SPARC Chromosome 5
Secreted protein acidic and cysteine rich
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What This Gene Does
This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]
Gene Info
Gene Group
"SPARC family|Secretory calcium-binding phosphoprotein family"
Locus Type
gene with protein product
Location
5q33.1
Ensembl
ENSG00000113140
Associated Conditions (7)
Osteogenesis imperfecta
SPARC-related disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Lung cancer
Familial cancer of breast
Osteogenesis imperfecta type 17
Key Variants
RS113617771
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, SPARC-related disorder, Osteogenesis imperfecta
Health Risk
RS13359508
Conflicting classifications of pathogenicity
SPARC-related disorder, Inborn genetic diseases, SPARC-related disorder
Health Risk
RS199932910
Conflicting classifications of pathogenicity
SPARC-related disorder, Ovarian serous cystadenocarcinoma, Lung cancer
Health Risk
RS369337074
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17
Health Risk
RS41290587
Conflicting classifications of pathogenicity
Inborn genetic diseases, Osteogenesis imperfecta, SPARC-related disorder
Health Risk
RS1057517662
Pathogenic
Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17
Health Risk
RS1057517663
Pathogenic
Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17
Health Risk
RS112382148
Pathogenic
Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113617771 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, SPARC-related disorder, Osteogenesis imperfecta |
| RS13359508 | Health Risk | Conflicting classifications of pathogenicity | SPARC-related disorder, Inborn genetic diseases, SPARC-related disorder |
| RS199932910 | Health Risk | Conflicting classifications of pathogenicity | SPARC-related disorder, Ovarian serous cystadenocarcinoma, Lung cancer |
| RS369337074 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17 |
| RS41290587 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Osteogenesis imperfecta, SPARC-related disorder |
| RS1057517662 | Health Risk | Pathogenic | Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17 |
| RS1057517663 | Health Risk | Pathogenic | Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17 |
| RS112382148 | Health Risk | Pathogenic | Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17 |