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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	7134
Gene name	Troponin C1, slow skeletal and cardiac type
Gene symbol	TNNC1
Synonyms (NCBI Gene)	CMD1ZCMH13TN-CTNCTNNC
Chromosome	3
Chromosome location	3p21.1
Summary	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

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

695

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy	Likely pathogenic; Pathogenic	rs267607125	RCV001582477
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs267607125	RCV000618084
Dilated cardiomyopathy 1Z	Likely pathogenic; Pathogenic	rs199523612, rs1436187022, rs2471444684, rs1706370994, rs104893823, rs267607125, rs397514616	RCV001377540 RCV002250827 RCV003315276 RCV003315472 RCV000013254 RCV001034686 RCV003764652
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs267607125	RCV000824773
Hypertrophic cardiomyopathy 13	Likely pathogenic; Pathogenic	rs199523612, rs267607125, rs397514616	RCV001377540 RCV000013256 RCV000033053

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Uncertain significance	rs759472560	RCV005911260
Dilated cardiomyopathy 1S	Uncertain significance	rs1040079072, rs267607124	RCV000491866 RCV000491539
Ovarian serous cystadenocarcinoma	Likely benign	rs754800561	RCV005901729
Primary dilated cardiomyopathy	Uncertain significance	rs730880230, rs397516848, rs1578264552	RCV000157529 RCV000171845 RCV000853119
TNNC1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs759472560, rs767979684, rs760637468, rs142519988, rs150881554, rs730881061, rs113940230, rs761287435, rs1553651640, rs770331194	RCV003394002 RCV003900849 RCV003956357 RCV003965134 RCV003945221 RCV003952794 RCV003402377 RCV003942331 RCV003392398 RCV003918258

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)