TMPO Chromosome 12

Thymopoietin
29 variants 29 Health Risk

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What This Gene Does
Through alternative splicing, this gene encodes several distinct LEM domain containing protein isoforms. LEM domain proteins include inner nuclear membrane and intranuclear proteins, and are involved in a variety of cellular functions including gene expression, chromatin organization, and replication and cell cycle control. The encoded alpha isoform is broadly diffuse in the nucleus and contains a lamin binding domain, while the beta and gamma isoforms are localized to the nuclear membrane and contain an HDAC3 interaction domain. The distinct isoforms may compete with each other when acting to chaperone other proteins and regulate transcription. [provided by RefSeq, Aug 2019]
Gene Info
Gene Group
LEM domain containing
Locus Type
gene with protein product
Location
12q23.1
Ensembl
ENSG00000120802
Associated Conditions (12)
Hypertrophic cardiomyopathy
Loeys-Dietz syndrome 2
Inborn genetic diseases
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1T
Amyloidosis
Arrhythmogenic right ventricular cardiomyopathy
TMPO-related disorder
High myopia
Hypertrophic cardiomyopathy 25
Long QT syndrome
Primary familial hypertrophic cardiomyopathy
Key Variants
RS1051007448
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Loeys-Dietz syndrome 2, Hypertrophic cardiomyopathy
Health Risk
RS1335078305
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
Health Risk
RS138295270
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 2, Inborn genetic diseases, Loeys-Dietz syndrome 2
Health Risk
RS141443652
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1T, Amyloidosis
Health Risk
RS143232629
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Loeys-Dietz syndrome 2, Hypertrophic cardiomyopathy
Health Risk
RS146364154
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 2, High myopia, Primary dilated cardiomyopathy
Health Risk
RS147002330
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 2, TMPO-related disorder, Loeys-Dietz syndrome 2
Health Risk
RS17028450
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1T, Primary dilated cardiomyopathy, Loeys-Dietz syndrome 2
Health Risk
RS200367787
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 2, Long QT syndrome, Loeys-Dietz syndrome 2
Health Risk
RS200420073
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
Health Risk
RS200923649
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
Health Risk
RS202106275
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
Health Risk
All Variants (29)
RSID Category Clinical Significance Conditions
RS1051007448 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Loeys-Dietz syndrome 2, Hypertrophic cardiomyopathy
RS1335078305 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS138295270 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Inborn genetic diseases, Loeys-Dietz syndrome 2
RS141443652 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1T, Amyloidosis
RS143232629 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Loeys-Dietz syndrome 2, Hypertrophic cardiomyopathy
RS146364154 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, High myopia, Primary dilated cardiomyopathy
RS147002330 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, TMPO-related disorder, Loeys-Dietz syndrome 2
RS17028450 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1T, Primary dilated cardiomyopathy, Loeys-Dietz syndrome 2
RS200367787 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Long QT syndrome, Loeys-Dietz syndrome 2
RS200420073 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS200923649 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS202106275 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS34150443 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, TMPO-related disorder, Loeys-Dietz syndrome 2
RS34301677 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS368211058 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS369379490 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS534940271 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS571417296 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS730880229 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Loeys-Dietz syndrome 2, Primary familial hypertrophic cardiomyopathy
RS746160070 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS747066370 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS756232510 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS763238672 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS763388598 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS764177808 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS771185259 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS772509210 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS779961791 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS780719278 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
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