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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TNNT2 Gene

protein-coding GIFtS: 67
GCID: GC01M201328

troponin T type 2 (cardiac)

(Previous names: troponin T2, cardiac, cardiomyopathy, hypertrophic 2 )
(Previous symbol: CMH2)

Explore 37 diseases affiliated with
TNNT2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Troponin T Type 2 (Cardiac)¹ ²		RCM3² ⁵
CMH2¹ ² ⁵		CMPD2²
Cardiomyopathy, Hypertrophic 2¹ ²		TnTC²
Troponin T2, Cardiac¹ ²		Cardiomyopathy, Dilated 1D (Autosomal Dominant)²
Cardiac Muscle Troponin T² ³		Troponin T, Cardiac Muscle²
CTnT¹		TnTc³
LVNC6² ⁵		CMD1D⁵

External Ids:	HGNC: 11949¹	Entrez Gene: 7139²	Ensembl: ENSG00000118194⁷	OMIM: 191045⁵	UniProtKB: P45379³

Export aliases for TNNT2 gene to outside databases

Previous GC identifers: GC01P199302 GC01P197036 GC01M197794 GC01M198616 GC01M198059 GC01M199594 GC01M172495

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TNNT2:

The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the

thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium

ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as

with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many

tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined.

(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379

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

Gene Wiki entry for TNNT2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TNNT2 gene promoter:
MZF-1 AML1a Tal-1 Lmo2 Pax-4a YY1 E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TNNT2 promoter sequence

Search SABiosciences Chromatin IP Primers for TNNT2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TNNT2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32 Ensembl cytogenetic band: 1q32.1 HGNC cytogenetic band: 1q32

TNNT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNNT2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M201328: view genomic region (about GC identifiers)

Start:	201,328,136 bp from pter	End:	201,346,890 bp from pter
Size:	18,755 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379 (See protein sequence)

Recommended Name: Troponin T, cardiac muscle

Size: 298 amino acids; 35924 Da

2 PDB 3D structures from and Proteopedia for TNNT2:

1J1D (3D)

1J1E (3D)

Secondary accessions: A2TDB9 A8K3K6 O60214 Q99596 Q99597 Q9BUF6 Q9UM96

Alternative splicing: 11 isoforms: P45379-1 P45379-2 P45379-3 P45379-4 P45379-5 P45379-6 P45379-7 P45379-8

P45379-9 P45379-10 P45379-11 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TNNT2: NX_P45379

Post-translational modifications:

Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin

ATPase activity (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P45379

TNNT2 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins (7 alternative transcripts):

NP_000355.2 NP_001001430.1 NP_001001431.1 NP_001001432.1 NP_001263274.1 NP_001263275.1 NP_001263276.1

ENSEMBL proteins:

ENSP00000356291 ENSP00000356287 ENSP00000356289 ENSP00000422031 ENSP00000414036

ENSP00000402238 ENSP00000395163 ENSP00000408731 ENSP00000387874 ENSP00000404134

ENSP00000236918 ENSP00000356286 ENSP00000356284 ENSP00000353535

Reactome Protein details: P45379
Human Recombinant Protein Products:

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	Novus Biologicals TNNT2 Proteins Novus Biologicals TNNT2 Lysates
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	Uscn Proteins for TNNT2

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005861	troponin complex	IDA	12093807
GO:0005865	striated muscle thin filament	IDA	12186860
GO:0030017	sarcomere	TAS	16754800

TNNT2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TNNT2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TNNT2 for domains About GeneDecksing

1 InterPro domain/family:

IPR001978 Troponin

Graphical View of Domain Structure for InterPro Entry P45379

ProtoNet protein and cluster: P45379

1 Blocks protein family: IPB001978 Troponin

UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379

Similarity: Belongs to the troponin T family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379

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

Genatlas biochemistry entry for TNNT2:

troponin T2,component of the troponin complex forming the calcium-sensitive molecular switch that regulates striated

muscle contraction in response to modifications in intracellular concentration,cardiac muscle,regulating striated

muscle contraction in response to alterations in intracellular calcium concentration,including multiple

isoforms,involved in the attachment of the complex to tropomyosin and troponin I

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		hsa-miR-4302 hsa-miR-3119
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNT2

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IDA	8205619
GO:0005200	structural constituent of cytoskeleton	IEA	--
GO:0005523	tropomyosin binding	IDA	10850966
GO:0016887	contributes to ATPase activity	IDA	12093807
GO:0030172	troponin C binding	IPI	15542288

TNNT2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for TNNT2: Tnnt2^tm1Feah Tnnt2^tm1Mmto
     7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Tnnt2):

cardiovascular system	embryogenesis	growth/size	homeostasis/metabolism	mortality/aging
muscle	normal

TNNT2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87

Hypertrophic cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM)

1.00

Dilated cardiomyopathy

0.75

PKA activation in glucagon signalling

Development_Beta-adrenergic receptors signaling via cAMP

0.29

Development Beta-adrenergic receptors signaling via cAMP

0.29

Cytoskeletal Signaling

Cytoskeletal Signaling

1.00

Cardiac muscle contraction

Cardiac muscle contraction

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for TNNT2

Development Beta-adrenergic receptors signaling via cAMP

1 Cell Signaling Technology (CST) Pathway for TNNT2

Cytoskeletal Signaling

1 GeneGo (Thomson Reuters) Pathway for TNNT2

Development Beta-adrenergic receptors signaling via cAMP

1 BioSystems Pathway for TNNT2

Striated Muscle Contraction

2 Reactome Pathways for TNNT2

	Muscle contraction
	Striated Muscle Contraction

3 Kegg Pathways (Kegg details for TNNT2):

	Cardiac muscle contraction
	Hypertrophic cardiomyopathy (HCM)
	Dilated cardiomyopathy

TNNT2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TNNT2

5/7 Interacting proteins for TNNT2 (P45379³) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TNNI3	P19429³	I2D: score=3
MAP2K5	Q13163³	I2D: score=2
TNNC1	P63316³	I2D: score=2
TPM1	P09493³	I2D: score=2
MAP3K5	Q99683³	I2D: score=1

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006200	ATP catabolic process	IDA	2530435
GO:0006937	regulation of muscle contraction	--	--
GO:0008016	regulation of heart contraction	IMP	15542288
GO:0030049	muscle filament sliding	TAS	--
GO:0032780	negative regulation of ATPase activity	IDA	12093807

TNNT2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TNNT2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TNNT2

1 HMDB Compound for TNNT2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

7 Novoseek chemical compound relationships for TNNT2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
creatinine	60.9	57	14691043 (2), 15387448 (2), 19177312 (2), 10498300 (1) (see all 37)
heparin	15.2	5	15387448 (2), 9470339 (1), 9469256 (1)
fatty acid	11.7	2	17926199 (1), 18999883 (1)
ptca	11.3	2	11208396 (2)
lactate	7.86	2	10498300 (1), 16388789 (1)
glycogen	3.87	1	18999883 (1)
alanine	0	1	14662251 (1)

Search CenterWatch for drugs/clinical trials and news about TNNT2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TNNT2 gene (7 alternative transcripts):

NM_000364.3 NM_001001430.2 NM_001001431.2 NM_001001432.2 NM_001276345.1 NM_001276346.1 NM_001276347.1

Unigene Cluster for TNNT2:

Troponin T type 2 (cardiac)

Hs.533613 [show with all ESTs]

Unigene Representative Sequence: AL832707

18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):

ENST00000367322(uc001gwg.3 uc001gwh.3 uc009wzr.3) ENST00000491504

ENST00000367318(uc021phc.1) ENST00000460780(uc009wzp.3) ENST00000476888(uc009wzn.3 uc009wzo.3)

ENST00000367320 ENST00000509001(uc009wzt.1) ENST00000479297 ENST00000438742

ENST00000515042(uc009wzs.1) ENST00000477035 ENST00000466570(uc001gwk.1)

ENST00000455702(uc001gwl.1) ENST00000503459 ENST00000422165 ENST00000412633

ENST00000445079 ENST00000475686

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		hsa-miR-4302 hsa-miR-3119
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Additional cDNA sequence:

AK290621.1 AK309493.1 AL832707.1 AY277394.1 BC002653.2 L40162.1 S64668.1 X74819.1

X79855.1 X79856.1 X79858.1 X79859.1 X79861.1 X83743.1 X83744.1

18 DOTS entries:

DT.118095 DT.121454721 DT.100754093 DT.91695044 DT.100655158 DT.40208592 DT.99954344 DT.121454688

DT.95158177 DT.92424285 DT.95158176 DT.102842687 DT.121454692 DT.40208593 DT.87016979 DT.92424281

DT.95158182 DT.121454687

24/147 AceView cDNA sequences (see all 147):

CA438630 X79858 NM_001001431 C05166 NM_001001432 T28266 NM_000364 AJ709042

AA362046 AY277394 AJ706904 AJ709472 CF551854 AA416535 AJ708802 C04252

AI367750 AK055533 C05420 C04915 AI567465 CF552185 AJ706907 AL832707

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TNNT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGCATTTTG

About this image

TNNT2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

8 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Myocardium

Myocardium

Cardiac Crescent Cells

Myocardium

Epicardium

Primitive Heart Tube Cells

Myocardium

Adipose

Thoracic Perivascular Adipose

Adipose

Heart

Left Atrium

Heart

Right Atrium

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/23 LifeMap Cells (see all 23)

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

Yolk sac (Scl -/-) (Primary Cell)

Extraembryonic Tissues

Late limb mesenchymal cells (LLM cells) (Primary Cell)

Bone, Cartilage, Limb

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Cardiomyocyte-like cells (Cardiomyocyte genera...)

Cardiac mesoderm embryoid bodies (Cardiomyocyte genera...)

Cardiomyocyte-like progenitor cells (Derivation of cardio...)

Genevestigator expression for TNNT2

SOURCE GeneReport for Unigene cluster: Hs.533613

UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379

Tissue specificity: Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the

adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult

heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart

SABiosciences Custom PCR Arrays for TNNT2

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNT2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TNNT2 gene from 6/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TNNT2¹	troponin T type 2 (cardiac)	76.03(n) 76.71(a)		396433 NM_205449.1 NP_990780.1
lizard (Anolis carolinensis)	Reptilia	TNNT2⁶	--	66(a)	1 ↔ 1	4(131354171-131387660)
African clawed frog (Xenopus laevis)	Amphibia	AF467920.1²	--	73.56(n)		AF467920.1
zebrafish (Danio rerio)	Actinopterygii	tnnt2²	troponin T2, cardiac	77.26(n)		58071 AF282384.1
fruit fly (Drosophila melanogaster)	Insecta	up⁶	upheld	20(a)	1 → many	X(13487507-13496536)
worm (Caenorhabditis elegans)	Secernentea	tnt-3⁶ tnt-4⁶ (see all 4)	TropoNin T family member (tnt-4) (see all 4)	6(a) 20(a) (see all 4)	many ↔ many many ↔ many (see all 4)	X(7937519-7945000) V(1989478-1992888)

ENSEMBL Gene Tree for TNNT2 (if available)
TreeFam Gene Tree for TNNT2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TNNT2 gene

TNNT1² TNNT3²

3 SIMAP similar genes for TNNT2 using alignment to 13 protein entries: TNNT2_HUMAN (see all proteins):

HNTN1 TNNT3 TNNT1

TNNT2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74315379^1,2	C	pathogenic	181710786(-)	`GCATCC/TGGAAT`	8	R W	mis¹		0	--	--	--	--
rs121964857^1,2	C,F	pathogenic	181715876(-)	`AGACCC/TGCGGG`	8	R C	mis¹		1		NA	4482
rs45490292^1,2	C,F,	probable-non-pathogenic	181709519(-)	`TAAGCG/AGTGGC`	4	--	int¹		4		NS	496
rs10920180^1,2	C,F,A,H,	--	172494145(+)	`TCTGTC/TCCCCT`	4	--	ds500¹		25		NS EA NA WA CSA	2846
rs45457193^1,2	C,	--	172494182(-)	`GGAGTC/GACCAA`	4	--	ds500¹		4		NS	498
rs3730246^1,2	C,F,H	--	172494325(-)	`CAGGTC/TCCCGG`	4	--	ds500¹		10		NS EA CSA	913
rs3730245^1,2	C,F,H,	--	172494364(-)	`TCAGAG/AAGAGA`	4	--	ds500¹		10		NS EA CSA	909
rs3730244^1,2	C,H,	--	172494518(-)	`GTTCCC/TGGGCC`	4	--	ut3¹ ese³		9		NS EA NA	1006
rs3729998^1,2	C,F,	--	172494523(-)	`CCCCAG/ATTCCC`	4	--	ut3¹ ese³		4		NS	490
rs45503195^1,2	C	--	172494622(-)	`ACCCGC/TGGGAA`	8	R	syn¹		4		NS	488

HapMap Linkage Disequilibrium report for TNNT2 (201328136 - 201346890 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TNNT2: --
Human Gene Mutation Database (HGMD): TNNT2

Locus Specific Mutation Databases (LSDB): TNNT2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TNNT2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TNNT2 for disorders           About GeneDecksing

OMIM gene information: 191045
OMIM disorders: 115195  601494  612422
UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379

Defects in TNNT2 are the cause of familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195]. Familial

hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually

asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse,

palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial

variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death

Defects in TNNT2 are the cause of cardiomyopathy dilated type 1D (CMD1D) [MIM:601494]. Dilated cardiomyopathy

is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart

failure and arrhythmia. Patients are at risk of premature death

Defects in TNNT2 are the cause of familial restrictive cardiomyopathy type 3 (RCM3) [MIM:612422]. Restrictive

cardiomyopathy is a heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume,

in the presence of normal or near normal wall thickness and systolic function

20/37 diseases for TNNT2 (see all 37): About MalaCards

cardiomyopathy dilated cardiomyopathy hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy

left ventricular noncompaction left ventricular noncompaction 6 cardiomyopathy, familial hypertrophic, 2 gas gangrene

restrictive cardiomyopathy familial restrictive cardiomyopathy myocardial infarction duchenne muscular dystrophy

acute myocardial infarction muscular dystrophy intermediate coronary syndrome nemaline myopathy

familial dilated cardiomyopathy chronic obstructive pulmonary disease cerebrovascular accident heart block

12 diseases from the University of Copenhagen DISEASES database for TNNT2:

Myocardial infarction Intermediate coronary syndrome Familial hypertrophic cardiomyopathy Coronary heart disease

Hypertrophic cardiomyopathy Vascular disease Dilated cardiomyopathy Kidney failure

Myocarditis Congestive heart failure Restrictive cardiomyopathy Gas gangrene

10/24 Novoseek disease relationships for TNNT2 gene (see all 24) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
death sudden cardiac	61.5	3	19477965 (1), 12881443 (1), 19880069 (1)
dilated cardiomyopathy	61.5	6	11967535 (1), 20124440 (1), 20031601 (1), 11779518 (1) (see all 6)
death sudden	57.9	4	11857753 (1), 14563299 (1), 11967535 (1), 11779518 (1)
cardiomyopathy	48.4	3	20083571 (2), 20124440 (1)
acute myocardial infarction	48.4	14	12649923 (3), 9857757 (1), 17926199 (1), 9028628 (1) (see all 9)
heart failure	47.8	6	15819505 (1), 14697983 (1), 17289431 (1), 11967535 (1) (see all 5)
ventricular hypertrophy	45.7	5	10462276 (2), 17289431 (1), 9714088 (1), 14986170 (1)
hypertrophy	45.4	3	20414521 (1), 12881443 (1), 9714088 (1)
myocardial infarction	42	4	12815787 (1), 12955276 (1), 14662251 (1)
cardiac hypertrophy	38.1	2	11857753 (1), 14986170 (1)

GeneTests: TNNT2

Familial Hypertrophic Cardiomyopathy

Dilated Cardiomyopathy

Genetic Association Database (GAD): TNNT2
Human Genome Epidemiology (HuGE) Navigator: TNNT2 (36 documents)

Export disorders for TNNT2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TNNT2 gene, integrated from 9 sources (see all 295):
(articles sorted by number of sources associating them with TNNT2)

Utopia: connect your pdf to the dynamic
world of online information

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PubMed id 15769782)^{1, 2, 4, 9} Villard E.... Komajda M. (2005)
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. (PubMed id 9482583)^{1, 2, 3, 9} Gerull B.... Thierfelder L. (1998)
Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PubMed id 15563892)^{1, 2, 4, 9} Song L.... Hui R. (2005)
Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. (PubMed id 8088824)^{1, 2, 3, 9} Townsend P.J.... Barton P.J.R. (1994)
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)^{1, 2, 4, 9} Ingles J.... Semsarian C. (2005)
The role of a common TNNT2 polymorphism in cardiac hypertrophy. (PubMed id 14986170)^{1, 4, 9} Komamura K....Miyatake K. (2004)
Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. (PubMed id 9140840)^{1, 2, 9} Nakajima-Taniguchi C....Yamauchi-Takihara K. (1997)
Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. (PubMed id 8989109)^{1, 2, 9} Forissier J.F....Schwartz K. (1996)
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. (PubMed id 12707239)^{1, 2, 9} Richard P....Komajda M. (2003)
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. (PubMed id 11034944)^{1, 2, 9} Ho C.Y....Seidman C.E. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7139	HGNC: 11949	AceView: TNNT2	Ensembl:ENSG00000118194	euGenes: HUgn7139
ECgene: TNNT2	Kegg: 7139	H-InvDB: TNNT2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TNNT2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNNT2

Intellectual Property for TNNT2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TNNT2 gene:
Search GeneIP for patents involving TNNT2

GeneCards and IP:
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troponin T type 2 (cardiac)

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