TPM2 Chromosome 9
Tropomyosin 2
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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
RS1486146333
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1A
Health Risk
RS1554658503
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1A
Health Risk
RS1554658504
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1A
Health Risk
RS1563929454
Conflicting classifications of pathogenicity
Congenital myopathy 23, Arthrogryposis, distal
Health Risk
RS199476151
Conflicting classifications of pathogenicity
Health Risk
RS200730708
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1A
Health Risk
RS201145709
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1A
Health Risk
RS35401252
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1A
Health Risk
RS372751531
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1A
Health Risk
RS564977715
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1A
Health Risk
RS746177794
Conflicting classifications of pathogenicity
Congenital myopathy 23, Arthrogryposis, distal
Health Risk
RS759898332
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 1A
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1486146333 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS1554658503 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS1554658504 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS1563929454 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 23, Arthrogryposis, distal |
| RS199476151 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200730708 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS201145709 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS35401252 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS372751531 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS564977715 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS746177794 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 23, Arthrogryposis, distal |
| RS759898332 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS763429317 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 23, Arthrogryposis, distal |
| RS76414035 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS781513152 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, distal, type 1A |
| RS878854363 | Health Risk | Conflicting classifications of pathogenicity | Congenital myopathy 23, Arthrogryposis, distal |
| RS1064796239 | Health Risk | Likely pathogenic | — |
| RS1281970248 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 1A |
| RS137853307 | Health Risk | Likely pathogenic | Congenital myopathy 23, Arthrogryposis, distal |
| RS1554658492 | Health Risk | Likely pathogenic | — |
| RS1554658995 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 1A |
| RS1554659746 | Health Risk | Likely pathogenic | Inborn genetic diseases, Arthrogryposis, distal |
| RS1563929143 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 1A |
| RS1587959107 | Health Risk | Likely pathogenic | Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1 |
| RS1825151618 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 1A |
| RS199476145 | Health Risk | Likely pathogenic | Nemaline myopathy, Nemaline myopathy |
| RS199476147 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 1A |
| RS2131843731 | Health Risk | Likely pathogenic | Congenital myopathy 23, Congenital myopathy 23 |
| RS2131851980 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 1A |
| RS2131853219 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 1A |
| RS2490670454 | Health Risk | Likely pathogenic | TPM2-related disorder, TPM2-related disorder |
| RS2490683095 | Health Risk | Likely pathogenic | — |
| RS2490684829 | Health Risk | Likely pathogenic | — |
| RS727504180 | Health Risk | Likely pathogenic | — |
| RS745549628 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 1A |
| RS104894127 | Health Risk | Pathogenic | Arthrogryposis, distal, type 1A |
| RS113612402 | Health Risk | Pathogenic | Arthrogryposis, distal, type 2B4 |
| RS137853305 | Health Risk | Pathogenic | Arthrogryposis, distal, type 2B4 |
| RS137853306 | Health Risk | Pathogenic | Congenital myopathy 23, Arthrogryposis, distal |
| RS1465836003 | Health Risk | Pathogenic | Arthrogryposis, distal, type 1A |
| RS1554659545 | Health Risk | Pathogenic | — |
| RS1563929383 | Health Risk | Pathogenic | Arthrogryposis, distal, type 2B4 |
| RS1587956195 | Health Risk | Pathogenic | Arthrogryposis, distal, type 1A |
| RS199476146 | Health Risk | Pathogenic | Congenital myopathy 23, Arthrogryposis, distal |
| RS199476153 | Health Risk | Pathogenic | Congenital myopathy 23, Arthrogryposis, distal |
| RS199476154 | Health Risk | Pathogenic | Arthrogryposis, distal, type 1A |
| RS2131852702 | Health Risk | Pathogenic | Arthrogryposis, distal, type 1A |
| RS775399371 | Health Risk | Pathogenic | — |
| RS104894129 | Health Risk | Pathogenic/Likely pathogenic | Congenital myopathy 23, Arthrogryposis, distal |
| RS1563929039 | Health Risk | Pathogenic/Likely pathogenic | Arthrogryposis, distal, type 1A |