TNNT3 (troponin T3, fast skeletal type)

Gene

• Entrez ID: 7140
• Gene name: Troponin T3, fast skeletal type
• Gene symbol: TNNT3
• Synonyms (NCBI Gene): DA2B2, TNTF, beta-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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 600692
• HGNC: 11950
• e!Ensembl: ENSG00000130595

Protein

• UniProt ID: 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

Pathways

KEGG:

Motor proteins
Cytoskeleton in muscle cells

Reactome:

Striated Muscle Contraction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arthrogryposis, distal, type 2B2	Pathogenic; Likely pathogenic	rs1855785074, rs199474721, rs121434638	RCV001329619 RCV001526467 RCV000009468 RCV000787280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sheldon-Hall syndrome	Likely pathogenic; Pathogenic	rs121434638, rs199474721	RCV006270336 RCV006270340	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Arthrogryposis multiplex congenita	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Arthrogryposis multiplex congenita distal	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGITOTALAR DYSMORPHISM	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis type 2B1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIES, NEMALINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline myopathy	Conflicting classifications of pathogenicity	ClinVar ClinGen, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TNNT3-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	12592607, 19142688		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	15704180		★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	BEFREE	19142688, 23850728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	GENOMICS_ENGLAND_DG	19142688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	ORPHANET_DG	23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	GENOMICS_ENGLAND_DG	12592607, 17194691, 19142688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	BEFREE	19142688, 21402185		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	ORPHANET_DG	23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	20453838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	20453838, 32366738	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	21834041	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	19142688		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	21834041	Associate	★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Digitotalar Dysmorphism	Digitotalar Dysmorphism	ORPHANET_DG	23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of eye	Disorder Of Eye	BEFREE	27121343		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	BEFREE	16802141, 19142688, 29266598		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis type 1	Distal arthrogryposis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis type 2B	Distal arthrogryposis	Pubtator	19142688	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	BEFREE	19142688, 23850728		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27121343		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36701711	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	20453838		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	BEFREE	27507886		★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	29266598	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	29266598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	20066428	Associate	★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nemaline myopathy 5	Nemaline myopathy	Pubtator	29266598	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34588385	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sheldon-Hall syndrome	Sheldon-Hall Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes Equinovalgus	Talipes Equinovalgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	BEFREE	21402185		★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only