TPM2 Chromosome 9

Tropomyosin 2
53 variants 53 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Tropomyosins
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000198467
Associated Conditions (11)
Arthrogryposis
distal
type 1A
Inborn genetic diseases
Congenital myopathy 23
TPM2-related disorder
Distal arthrogryposis type 2B1
Nemaline myopathy
type 2B4
TPM2-related cap myopathy
TPM2-related myopathy
Key Variants
All Variants (53)
RSID Category Clinical Significance Conditions
RS1824676022 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal, type 1A
RS201987709 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal, type 1A
RS2490700207 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal, type 1A
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