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... See more...

Aliases for TPM2 Gene

Aliases for TPM2 Gene

  • Tropomyosin 2 2 3 5
  • Nemaline Myopathy Type 4 2 3
  • Tropomyosin Beta Chain 3 4
  • Tropomyosin 2 (Beta) 2 3
  • NEM4 2 3
  • TMSB 3 4
  • DA1 2 3
  • 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
  • DA2B4 3
  • DA2B 3
  • TPM2 5

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) is a Protein Coding gene. Diseases associated with TPM2 include Nemaline Myopathy 4 and Arthrogryposis, Distal, Type 1A. Among its related pathways are Dilated cardiomyopathy (DCM) and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is TPM3.

UniProtKB/Swiss-Prot Summary 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.

Gene Wiki entry for TPM2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TPM2 Gene

Genomics for TPM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TPM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J035679 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 629.9 +3.9 3939 12.8 PRDM10 ZNF629 IKZF1 KDM1A ZNF692 POLR2A JUND PRDM1 ZIC2 ZSCAN4 TPM2 GBA2 TMEM8B TLN1 NPR2 CCDC107 SIT1 CREB3 RGP1 MSMP
GH09J035726 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 39.4 -40.4 -40359 8.6 ARHGAP35 SP1 CREB1 GATAD2A CTCF ZBTB33 HNRNPL ATF7 TEAD4 PRDM10 TLN1 CREB3 TPM2 TMEM8B ARHGEF39 GBA2 CCDC107 PIGO RN7SL22P MSMP
GH09J034987 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.5 +696.8 696776 10.6 SP1 CREB1 CTCF ATF7 TEAD4 PRDM10 REST ZNF629 SIX5 LEF1 DNAJB5 DNAJB5-DT VCP TPM2 FANCG UBAP2 FAM219A CCDC107 TLN1 PIGO
GH09J036135 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.5 -451.0 -451045 11 CTCF YBX1 LARP7 PRDM1 ZIC2 PKNOX1 ZNF24 PATZ1 REST SP1 GLIPR2 TPM2 CCDC107 TLN1 CCIN CLTA ARHGEF39 HMGB3P24 TMEM8B
GH09J036189 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.5 -502.0 -502004 4.7 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 TFE3 POLR2A BACH1 FOS CLTA lnc-GNE-3 TPM2 GNE CCDC107 ZCCHC7 TLN1 GLIPR2 HMGB3P24 ARHGEF39
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TPM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TPM2

Top Transcription factor binding sites by QIAGEN in the TPM2 gene promoter:
  • c-Myc
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E47
  • Max
  • p300

Genomic Locations for TPM2 Gene

Genomic Locations for TPM2 Gene
chr9:35,681,992-35,690,056
(GRCh38/hg38)
Size:
8,065 bases
Orientation:
Minus strand
chr9:35,681,989-35,691,017
(GRCh37/hg19)
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:
    • Homodimer. Heterodimer of an alpha (TPM1, TPM3 or TPM4) and a beta (TPM2) chain.

    Alternative splice isoforms for TPM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPM2 Gene

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

No data available for DME Specific Peptides for TPM2 Gene

Domains & Families for TPM2 Gene

Gene Families for TPM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TPM2 Gene

InterPro:
Blocks:
  • Tropomyosin
ProtoNet:

Suggested Antigen Peptide Sequences for TPM2 Gene

GenScript: Design optimal peptide antigens:
  • Tropomyosin 2 (Beta), isoform CRA_c (D3DRP0_HUMAN)
  • Tropomyosin-2 (TPM2_HUMAN)

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

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.
GENATLAS Biochemistry:
tropomyosin 2,beta,skeletal muscle

Phenotypes From GWAS Catalog for TPM2 Gene

Gene Ontology (GO) - Molecular Function for TPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,IDA 17194691
GO:0008307 structural constituent of muscle TAS 7606936
GO:0042802 identical protein binding IEA,ISS --
GO:0042803 protein homodimerization activity IEA,ISS --
GO:0046982 protein heterodimerization activity IEA,ISS --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPM2

Clone 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. Note=Associates with F-actin stress fibers. {ECO:0000250 UniProtKB:P58775}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPM2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005862 muscle thin filament tropomyosin TAS 7606936
GO:0005884 actin filament IBA 21873635
genes like me logo Genes that share ontologies with TPM2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IBA,TAS --
GO:0007015 actin filament organization IBA 21873635
GO:0030049 muscle filament sliding TAS --
GO:0043462 regulation of ATPase activity IDA 17194691
genes like me logo Genes that share ontologies with TPM2: view

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 6556
genes like me logo Genes that share compounds with TPM2: view

Transcripts for TPM2 Gene

mRNA/cDNA for TPM2 Gene

5 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPM2

Clone Products

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

Expression for TPM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TPM2 Gene



Protein tissue co-expression partners for TPM2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TPM2

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.

Evidence on tissue expression from TISSUES for TPM2 Gene

  • Muscle(5)
  • Intestine(4.8)
  • Stomach(4.6)
  • Pancreas(4.6)
  • Liver(4.5)
  • Lung(4.5)
  • Heart(4)
  • Skin(3.6)
  • Eye(3.2)
  • Nervous system(3.2)
  • Kidney(2.7)
  • Blood(2.5)
  • Adrenal gland(2.4)
  • Spleen(2.4)
  • Gall bladder(2.3)
  • Lymph node(2.3)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TPM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • shoulder
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TPM2: view

Orthologs for TPM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TPM2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TPM2 30 31
  • 99.88 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TPM2 31
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TPM2 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TPM2 30 31
  • 89.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TPM2 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tpm2 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BRT-1 31
  • 86 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TPM2 31
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398674 30
Zebrafish
(Danio rerio)
Actinopterygii tpm2 31
  • 80 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Tm2 31 32
  • 45 (a)
ManyToMany
Tm1 31 32
  • 20 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea lev-11 31
  • 53 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11015 31
  • 68 (a)
ManyToMany
CSA.10371 31
  • 61 (a)
ManyToMany
CSA.11207 31
  • 50 (a)
ManyToMany
Species where no ortholog for TPM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TPM2: view image

Paralogs for TPM2 Gene

Paralogs for TPM2 Gene

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

  • TPM2_HUMAN
  • D3DRP0_HUMAN
  • Q5TCU3_HUMAN
  • Q5TCU8_HUMAN
  • U3KQK2_HUMAN

Pseudogenes.org Pseudogenes for TPM2 Gene

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

Variants for TPM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TPM2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
657563 Uncertain Significance: Distal arthrogryposis type 1A 35,685,490(-) T/C MISSENSE_VARIANT
664399 Uncertain Significance: Distal arthrogryposis type 1A 35,685,299(-) C/A MISSENSE_VARIANT
667555 Benign: not provided 35,690,313(-) C/T
670240 Benign: Distal arthrogryposis type 1A; Nemaline myopathy 4; not provided 35,689,954(-) A/T FIVE_PRIME_UTR_VARIANT
670241 Benign: Distal arthrogryposis type 1A; Nemaline myopathy 4; not provided 35,689,953(-) A/T FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for TPM2 Gene

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

Variant ID Type Subtype PubMed ID
nsv1125318 OTHER inversion 24896259
nsv466385 CNV loss 19166990
nsv614166 CNV loss 21841781
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)

Additional Variant Information for TPM2 Gene

Human Gene Mutation Database (HGMD)
TPM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPM2

SNP Genotyping and Copy Number Assay Products

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

Disorders for TPM2 Gene

MalaCards: The human disease database

(39) MalaCards diseases for TPM2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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
  • 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.
  • 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.
  • 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.
  • Arthrogryposis, distal, 2B4 (DA2B4) [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 2 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, ECO:0000269 PubMed:23678273, ECO:0000269 PubMed:30285720}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TPM2

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

No data available for Genatlas for TPM2 Gene

Publications for TPM2 Gene

  1. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. (PMID: 19142688) Gurnett CA … Dobbs MB (Clinical orthopaedics and related research 2009) 3 23 41
  2. Cap disease due to mutation of the beta-tropomyosin gene (TPM2). (PMID: 19345583) Clarke NF … North KN (Neuromuscular disorders : NMD 2009) 3 4 23
  3. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. (PMID: 19047562) Ohlsson M … Tajsharghi H (Neurology 2008) 3 4 23
  4. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). (PMID: 17846275) Tajsharghi H … Oldfors A (Archives of neurology 2007) 3 4 23
  5. Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. (PMID: 30285720) Li S … Zhang X (BMC medical genetics 2018) 3 4

Products for TPM2 Gene

  • Signalway ELISA kits for TPM2
  • Signalway Proteins for TPM2

Sources for TPM2 Gene