Homo sapiens Gene: TNNT2 | |||||||||||||||||||||||||
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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)
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Protein Structure |
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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] |
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Gene Information | |||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||
Genomic Location | Chromosome 1:201359008-201377762 | ||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||
Band | q32.1 | ||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||
REACTOME |
Striated Muscle Contraction pathway
Muscle contraction pathway
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KEGG |
Hypertrophic cardiomyopathy (HCM) pathway
Cardiac muscle contraction pathway
Dilated cardiomyopathy pathway
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INOH | |||||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | P45379 | ||||||||||||||||||||||||
TrEMBL | A9QLG1 A9QLG2 C9JDF8 C9JM61 E7EPN8 E7EPW4 J3KQN2 Q15607 Q15608 Q7Z554 Q8IZA1 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 7139 | ||||||||||||||||||||||||
UniGene | Hs.533613 | ||||||||||||||||||||||||
RefSeq | NM_000364 NM_001001430 NM_001001431 NM_001001432 NM_001276345 NM_001276346 NM_001276347 XM_006711508 XM_006711509 XM_006711510 XM_006711511 XM_006711512 XM_006711513 XM_006711514 | ||||||||||||||||||||||||
HUGO | HGNC:11949 | ||||||||||||||||||||||||
OMIM | 191045 | ||||||||||||||||||||||||
CCDS | CCDS30968 CCDS30969 CCDS60390 CCDS73002 CCDS73003 | ||||||||||||||||||||||||
HPRD | |||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AC119427 AF004409 AF004410 AF004411 AF004412 AF004413 AF004414 AF004415 AF004416 AF004417 AF004418 AF004419 AF004420 AF004421 AF004422 AK290621 AY044273 AY160216 AY277394 BC002653 CH471067 EF179183 EU099967 EU099968 EU099969 L40162 S64668 S71126 S71127 S71128 X74819 X79855 X79856 X79857 X79858 X79859 X79861 Y09626 Y09627 Y09628 | ||||||||||||||||||||||||
GenPept | AAA67422 AAB27731 AAB30956 AAB30957 AAC39590 AAH02653 AAK92231 AAN71651 AAP96757 ABN05286 ABV48784 ABV48785 ABV48786 BAF83310 CAA52818 CAA56235 CAA56236 CAA56237 CAA56238 CAA56239 CAA56240 CAA70839 CAA70840 CAA70841 EAW91354 EAW91355 | ||||||||||||||||||||||||
RNA Seq Atlas | 7139 | ||||||||||||||||||||||||