TPM2 (tropomyosin 2)

2008-08-01  

Identity

HGNC
TPM2
LOCATION
9p13.3
LOCUSID
7169
ALIAS
AMCD1,DA1,DA2B,DA2B4,HEL-S-273,NEM4,TMSB
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382192972024Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.0
382192972024Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.0
339198262021Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent Regulation of Actin Filaments.5
339198262021Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent Regulation of Actin Filaments.5
320921482020A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.3
329577622020[Expression of tropomyosin 2 in aortic dissection tissue].2
330665662020Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln(147)Pro Tropomyosin.3
320921482020A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.3
329577622020[Expression of tropomyosin 2 in aortic dissection tissue].2
330665662020Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln(147)Pro Tropomyosin.3
305355932019Tropomyosin Tpm 2.1 loss induces glioblastoma spreading in soft brain-like environments.6
305456272019Structural and functional properties of αβ-heterodimers of tropomyosin with myopathic mutations Q147P and K49del in the β-chain.4
314876912019TPM2 as a potential predictive biomarker for atherosclerosis.36
305355932019Tropomyosin Tpm 2.1 loss induces glioblastoma spreading in soft brain-like environments.6
305456272019Structural and functional properties of αβ-heterodimers of tropomyosin with myopathic mutations Q147P and K49del in the β-chain.4

Citation

Dessen P

TPM2 (tropomyosin 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/gene/50293/css/lib/gene-fusions-explorer/js/lib/jquery-3.5.1.min.js