troponin C1, slow skeletal and cardiac type)

2016-01-01 Affiliation

Identity

HGNC

TNNC1

LOCATION

3p21.1

LOCUSID

7134

ALIAS

CMD1Z,CMH13,TN-C,TNC,TNNC

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7134
MIM: 191040
HGNC: 11943
Ensembl: ENSG00000114854

Variants:

dbSNP: 7134
ClinVar: 7134
TCGA: ENSG00000114854
COSMIC: TNNC1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000114854	ENST00000232975	P63316
ENSG00000114854	ENST00000232975	Q6FH91
ENSG00000114854	ENST00000496590	C9JDI3

Expression (GTEx)

1000

2000

3000

4000

5000

6000

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

Pathway	Source	External ID
Calcium signaling pathway	KEGG	ko04020
Calcium signaling pathway	KEGG	hsa04020
Cardiac muscle contraction	KEGG	hsa04260
Cardiac muscle contraction	KEGG	ko04260
Hypertrophic cardiomyopathy (HCM)	KEGG	ko05410
Hypertrophic cardiomyopathy (HCM)	KEGG	hsa05410
Dilated cardiomyopathy	KEGG	ko05414
Dilated cardiomyopathy	KEGG	hsa05414
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
Muscle contraction	REACTOME	R-HSA-397014
Striated Muscle Contraction	REACTOME	R-HSA-390522

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20215591	2010	Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.	86
20215591	2010	Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.	86
17446435	2007	The troponin C G159D mutation blunts myofilament desensitization induced by troponin I Ser23/24 phosphorylation.	72
20031618	2009	Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.	52
18572189	2008	Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.	51
19439414	2009	A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.	43
25277212	2014	Calcium-dependent FAK/CREB/TNNC1 signalling mediates the effect of stromal MFAP5 on ovarian cancer metastatic potential.	40
22675533	2012	Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.	33
16302972	2005	Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.	32
18063575	2008	Structural kinetics of cardiac troponin C mutants linked to familial hypertrophic and dilated cardiomyopathy in troponin complexes.	32

Citation

Dessen P

TNNC1 (troponin C1, slow skeletal and cardiac type)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55584/tnnc1