TPM2 (tropomyosin 2)

2008-08-01  

Identity

HGNC
LOCATION
9p13.3
LOCUSID
ALIAS
AMCD1,DA1,DA2B,DA2B4,HEL-S-273,NEM4,TMSB
FUSION GENES

Other Information

Locus ID:

NCBI: 7169
MIM: 190990
HGNC: 12011
Ensembl: ENSG00000198467

Variants:

dbSNP: 7169
ClinVar: 7169
TCGA: ENSG00000198467
COSMIC: TPM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198467ENST00000329305Q5TCU3
ENSG00000198467ENST00000378292P07951
ENSG00000198467ENST00000378292V9HW25
ENSG00000198467ENST00000607559U3KQK2
ENSG00000198467ENST00000644325A0A2R8Y6A3
ENSG00000198467ENST00000645482P07951
ENSG00000198467ENST00000647435A7XZE4

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000
4500

Pathways

PathwaySourceExternal ID
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522
Smooth Muscle ContractionREACTOMER-HSA-445355

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
266191482016Tropomyosin controls sarcomere-like contractions for rigidity sensing and suppressing growth on soft matrices.39
152083092004hnRNP A1 and the SR proteins ASF/SF2 and SC35 have antagonistic functions in splicing of beta-tropomyosin exon 6B.37
237928232013Protein isoform-specific validation defines multiple chloride intracellular channel and tropomyosin isoforms as serological biomarkers of ovarian cancer.26
227986222012Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.25
203810702010Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.22
173395862007Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.21
246920962014Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.20
220849352012Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.16
233782242013K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.16

Citation

Dessen P

TPM2 (tropomyosin 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/gene/50293/tpm2