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Aliases for TPM2 Gene

Aliases for TPM2 Gene

  • Tropomyosin 2 (Beta) 2 3 5
  • Nemaline Myopathy Type 4 2 3
  • TMSB 3 4
  • Arthrogryposis Multiplex Congenital, Distal, Type 1 2
  • Epididymis Secretory Protein Li 273 3
  • Beta-Tropomyosin 4
  • Tropomyosin-2 4
  • HEL-S-273 3
  • AMCD1 3
  • DA2B 3
  • NEM4 3
  • DA1 3

External Ids for TPM2 Gene

Previous HGNC Symbols for TPM2 Gene

  • AMCD1

Previous GeneCards Identifiers for TPM2 Gene

  • GC09M035994
  • GC09M035851
  • GC09M035671

Summaries for TPM2 Gene

Entrez Gene Summary for TPM2 Gene

  • This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

GeneCards Summary for TPM2 Gene

TPM2 (Tropomyosin 2 (Beta)) is a Protein Coding gene. Diseases associated with TPM2 include Arthrogryposis Multiplex Congenita, Distal, Type 1 and Nemaline Myopathy 4, Autosomal Dominant. Among its related pathways are Smooth Muscle Contraction and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is TPM4.

UniProtKB/Swiss-Prot for TPM2 Gene

  • 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).

Gene Wiki entry for TPM2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPM2 Gene

Genomics for TPM2 Gene

Regulatory Elements for TPM2 Gene

Enhancers for TPM2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TPM2 on UCSC Golden Path with GeneCards custom track

Promoters for TPM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TPM2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TPM2 Gene

Chromosome:
9
Start:
35,681,992 bp from pter
End:
35,691,020 bp from pter
Size:
9,029 bases
Orientation:
Minus strand

Genomic View for TPM2 Gene

Genes around TPM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPM2 Gene

Proteins for TPM2 Gene

  • Protein details for TPM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07951-TPM2_HUMAN
    Recommended name:
    Tropomyosin beta chain
    Protein Accession:
    P07951
    Secondary Accessions:
    • A6NM85
    • P06468
    • Q13894
    • Q53FM4
    • Q5TCU4
    • Q5TCU7
    • Q9UH67

    Protein attributes for TPM2 Gene

    Size:
    284 amino acids
    Molecular mass:
    32851 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta chain.

    Alternative splice isoforms for TPM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPM2 Gene

Proteomics data for TPM2 Gene at MOPED

Post-translational modifications for TPM2 Gene

  • Phosphorylated on Ser-61 by PIK3CG. Phosphorylation on Ser-61 is required for ADRB2 internalization (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TPM2 Gene

No data available for DME Specific Peptides for TPM2 Gene

Domains & Families for TPM2 Gene

Gene Families for TPM2 Gene

Protein Domains for TPM2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TPM2 Gene

Graphical View of Domain Structure for InterPro Entry

P07951

UniProtKB/Swiss-Prot:

TPM2_HUMAN :
  • The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.
  • Belongs to the tropomyosin family.
Domain:
  • The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.
Family:
  • Belongs to the tropomyosin family.
genes like me logo Genes that share domains with TPM2: view

Function for TPM2 Gene

Molecular function for TPM2 Gene

GENATLAS Biochemistry:
tropomyosin 2,beta,skeletal muscle
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for TPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 17194691
genes like me logo Genes that share ontologies with TPM2: view
genes like me logo Genes that share phenotypes with TPM2: view

Human Phenotype Ontology for TPM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TPM2 Gene

Localization for TPM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPM2 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TPM2 Gene COMPARTMENTS Subcellular localization image for TPM2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
extracellular 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for TPM2 Gene

Pathways & Interactions for TPM2 Gene

genes like me logo Genes that share pathways with TPM2: view

Gene Ontology (GO) - Biological Process for TPM2 Gene

None

No data available for SIGNOR curated interactions for TPM2 Gene

Drugs & Compounds for TPM2 Gene

(1) Drugs for TPM2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with TPM2: view

Transcripts for TPM2 Gene

Unigene Clusters for TPM2 Gene

Tropomyosin 2 (beta):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TPM2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - -
SP8: - - -
SP9: - - - - -
SP10: - - -
SP11: - - - - - -
SP12:
SP13: - - - - - - - - - - - - - - - - - - -
SP14: -
SP15:
SP16:

ExUns: 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - -
SP2:
SP3: - -
SP4: - - - -
SP5: - - - -
SP6:
SP7: - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for TPM2 Gene

GeneLoc Exon Structure for
TPM2
ECgene alternative splicing isoforms for
TPM2

Expression for TPM2 Gene

mRNA expression in normal human tissues for TPM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPM2 Gene

This gene is overexpressed in Muscle - Skeletal (x10.7), Esophagus - Gastroesophageal Junction (x5.1), Esophagus - Muscularis (x5.0), and Artery - Tibial (x4.8).

Protein differential expression in normal tissues from HIPED for TPM2 Gene

This gene is overexpressed in Seminal vesicle (27.9) and Colon muscle (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TPM2 Gene



SOURCE GeneReport for Unigene cluster for TPM2 Gene Hs.300772

mRNA Expression by UniProt/SwissProt for TPM2 Gene

P07951-TPM2_HUMAN
Tissue specificity: Present in primary breast cancer tissue, absent from normal breast tissue.
genes like me logo Genes that share expression patterns with TPM2: view

Protein tissue co-expression partners for TPM2 Gene

- Elite partner

Primer Products

Orthologs for TPM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TPM2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TPM2 35
  • 89.44 (n)
  • 92.25 (a)
TPM2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TPM2 35
  • 99.88 (n)
  • 100 (a)
TPM2 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TPM2 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TPM2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpm2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPM2 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRT-1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPM2 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398674 35
zebrafish
(Danio rerio)
Actinopterygii tpm2 36
  • 80 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tm1 37
  • 51 (a)
Tm2 37
  • 46 (a)
Tm1 36
  • 20 (a)
ManyToMany
Tm2 36
  • 45 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lev-11 36
  • 53 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10371 36
  • 61 (a)
ManyToMany
CSA.11015 36
  • 68 (a)
ManyToMany
CSA.11207 36
  • 50 (a)
ManyToMany
Species with no ortholog for TPM2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TPM2 Gene

ENSEMBL:
Gene Tree for TPM2 (if available)
TreeFam:
Gene Tree for TPM2 (if available)

Paralogs for TPM2 Gene

Paralogs for TPM2 Gene

(8) SIMAP similar genes for TPM2 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for TPM2 Gene

genes like me logo Genes that share paralogs with TPM2: view

Variants for TPM2 Gene

Sequence variations from dbSNP and Humsavar for TPM2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_013468 Nemaline myopathy 4 (NEM4)
VAR_013469 Nemaline myopathy 4 (NEM4)
VAR_016086 Arthrogryposis, distal, 1A (DA1A)
rs3180843 - 35,683,197(+) GCGAG(A/C/G/T)AACTG intron-variant, nc-transcript-variant, reference, missense
VAR_070978 Nemaline myopathy 4 (NEM4)

Structural Variations from Database of Genomic Variants (DGV) for TPM2 Gene

Variant ID Type Subtype PubMed ID
dgv8168n71 CNV Gain 21882294
nsv466385 CNV Loss 19166990
nsv6528 CNV Insertion 18451855

Variation tolerance for TPM2 Gene

Residual Variation Intolerance Score: 17.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.32; 76.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPM2 Gene

Human Gene Mutation Database (HGMD)
TPM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPM2 Gene

Disorders for TPM2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for TPM2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
arthrogryposis multiplex congenita, distal, type 1
  • arthrogryposis multiplex congenita
nemaline myopathy 4, autosomal dominant
  • cap myopathy 2
arthrogryposis, distal, type 2b
  • arthrogryposis multiplex congenita, distal, type 2b
tpm2-related nemaline myopathy
  • nem 4
typical congenital nemaline myopathy
  • typical nemaline myopathy
- elite association - COSMIC cancer census association via MalaCards
Search TPM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TPM2_HUMAN
  • Arthrogryposis, distal, 1A (DA1A) [MIM:108120]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, 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. {ECO:0000269 PubMed:12592607, ECO:0000269 PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. {ECO:0000269 PubMed:17339586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cap myopathy 2 (CAPM2) [MIM:609285]: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and non-progressive or slowly progressive muscle weakness. Respiratory problems are common. {ECO:0000269 PubMed:17434307, ECO:0000269 PubMed:19047562, ECO:0000269 PubMed:19345583, ECO:0000269 PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nemaline myopathy 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-like or rod-shaped 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. {ECO:0000269 PubMed:11738357, ECO:0000269 PubMed:17846275, ECO:0000269 PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TPM2

Genetic Association Database (GAD)
TPM2
Human Genome Epidemiology (HuGE) Navigator
TPM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPM2
genes like me logo Genes that share disorders with TPM2: view

No data available for Genatlas for TPM2 Gene

Publications for TPM2 Gene

  1. Cap disease due to mutation of the beta-tropomyosin gene (TPM2). (PMID: 19345583) Clarke N.F. … North K.N. (Neuromuscul. Disord. 2009) 3 4 23 67
  2. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. (PMID: 19142688) Gurnett C.A. … Dobbs M.B. (Clin. Orthop. Relat. Res. 2009) 3 23
  3. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. (PMID: 19155175) Monnier N. … Jouk P.S. (Neuromuscul. Disord. 2009) 3 23
  4. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. (PMID: 19047562) Ohlsson M. … Tajsharghi H. (Neurology 2008) 3 23
  5. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). (PMID: 17846275) Tajsharghi H. … Oldfors A. (Arch. Neurol. 2007) 3 23

Products for TPM2 Gene

Sources for TPM2 Gene

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