PLS3 Chromosome X

Plastin 3
40 variants 40 Health Risk

Upload your DNA to see your personal genotypes for variants in PLS3.

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
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
Sign Up to Analyze Your DNA Log In