Homo sapiens Gene: TNNT2
Summary
InnateDB Gene IDBG-105731.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TNNT2
Gene Name troponin T type 2 (cardiac)
Synonyms CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3; TnTC;
Species Homo sapiens
Ensembl Gene ENSG00000118194
Encoded Proteins
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
troponin T type 2 (cardiac)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:201359008-201377762
Strand Reverse strand
Band q32.1
Transcripts
ENST00000367322 ENSP00000356291
ENST00000367320 ENSP00000356289
ENST00000367318 ENSP00000356287
ENST00000367317 ENSP00000356286
ENST00000236918 ENSP00000236918
ENST00000360372 ENSP00000353535
ENST00000367315 ENSP00000356284
ENST00000421663 ENSP00000404134
ENST00000458432 ENSP00000387874
ENST00000438742 ENSP00000414036
ENST00000455702 ENSP00000402238
ENST00000422165 ENSP00000395163
ENST00000412633 ENSP00000408731
ENST00000445079
ENST00000491504
ENST00000460780
ENST00000476888
ENST00000509001 ENSP00000422031
ENST00000515042
ENST00000477035
ENST00000466570
ENST00000503459
ENST00000475686
ENST00000494095
ENST00000472177
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005523 tropomyosin binding
GO:0016887 ATPase activity
GO:0030172 troponin C binding
GO:0031013 troponin I binding
Biological Process
GO:0006200 ATP catabolic process
GO:0006936 muscle contraction
GO:0006937 regulation of muscle contraction
GO:0007507 heart development
GO:0008016 regulation of heart contraction
GO:0030049 muscle filament sliding
GO:0032780 negative regulation of ATPase activity
GO:0032781 positive regulation of ATPase activity
GO:0045214 sarcomere organization
GO:0051592 response to calcium ion
GO:0055009 atrial cardiac muscle tissue morphogenesis
GO:0055010 ventricular cardiac muscle tissue morphogenesis
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005861 troponin complex
GO:0005865 striated muscle thin filament
GO:0030016 myofibril
GO:0030017 sarcomere
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Muscle contraction pathway
Striated Muscle Contraction pathway
KEGG
Cardiac muscle contraction pathway
Hypertrophic cardiomyopathy (HCM) pathway
Dilated cardiomyopathy pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P45379
TrEMBL A9QLG1 A9QLG2 Q15608 Q8IZA1
UniProt Splice Variant
Entrez Gene 7139
UniGene Hs.533613
RefSeq NM_001276347 XM_006711510 NM_001001431 NM_001001432 NM_001001430 NM_001276346 NM_000364 NM_001276345 XM_006711509 XM_006711508 XM_006711512 XM_006711514 XM_006711513 XM_006711511
HUGO HGNC:11949
OMIM 191045
CCDS CCDS30969 CCDS30968 CCDS60390 CCDS73002 CCDS73003
HPRD 01844
IMGT
EMBL AC119427 AF004409 AF004410 AF004411 AF004412 AF004413 AF004414 AF004415 AF004416 AF004417 AF004418 AF004419 AF004420 AF004421 AF004422 AK290621 AY044273 AY160216 BC002653 EF179183 EU099967 EU099968 EU099969 L40162 S64668 S71126 S71127 S71128 X74819 X79855 X79856 X79857 X79858 X79859 Y09626 Y09627 Y09628
GenPept AAA67422 AAB27731 AAB30956 AAB30957 AAC39590 AAH02653 AAK92231 AAN71651 ABN05286 ABV48784 ABV48785 ABV48786 BAF83310 CAA52818 CAA56235 CAA56236 CAA56237 CAA56238 CAA56239 CAA70839 CAA70840 CAA70841
RNA Seq Atlas 7139