Entity Details

Primary name DSPP
Entity type gene
Source Source Link

Details

PrimaryID1834
RefseqGeneNG_011595
SymbolDSPP
Namedentin sialophosphoprotein
Chromosome4
Location4q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-05-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDSPP_HUMAN

GO terms

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GOName
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005518 collagen binding
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0007275 multicellular organism development
GO:0030198 extracellular matrix organization
GO:0031012 extracellular matrix
GO:0031214 biomineral tissue development
GO:0071895 odontoblast differentiation
GO:0097187 dentinogenesis
GO:1901329 regulation of odontoblast differentiation

Diseases

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Disease IDSourceNameDescription
125500 OMIMDentinogenesis imperfecta, Shields type 3 (DGI3)A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta. The disease is caused by variants affecting the gene represented in this entry. DSPP defects causing dentin abnormalities act in a dominant negative manner and include missense, splice-site, frameshift mutations. 5' frameshift mutations cause dentin dysplasia while frameshift mutations at the 3' end cause the more severe dentinogenesis imperfecta phenotype (PubMed:18521831 and PubMed:22392858).
125490 OMIMDentinogenesis imperfecta, Shields type 2 (DGI2)A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI2 is not associated with osteogenesis imperfecta. The disease is caused by variants affecting the gene represented in this entry. DSPP defects causing dentin abnormalities act in a dominant negative manner and include missense, splice-site, frameshift mutations. 5' frameshift mutations cause dentin dysplasia while frameshift mutations at the 3' end cause the more severe dentinogenesis imperfecta phenotype (PubMed:18521831 and PubMed:22392858).
605594 OMIMDeafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1)A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta. The disease is caused by variants affecting the gene represented in this entry.
125420 OMIMDentin dysplasia 2 (DTDP2)A dental defect in which the deciduous teeth are opalescent. The permanent teeth are of normal shape, form, and color in most cases. The root length is normal. On radiographs, the pulp chambers of permanent teeth are obliterated, have a thistle-tube deformity and contain pulp stones. The disease is caused by variants affecting the gene represented in this entry. DSPP defects causing dentin abnormalities act in a dominant negative manner and include missense, splice-site, frameshift mutations. 5' frameshift mutations cause dentin dysplasia while frameshift mutations at the 3' end cause the more severe dentinogenesis imperfecta phenotype (PubMed:18521831, PubMed:22392858).

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
DSPPHEXIM1BioGRID29845934 details