Human Gene AC119427.2 (ENST00000671234.1) Description and Page Index
  Description: AC119427.2 (from geneSymbol)
RefSeq Summary (NM_001001431): 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].
Gencode Transcript: ENST00000671234.1
Gencode Gene: ENSG00000286600.1
Transcript (Including UTRs)
   Position: hg38 chr1:201,359,018-201,382,254 Size: 23,237 Total Exon Count: 17 Strand: -


Page IndexSequence and LinksMicroarray ExpressionOther SpeciesmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:201,359,018-201,382,254)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl
ExonPrimerPubMedStanford SOURCE

+  Microarray Expression Data
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  S64668 - troponin T [human, heart, mRNA, 1086 nt].
X74819 - H.sapiens mRNA for cardiac troponin T.
AL832707 - Homo sapiens mRNA; cDNA DKFZp313E1935 (from clone DKFZp313E1935).
AK055533 - Homo sapiens cDNA FLJ30971 fis, clone HEART2000448, moderately similar to TROPONIN T, CARDIAC MUSCLE ISOFORMS.
AY277394 - Homo sapiens troponin T cardiac isoform (HNTN1) mRNA, complete cds.
BC002653 - Homo sapiens troponin T type 2 (cardiac), mRNA (cDNA clone MGC:3889 IMAGE:3612968), complete cds.
AK125236 - Homo sapiens cDNA FLJ43246 fis, clone HEART1000139.
X79857 - H.sapiens HTNT4 mRNA for cardiac troponin T.
JD148826 - Sequence 129850 from Patent EP1572962.
L40162 - Homo sapiens troponin T cardiac isoform mRNA, 3' end of cds.
JD399533 - Sequence 380557 from Patent EP1572962.
AK290621 - Homo sapiens cDNA FLJ77070 complete cds, highly similar to Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 2, mRNA.
JD318837 - Sequence 299861 from Patent EP1572962.
JD364465 - Sequence 345489 from Patent EP1572962.
JD130872 - Sequence 111896 from Patent EP1572962.
JD236042 - Sequence 217066 from Patent EP1572962.
JD338165 - Sequence 319189 from Patent EP1572962.
JD398266 - Sequence 379290 from Patent EP1572962.
JD399736 - Sequence 380760 from Patent EP1572962.
S71125 - troponin T {skipped exon 15} [human, familial hypertrophic cardiomyopathy, family AU, lymphocytes, mRNA Partial Mutant, 63 nt].
HQ447413 - Synthetic construct Homo sapiens clone IMAGE:100070736; CCSB004099_04 troponin T type 2 (cardiac) (TNNT2) gene, encodes complete protein.
KJ892299 - Synthetic construct Homo sapiens clone ccsbBroadEn_01693 TNNT2 gene, encodes complete protein.
KR709931 - Synthetic construct Homo sapiens clone CCSBHm_00007871 TNNT2 (TNNT2) mRNA, encodes complete protein.
KR709932 - Synthetic construct Homo sapiens clone CCSBHm_00007907 TNNT2 (TNNT2) mRNA, encodes complete protein.
S71126 - troponin T {exons 14-15} [human, familial hypertrophic cardiomyopathy, family AU, lymphocytes, mRNA Partial Mutant, 84 nt].
X83743 - Homo sapiens mRNA for cardiac troponin T (adult isoform).
X83744 - Homo sapiens mRNA for cardiac troponin T.
CU678094 - Synthetic construct Homo sapiens gateway clone IMAGE:100018735 5' read TNNT2 mRNA.
AK309493 - Homo sapiens cDNA, FLJ99534.
X79861 - H.sapiens TNT6-1/HTNT1 mRNA for cardiac troponin T.
X79859 - H.sapiens HTNT5-7 mRNA for cardiac troponin T.
X79856 - H.sapiens HTNT5B mRNA for cardiac troponin T.
X79855 - H.sapiens HTNT5A mRNA for cardiac troponin T.
X79858 - H.sapiens HTNT3 mRNA for cardiac troponin T.
JD522012 - Sequence 503036 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04260 - Cardiac muscle contraction
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05414 - Dilated cardiomyopathy

-  Other Names for This Gene
  Alternate Gene Symbols: AK125236, uc288kkp.1
UCSC ID: uc288kkp.1
RefSeq Accession: NM_001001431

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.