Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7134
Gene name Gene Name - the full gene name approved by the HGNC.	Troponin C1, slow skeletal and cardiac type
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TNNC1
Synonyms (NCBI Gene) Gene synonyms aliases	CMD1Z, CMH13, TN-C, TNC, TNNC
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.1
Summary Summary of gene provided in NCBI Entrez Gene.	Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding si

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893823	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs267607123	A>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs267607124	G>A,C,T	Pathogenic, likely-pathogenic, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs267607126	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514616	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs730881058	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs730881059	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs730881061	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs730881062	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs876661393	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs886039440	C>A	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017278	hsa-miR-335-5p	Microarray	18185580
MIRT627389	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT627388	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT627387	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT627386	hsa-miR-3137	HITS-CLIP	23824327
MIRT627385	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT627384	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT627383	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT627382	hsa-miR-3686	HITS-CLIP	23824327
MIRT627381	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT627380	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT627389	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT627388	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT627387	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT627386	hsa-miR-3137	HITS-CLIP	23824327
MIRT627385	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT627384	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT627383	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT627382	hsa-miR-3686	HITS-CLIP	23824327
MIRT627381	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT627380	hsa-miR-4652-3p	HITS-CLIP	23824327

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002086	Process	Diaphragm contraction	IEA
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	12840750, 18092822
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10806205, 12840750, 21988832, 24333682, 29997244, 32296183, 33961781
GO:0005829	Component	Cytosol	TAS
GO:0005861	Component	Troponin complex	IDA	10850966, 12093807
GO:0006937	Process	Regulation of muscle contraction	IDA	18092822
GO:0006937	Process	Regulation of muscle contraction	IEA
GO:0006937	Process	Regulation of muscle contraction	TAS	2250022
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0010038	Process	Response to metal ion	IEA
GO:0014883	Process	Transition between fast and slow fiber	IEA
GO:0030017	Component	Sarcomere	NAS	12840750
GO:0030049	Process	Muscle filament sliding	NAS	12840750
GO:0031013	Function	Troponin I binding	IBA
GO:0031013	Function	Troponin I binding	IDA	18092822
GO:0031013	Function	Troponin I binding	IPI	7957210, 11735257, 15542288
GO:0031014	Function	Troponin T binding	IPI	8205619, 15542288
GO:0032972	Process	Regulation of muscle filament sliding speed	IEA
GO:0032972	Process	Regulation of muscle filament sliding speed	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	18092822
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	IBA
GO:0048306	Function	Calcium-dependent protein binding	IPI	7957210
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	15542288
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IDA	25771144
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	15542288
GO:0060048	Process	Cardiac muscle contraction	NAS	12840750
GO:0086003	Process	Cardiac muscle cell contraction	IEA
GO:0086003	Process	Cardiac muscle cell contraction	ISS
GO:1990584	Component	Cardiac Troponin complex	IBA
GO:1990584	Component	Cardiac Troponin complex	IDA	25771144
GO:1990584	Component	Cardiac Troponin complex	IEA
GO:1990584	Component	Cardiac Troponin complex	IPI	12840750

MIM	HGNC	e!Ensembl
191040	11943	ENSG00000114854

Protein

UniProt ID

P63316

Protein name

Troponin C, slow skeletal and cardiac muscles (TN-C)

Protein function

Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium t

PDB

1AP4 , 1IH0 , 1J1D , 1J1E , 1LXF , 1MXL , 1OZS , 1SPY , 1WRK , 1WRL , 2JT0 , 2JT3 , 2JT8 , 2JTZ , 2JXL , 2KDH , 2KFX , 2KGB , 2KRD , 2L1R , 2L98 , 2MKP , 2MLE , 2MLF , 2MZP , 2N79 , 2N7L , 3RV5 , 3SD6 , 3SWB , 4GJE , 4GJF , 4GJG , 4Y99 , 5VLN , 5W88 , 5WCL , 6KN7 , 6KN8 , 6MV3 , 7JGI , 7SC2 , 7SC3 , 7SUP , 7SVC , 7SWG , 7SWI , 7SXC , 7SXD , 7UH9 , 7UHA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13833	EF-hand_8	32 → 84	EF-hand domain pair	Domain
PF13499	EF-hand_7	94 → 158	EF-hand domain pair	Domain
PF00036	EF-hand_1	132 → 160	EF hand	Domain

Sequence

MDDIYKAAVEQLTEEQKNEFKAAFDIFVLGAEDGCISTKELGKVMRMLGQNPTPEELQEM
IDEVDEDGSGTVDFDEFLVMMVRCMKDDSKGKSEEELSDLFRMFDKNADGYIDLDELKIM
LQATGETITEDDIEELMKDGDKNNDGRIDYDEFLEFMKGVE

Sequence length

161

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
cardiomyopathy	Cardiomyopathy	rs267607125	N/A
Dilated Cardiomyopathy	Dilated cardiomyopathy 1Z	rs104893823, rs267607125	N/A
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	rs267607125	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Ventricular Cardiomyopathy	arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Non Small Cell Lung	Associate	32946432
Cardiomyopathies	Associate	22194935, 33179204, 34502534, 36814108
Cardiomyopathy Dilated	Associate	15542288, 20215591, 26458567, 31983221, 33947203, 36814108
Cardiomyopathy Hypertrophic	Associate	16302972, 19439414, 20459070, 21896538, 22515980, 22815480, 25342278, 28386062, 28771489, 30681346, 36814108, 37466024, 39971408
Cardiomyopathy Restrictive	Associate	34502534
Colorectal Neoplasms	Associate	39494275
Crisponi syndrome	Associate	31748410
Death	Associate	15542288, 33179204
Death Sudden Cardiac	Associate	22815480
Diabetic Cardiomyopathies	Stimulate	37355664
familial dilated cardiomyopathy	Associate	15542288, 20215591
Heart Failure	Associate	15542288, 39276349
Hypertrophy Left Ventricular	Associate	30681346
Infant Death	Associate	36814108
Isolated Noncompaction of the Ventricular Myocardium	Associate	33179204, 34502534
LEOPARD Syndrome	Associate	33179204
Lung Neoplasms	Associate	32946432
Lymphatic Metastasis	Associate	27713166
Neoplasm Metastasis	Associate	27713166
Neoplasms	Stimulate	39494275
Ovarian Neoplasms	Associate	25277212, 33592378
Squamous Cell Carcinoma of Head and Neck	Associate	27713166, 39757032
Stillbirth	Associate	36814108
Tongue Neoplasms	Associate	27713166
Ventricular Fibrillation	Associate	22815480, 33179204

TNNC1 (troponin C1, slow skeletal and cardiac type)