PDLIM3 Chromosome 4
PDZ and LIM domain 3
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What This Gene Does
The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"LIM domain containing|PDZ domain containing"
Locus Type
gene with protein product
Location
4q35.1
Ensembl
ENSG00000154553
Associated Conditions (6)
Familial cardiomyopathy
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Melanoma
Cardiovascular phenotype
Restrictive cardiomyopathy
Key Variants
RS142143310
Conflicting classifications of pathogenicity
Familial cardiomyopathy, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS142951316
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS146768859
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS199979457
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS200354645
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Melanoma
Health Risk
RS201185673
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS2095693278
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS370141697
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS373377356
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS569673500
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS750021846
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS751951109
Conflicting classifications of pathogenicity
Restrictive cardiomyopathy, Restrictive cardiomyopathy
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142143310 | Health Risk | Conflicting classifications of pathogenicity | Familial cardiomyopathy, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy |
| RS142951316 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |
| RS146768859 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |
| RS199979457 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |
| RS200354645 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Melanoma |
| RS201185673 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |
| RS2095693278 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |
| RS370141697 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy |
| RS373377356 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |
| RS569673500 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |
| RS750021846 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |
| RS751951109 | Health Risk | Conflicting classifications of pathogenicity | Restrictive cardiomyopathy, Restrictive cardiomyopathy |
| RS754882710 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy |
| RS781358846 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |
| RS781448134 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy |