TPM2
Tropomyosin beta chain
Also known as: AMCD1, DA1, NEM4, TPM2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P07951
- Gene
- TPM2
- Ensembl
- ENSG00000198467
- Chromosome
- 9
- Canonical length
- 284 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
284 residues, UniProt reviewed canonical sequence.
>P07951|TPM2
1 MDAIKKKMQM LKLDKENAID RAEQAEADKK QAEDRCKQLE EEQQALQKKL KGTEDEVEKY
61 SESVKEAQEK LEQAEKKATD AEADVASLNR RIQLVEEELD RAQERLATAL QKLEEAEKAA
121 DESERGMKVI ENRAMKDEEK MELQEMQLKE AKHIAEDSDR KYEEVARKLV ILEGELERSE
181 ERAEVAESKC GDLEEELKIV TNNLKSLEAQ ADKYSTKEDK YEEEIKLLEE KLKEAETRAE
241 FAERSVAKLE KTIDDLEDEV YAQKMKYKAI SEELDNALND ITSLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TPM2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 36,557 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 36,557 nTPM
- tongue: 15,657 nTPM
- blood vessel: 6,564 nTPM
- colon: 4,777 nTPM
- urinary bladder: 2,493 nTPM
- endometrium: 2,419 nTPM
Single-cell type
- smooth muscle cells: 8,892 nCPM
- vascular smooth muscle cells: 5,606 nCPM
- breast myoepithelial cells: 4,191 nCPM
- hepatic stellate cells: 2,601 nCPM
- decidual stromal cells: 2,342 nCPM
- salivary myoepithelial cells: 2,135 nCPM
Immune cell
- plasmacytoid DC: 400 nTPM
- total PBMC: 2.1 nTPM
- MAIT T-cell: 0.4 nTPM
- myeloid DC: 0.4 nTPM
- neutrophil: 0.4 nTPM
- memory CD8 T-cell: 0.3 nTPM
Brain region
- choroid plexus: 126 nTPM
- cerebral cortex: 64 nTPM
- cerebellum: 50 nTPM
- basal ganglia: 44 nTPM
- amygdala: 40 nTPM
- medulla oblongata: 37 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TPM2.
Disease | AllUniProt
Conditions TPM2 is implicated in, by any mechanism.
- Congenital myopathy 23 (CMYO23) MIM:609285
- Arthrogryposis, distal, 1A (DA1A) MIM:108120
- Arthrogryposis, distal, 2B4 (DA2B4) MIM:108120
Disease | GeneticClinVar
44 pathogenic / likely-pathogenic of 381 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Arthrogryposis, distal, type 1A
- Congenital myopathy 23
- Arthrogryposis, distal, type 2B4
- TPM2-related disorder
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.83
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.13
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- actin binding
- actin filament binding
- identical protein binding
- protein heterodimerization activity
- protein homodimerization activity
- structural constituent of muscle
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TPM2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TPM2 as an antibody target. Whether an autoantibody or antibody against TPM2 could matter depends on whether native TPM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TPM2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TPM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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