PLS3 Chromosome X
Plastin 3
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What This Gene Does
Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
"EF-hand domain containing|Plastin family"
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000102024
Associated Conditions (12)
Bone mineral density quantitative trait locus 18
Inborn genetic diseases
PLS3-related disorder
Nonpapillary renal cell carcinoma
Congenital diaphragmatic hernia
Hernia
anterior diaphragmatic
X-linked osteoporosis with fractures
Thyroid cancer
nonmedullary
1
Postmenopausal osteoporosis
Key Variants
RS397518421
association
Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
Health Risk
RS397518463
association
Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
Health Risk
RS137917062
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145235506
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149142111
Conflicting classifications of pathogenicity
PLS3-related disorder, Inborn genetic diseases, PLS3-related disorder
Health Risk
RS2147551714
Conflicting classifications of pathogenicity
Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
Health Risk
RS782600450
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1603241972
Likely pathogenic
Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
Health Risk
RS2074663472
Likely pathogenic
Health Risk
RS2074815332
Likely pathogenic
Health Risk
RS2147533064
Likely pathogenic
Bone mineral density quantitative trait locus 18, Nonpapillary renal cell carcinoma, Bone mineral density quantitative trait locus 18
Health Risk
RS2147551760
Likely pathogenic
Congenital diaphragmatic hernia, Hernia, anterior diaphragmatic
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS397518421 | Health Risk | association | Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18 |
| RS397518463 | Health Risk | association | Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18 |
| RS137917062 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145235506 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149142111 | Health Risk | Conflicting classifications of pathogenicity | PLS3-related disorder, Inborn genetic diseases, PLS3-related disorder |
| RS2147551714 | Health Risk | Conflicting classifications of pathogenicity | Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18 |
| RS782600450 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1603241972 | Health Risk | Likely pathogenic | Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18 |
| RS2074663472 | Health Risk | Likely pathogenic | — |
| RS2074815332 | Health Risk | Likely pathogenic | — |
| RS2147533064 | Health Risk | Likely pathogenic | Bone mineral density quantitative trait locus 18, Nonpapillary renal cell carcinoma, Bone mineral density quantitative trait locus 18 |
| RS2147551760 | Health Risk | Likely pathogenic | Congenital diaphragmatic hernia, Hernia, anterior diaphragmatic |
| RS2521471111 | Health Risk | Likely pathogenic | Hernia, anterior diaphragmatic, Hernia |
| RS2521534355 | Health Risk | Likely pathogenic | X-linked osteoporosis with fractures, X-linked osteoporosis with fractures |
| RS2521547128 | Health Risk | Likely pathogenic | Hernia, anterior diaphragmatic, Hernia |
| RS781875935 | Health Risk | Likely pathogenic | Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18 |
| RS868979288 | Health Risk | Likely pathogenic | — |
| RS1135402748 | Health Risk | Pathogenic | Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18 |
| RS2074664927 | Health Risk | Pathogenic | Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18 |
| RS2147533057 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2147551767 | Health Risk | Pathogenic | — |
| RS2147558436 | Health Risk | Pathogenic | — |
| RS2147577444 | Health Risk | Pathogenic | — |
| RS2147585672 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2147585800 | Health Risk | Pathogenic | — |
| RS2147586886 | Health Risk | Pathogenic | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS2147590595 | Health Risk | Pathogenic | Postmenopausal osteoporosis, Nonpapillary renal cell carcinoma, Postmenopausal osteoporosis |
| RS2521410230 | Health Risk | Pathogenic | — |
| RS2521410518 | Health Risk | Pathogenic | — |
| RS2521414626 | Health Risk | Pathogenic | — |
| RS2521452743 | Health Risk | Pathogenic | — |
| RS2521452825 | Health Risk | Pathogenic | — |
| RS2521452967 | Health Risk | Pathogenic | Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18 |
| RS2521453615 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2521471675 | Health Risk | Pathogenic | — |
| RS2521521060 | Health Risk | Pathogenic | — |
| RS2521522053 | Health Risk | Pathogenic | — |
| RS2521522247 | Health Risk | Pathogenic | — |
| RS2147585558 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS781935919 | Health Risk | Pathogenic/Likely pathogenic | Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18 |