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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7140
Gene name	Troponin T3, fast skeletal type
Gene symbol	TNNT3
Synonyms (NCBI Gene)	DA2B2TNTFbeta-TnTF
Chromosome	11
Chromosome location	11p15.5
Summary	The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin fila

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434638	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs199474721	C>T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, 5 prime UTR variant, missense variant

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments
MIRT2354018	hsa-miR-1184	CLIP-seq
MIRT2354019	hsa-miR-1205	CLIP-seq
MIRT2354020	hsa-miR-1301	CLIP-seq
MIRT2354021	hsa-miR-27a	CLIP-seq
MIRT2354022	hsa-miR-27b	CLIP-seq
MIRT2354023	hsa-miR-3158-5p	CLIP-seq
MIRT2354024	hsa-miR-4660	CLIP-seq
MIRT2354025	hsa-miR-5047	CLIP-seq
MIRT2354026	hsa-miR-513a-5p	CLIP-seq
MIRT2354027	hsa-miR-544	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	IDA	17194691
GO:0003779	Function	Actin binding	IDA	17194691
GO:0005523	Function	Tropomyosin binding	IBA
GO:0005523	Function	Tropomyosin binding	IDA	9724539
GO:0005523	Function	Tropomyosin binding	IEA
GO:0005523	Function	Tropomyosin binding	IMP	8987992
GO:0005829	Component	Cytosol	TAS
GO:0005861	Component	Troponin complex	IBA
GO:0005861	Component	Troponin complex	IDA	8987992, 9724539, 17194691
GO:0005861	Component	Troponin complex	IEA
GO:0006937	Process	Regulation of muscle contraction	IEA
GO:0006941	Process	Striated muscle contraction	IEA
GO:0006942	Process	Regulation of striated muscle contraction	IDA	17194691
GO:0030172	Function	Troponin C binding	IBA
GO:0030172	Function	Troponin C binding	IEA
GO:0030172	Function	Troponin C binding	IPI	8987992, 9724539
GO:0031013	Function	Troponin I binding	IBA
GO:0031013	Function	Troponin I binding	IEA
GO:0031013	Function	Troponin I binding	IPI	8987992, 15507453, 17194691
GO:0043462	Process	Regulation of ATP-dependent activity	IDA	17194691
GO:0045214	Process	Sarcomere organization	IBA
GO:0048306	Function	Calcium-dependent protein binding	IDA	8987992
GO:1903612	Process	Positive regulation of calcium-dependent ATPase activity	IDA	8987992, 9724539

MIM	HGNC	e!Ensembl
600692	11950	ENSG00000130595

P45378

Protein name

Troponin T, fast skeletal muscle (TnTf) (Beta-TnTF) (Fast skeletal muscle troponin T) (fTnT)

Protein function

Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00992	Troponin	73 → 209	Troponin	Family

Tissue specificity

TISSUE SPECIFICITY: In fetal and adult fast skeletal muscles, with a higher level expression in fetal than in adult muscle.

Sequence

MSDEEVEQVEEQYEEEEEAQEEAAEVHEEVHEPEEVQEDTAEEDAEEEKPRPKLTAPKIP
EGEKVDFDDIQKKRQNKDLMELQALIDSHFEARKKEEEELVALKERIEKRRAERAEQQRI
RAEKERERQNRLAEEKARREEEDAKRRAEDDLKKKKALSSMGANYSSYLAKADQKRGKKQ
TAREMKKKILAERRKPLNIDHLGEDKLRDKAKELWETLHQLEIDKFEFGEKLKRQKYDIT
TLRSRIDQAQKHSKKAGTPAKGKVGGRWK

Sequence length

269

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Cytoskeleton in muscle cells		Striated Muscle Contraction

105

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis, distal, type 2B2	Pathogenic; Likely pathogenic	rs1855785074, rs199474721, rs121434638	RCV001329619 RCV001526467 RCV000009468 RCV000787280
Sheldon-Hall syndrome	Likely pathogenic; Pathogenic	rs121434638, rs199474721	RCV006270336 RCV006270340

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Arthrogryposis multiplex congenita	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs76471485, rs143255528, rs147535560, rs202175253, rs200739738, rs374137056, rs201336939, rs140388684, rs574250591, rs886048104, rs367932695, rs753756081, rs114407235, rs757234740, rs184687090 View all (5 more)	RCV000331506 RCV000321824 RCV000338606 RCV000353956 RCV000274334 RCV000285416 RCV000384456 RCV000379080 RCV000346957 RCV000392505 RCV000290644 RCV000362568 RCV000301561 RCV000318809 RCV000347825 RCV000406375 RCV000391778 RCV000314991 RCV000307192 RCV000325482
Arthrogryposis multiplex congenita distal	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs143255528, rs202175253, rs200739738, rs374137056, rs201336939, rs140388684, rs574250591, rs886048104, rs879755445, rs367932695, rs753756081, rs886048105, rs114407235, rs757234740, rs184687090 View all (5 more)	RCV000264326 RCV000306102 RCV000357414 RCV000342706 RCV000327607 RCV000286943 RCV000289620 RCV000352685 RCV000404462 RCV000382694 RCV000270354 RCV000312907 RCV000392508 RCV000261308 RCV000399278 RCV000355644 RCV000298429 RCV000296303 RCV000310949 RCV000373168
Distal arthrogryposis type 2B1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs1855793483, rs370243709, rs76471485, rs147535560, rs879755445, rs886048105, rs200540491, rs188255267, rs766691409, rs544425439, rs16927166, rs4727, rs755143093, rs1161353535, rs775584381 View all (3 more)	RCV001329620 RCV001337000 RCV000388403 RCV000281179 RCV000359765 RCV000391788 RCV000351478 RCV000392840 RCV000276212 RCV000364223 RCV000367927 RCV000613906 RCV001108018 RCV001102796 RCV001104719 RCV001104720 RCV001108124 RCV001104721
Nemaline myopathy	Conflicting classifications of pathogenicity	rs113617037	RCV006257387
TNNT3-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs372620292, rs771716631, rs374430284, rs1854400472, rs200739738, rs753515620, rs2494989411, rs765275660, rs149996049, rs1130395	RCV003941098 RCV003911102 RCV003971106 RCV003427790 RCV003920253 RCV003952110 RCV003966896 RCV003424045 RCV003923101 RCV003933110

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthrogryposis multiplex congenita distal type 1	Associate	17103435, 19142688, 21834041, 29266598, 34766372
Breast Neoplasms	Associate	20453838, 32366738
Clubfoot	Associate	21834041
Contracture	Associate	21834041
Distal arthrogryposis type 2B	Associate	19142688
Fetal akinesia syndrome X linked	Associate	32779773
Freeman Sheldon syndrome	Associate	19142688
Laryngeal Neoplasms	Associate	36701711
Myopathies Nemaline	Associate	29266598
Myotonic Dystrophy	Associate	20066428
Nemaline myopathy 5	Associate	29266598
Neoplasms	Associate	32366738
Obesity	Associate	34588385

TNNT3 (troponin T3, fast skeletal type)