DSPP Chromosome 4
Dentin sialophosphoprotein
Upload your DNA to see your personal genotypes for variants in DSPP.
What This Gene Does
This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mutations in this gene are associated with dentinogenesis imperfecta and dentin dysplasia. This gene is present in a gene cluster on chromosome 4. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
SIBLING family
Locus Type
gene with protein product
Location
4q22.1
Ensembl
ENSG00000152591
Associated Conditions (12)
Dentinogenesis imperfecta type 2
Inborn genetic diseases
Deafness
autosomal dominant 39
with dentinogenesis imperfecta 1
Dentinogenesis imperfecta
DSPP-related disorder
Hearing impairment
Pulp calcification
Dentinogenesis imperfecta type 3
autosomal dominant nonsyndromic sensorineural 39
Monogenic hearing loss
Key Variants
RS1218312896
Conflicting classifications of pathogenicity
Dentinogenesis imperfecta type 2, Inborn genetic diseases, Dentinogenesis imperfecta type 2
Health Risk
RS1387872889
Conflicting classifications of pathogenicity
Health Risk
RS1727756750
Conflicting classifications of pathogenicity
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
Health Risk
RS189169726
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS192767583
Conflicting classifications of pathogenicity
Dentinogenesis imperfecta, Inborn genetic diseases, Dentinogenesis imperfecta
Health Risk
RS199593367
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199683760
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200641947
Conflicting classifications of pathogenicity
DSPP-related disorder, DSPP-related disorder
Health Risk
RS200690984
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201110163
Conflicting classifications of pathogenicity
Health Risk
RS201170664
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201186956
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1218312896 | Health Risk | Conflicting classifications of pathogenicity | Dentinogenesis imperfecta type 2, Inborn genetic diseases, Dentinogenesis imperfecta type 2 |
| RS1387872889 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1727756750 | Health Risk | Conflicting classifications of pathogenicity | Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 |
| RS189169726 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS192767583 | Health Risk | Conflicting classifications of pathogenicity | Dentinogenesis imperfecta, Inborn genetic diseases, Dentinogenesis imperfecta |
| RS199593367 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199683760 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200641947 | Health Risk | Conflicting classifications of pathogenicity | DSPP-related disorder, DSPP-related disorder |
| RS200690984 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201110163 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201170664 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201186956 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201404949 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201942511 | Health Risk | Conflicting classifications of pathogenicity | DSPP-related disorder, Inborn genetic diseases, DSPP-related disorder |
| RS370261412 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370931212 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371825362 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372743728 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374400491 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374607352 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375736274 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377300383 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS528068159 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS549049385 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DSPP-related disorder, Inborn genetic diseases |
| RS61731011 | Health Risk | Conflicting classifications of pathogenicity | Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 |
| RS61738519 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745344342 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756809329 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762157486 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767387863 | Health Risk | Conflicting classifications of pathogenicity | Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 |
| RS770798435 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771105671 | Health Risk | Conflicting classifications of pathogenicity | Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 |
| RS780050498 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057521972 | Health Risk | Likely pathogenic | — |
| RS1553904372 | Health Risk | Likely pathogenic | Pulp calcification, Pulp calcification |
| RS1553904404 | Health Risk | Likely pathogenic | Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 |
| RS1553904512 | Health Risk | Likely pathogenic | Pulp calcification, Pulp calcification |
| RS1727745724 | Health Risk | Likely pathogenic | Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2 |
| RS2109998972 | Health Risk | Likely pathogenic | Dentinogenesis imperfecta type 3, Dentinogenesis imperfecta type 3 |
| RS2109999064 | Health Risk | Likely pathogenic | Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2 |
| RS2475883449 | Health Risk | Likely pathogenic | DSPP-related disorder, DSPP-related disorder |
| RS2475883633 | Health Risk | Likely pathogenic | Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2 |
| RS2475885470 | Health Risk | Likely pathogenic | Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2 |
| RS2475885503 | Health Risk | Likely pathogenic | Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2 |
| RS867583888 | Health Risk | Likely pathogenic | — |
| RS121912985 | Health Risk | Pathogenic | Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2 |
| RS121912986 | Health Risk | Pathogenic | Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 |
| RS121912987 | Health Risk | Pathogenic | Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 3, Deafness |
| RS121912989 | Health Risk | Pathogenic | Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2 |
| RS1560477489 | Health Risk | Pathogenic | Dentinogenesis imperfecta type 2, DSPP-related disorder, Dentinogenesis imperfecta |