Human Gene TPM2 (ENST00000645482.3_13) from GENCODE V47lift37
  Description: tropomyosin 2, transcript variant Tpm2.2 (from RefSeq NM_003289.4)
Gencode Transcript: ENST00000645482.3_13
Gencode Gene: ENSG00000198467.16_17
Transcript (Including UTRs)
   Position: hg19 chr9:35,682,929-35,689,922 Size: 6,994 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr9:35,683,156-35,689,814 Size: 6,659 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:35,682,929-35,689,922)mRNA (may differ from genome)Protein (284 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TPM2_HUMAN
DESCRIPTION: RecName: Full=Tropomyosin beta chain; AltName: Full=Beta-tropomyosin; AltName: Full=Tropomyosin-2;
FUNCTION: Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization (By similarity).
SUBUNIT: Heterodimer of an alpha and a beta chain.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
TISSUE SPECIFICITY: Present in primary breast cancer tissue, absent from normal breast tissue.
DOMAIN: The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven- residues periodicity.
PTM: Phosphorylated on Ser-61 by PIK3CG. Phosphorylation on Ser-61 is required for ADRB2 internalization (By similarity).
MASS SPECTROMETRY: Mass=32850.73; Method=MALDI; Range=1-284 (P07951-1); Source=PubMed:11840567;
MASS SPECTROMETRY: Mass=32989.81; Method=MALDI; Range=1-284 (P07951-2); Source=PubMed:11840567;
DISEASE: Defects in TPM2 are the cause of nemaline myopathy type 4 (NEM4) [MIM:609285]. A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination. Nemaline myopathy type 4 presents from infancy to childhood with hypotonia and moderate-to-severe proximal weakness with minimal or no progression. Major motor milestones are delayed but independent ambulation is usually achieved, although a wheelchair may be needed in later life.
DISEASE: Defects in TPM2 are the cause of distal arthrogryposis type 1A (DA1A) [MIM:108120]. A form of distal arthrogryposis, a disease characterized by congenital joint flexures or contractures that mainly involve the distal parts of the limbs, and affect two or more different body areas in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.
SIMILARITY: Belongs to the tropomyosin family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TPM2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TPM2
Diseases sorted by gene-association score: arthrogryposis multiplex congenita, distal, type 1* (1650), nemaline myopathy 4, autosomal dominant* (1200), arthrogryposis, distal, type 2b* (1096), tpm2-related nemaline myopathy* (500), childhood-onset nemaline myopathy* (350), distal arthrogryposis* (324), arthrogryposis, distal, type 5* (283), cap myopathy* (274), typical congenital nemaline myopathy* (247), congenital fiber-type disproportion* (150), tpm2-related arthrogryposis multiplex congenita, distal, type 2b* (100), tpm2-related congenital fiber-type disproportion* (100), nemaline myopathy (48), myopathy (22), clubfoot (17), escobar syndrome (12), congenital structural myopathy (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.30108-0.169 Picture PostScript Text
3' UTR -72.10227-0.318 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000533 - Tropomyosin

Pfam Domains:
PF00261 - Tropomyosin
PF12718 - Tropomyosin like

SCOP Domains:
58042 - Outer membrane lipoprotein
90257 - Myosin rod fragments
57997 - Tropomyosin

ModBase Predicted Comparative 3D Structure on P07951
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0008307 structural constituent of muscle
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0051015 actin filament binding

Biological Process:
GO:0006936 muscle contraction
GO:0007015 actin filament organization
GO:0030049 muscle filament sliding
GO:0043462 regulation of ATPase activity

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005862 muscle thin filament tropomyosin
GO:0005884 actin filament
GO:0015629 actin cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  FJ224304 - Homo sapiens epididymis secretory protein Li 273 (HEL-S-273) mRNA, complete cds.
AK223258 - Homo sapiens mRNA for tropomyosin 2 (beta) isoform 2 variant, clone: STM07328.
AK130045 - Homo sapiens cDNA FLJ26535 fis, clone KDN09213.
M12125 - Human fibroblast muscle-type tropomyosin mRNA, complete cds.
BC011776 - Homo sapiens tropomyosin 2 (beta), mRNA (cDNA clone MGC:19587 IMAGE:3640927), complete cds.
M74817 - Human tropomyosin-1 (TM-beta) mRNA, complete cds.
M75165 - H.sapiens epithelial tropomyosin (TM1) mRNA, complete cds.
KJ892308 - Synthetic construct Homo sapiens clone ccsbBroadEn_01702 TPM2 gene, encodes complete protein.
KR710416 - Synthetic construct Homo sapiens clone CCSBHm_00012298 TPM2 (TPM2) mRNA, encodes complete protein.
KR710417 - Synthetic construct Homo sapiens clone CCSBHm_00012299 TPM2 (TPM2) mRNA, encodes complete protein.
KR710418 - Synthetic construct Homo sapiens clone CCSBHm_00012300 TPM2 (TPM2) mRNA, encodes complete protein.
KR710419 - Synthetic construct Homo sapiens clone CCSBHm_00012302 TPM2 (TPM2) mRNA, encodes complete protein.
DQ892908 - Synthetic construct clone IMAGE:100005538; FLH190736.01X; RZPDo839D0676D tropomyosin 2 (beta) (TPM2) gene, encodes complete protein.
DQ896159 - Synthetic construct Homo sapiens clone IMAGE:100010619; FLH190732.01L; RZPDo839D0666D tropomyosin 2 (beta) (TPM2) gene, encodes complete protein.
M12126 - Human skeletal muscle beta-tropomyosin mRNA, 3' end.
X06825 - Human mRNA for skeletal beta-tropomyosin.
EU106177 - Homo sapiens beta tropomyosin isoform (TPM2b) mRNA, complete cds.
AK304803 - Homo sapiens cDNA FLJ57036 complete cds, highly similar to Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.
AK300249 - Homo sapiens cDNA FLJ57891 complete cds, highly similar to Tropomyosin beta chain.
AK294522 - Homo sapiens cDNA FLJ56690 complete cds, highly similar to Tropomyosin beta chain.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P07951 (Reactome details) participates in the following event(s):

R-HSA-445705 Release Of ADP From Myosin
R-HSA-445699 ATP Hydrolysis By Myosin
R-HSA-445700 Myosin Binds ATP
R-HSA-445704 Calcium Binds Caldesmon
R-HSA-390597 Release Of ADP From Myosin
R-HSA-390593 ATP Hydrolysis By Myosin
R-HSA-390598 Myosin Binds ATP
R-HSA-390595 Calcium Binds Troponin-C
R-HSA-445355 Smooth Muscle Contraction
R-HSA-390522 Striated Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: A6NM85, ENST00000645482.1, ENST00000645482.2, NM_003289, P06468, P07951, Q13894, Q53FM4, Q5TCU4, Q5TCU7, Q9UH67, TMSB, TPM2_HUMAN, uc328lqd.1, uc328lqd.2
UCSC ID: ENST00000645482.3_13
RefSeq Accession: NM_003289.4
Protein: P07951 (aka TPM2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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