DSPP (dentin sialophosphoprotein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1834
Gene name Gene Name - the full gene name approved by the HGNC.
Dentin sialophosphoprotein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DSPP
Synonyms (NCBI Gene) Gene synonyms aliases
DFNA39, DGI1, DMP3, DPP, DSP
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 extrac
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
SNP ID Visualize variation Clinical significance Consequence
rs121912985 C>A,T Pathogenic Missense variant, coding sequence variant, stop gained
rs121912986 C>A,T Pathogenic Missense variant, coding sequence variant
rs121912987 G>T Pathogenic Missense variant, coding sequence variant
rs121912988 T>G Pathogenic Missense variant, coding sequence variant
rs121912989 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
miRTarBase ID miRNA Experiments Reference
MIRT563388 hsa-miR-3609 PAR-CLIP 20371350
MIRT563387 hsa-miR-548ah-5p PAR-CLIP 20371350
MIRT563386 hsa-miR-106a-5p PAR-CLIP 20371350
MIRT563385 hsa-miR-106b-5p PAR-CLIP 20371350
MIRT563384 hsa-miR-17-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent TAS 8995371
GO:0005509 Function Calcium ion binding TAS 9879917
GO:0005518 Function Collagen binding IBA
GO:0005518 Function Collagen binding TAS 9879917
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
125485 3054 ENSG00000152591
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NZW4
Protein name Dentin sialophosphoprotein [Cleaved into: Dentin phosphoprotein (Dentin phosphophoryn) (DPP); Dentin sialoprotein (DSP)]
Protein function DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in teeth. DPP is synthesized by odontoblast and transiently expressed by pre-ameloblasts.
Sequence 
MKIITYFCIWAVAWAIPVPQSKPLERHVEKSMNLHLLARSNVSVQDELNASGTIKESGVL
VHEGDRGRQENTQDGHKGEGNGSKWAEVGGKSFSTYSTLANEEGNIEGWNGDTGKAETYG
HDGIHGKEENITANGIQGQVSIIDNAGATNRSNTNGNTDKNTQNGDVGDAGHNEDVAVVQ
EDGPQVAGSNNSTDNEDEIIENSCRNEGNTSEITPQINSKRNGTKEAEVTPGTGEDAGLD
NSDGSPSGNGADEDEDEGSGDDEDEEAGNGKDSSNNSKGQEGQDHGKEDDHDSSIGQNSD
SKEYYDPEGKEDPHNEVDGDKTSKSEENSAGIPEDNGSQRIEDTQKLNHRESKRVENRIT
KESETHAVGKSQDKGIEIKGPSSGNRNITKEVGKGNEGKEDKGQHGMILGKGNVKTQGEV
VNIEGPGQKSEPGNKVGHSNTGSDSNSDGYDSYDFDDKSMQGDDPNSSDESNGNDDANSE
SDNNSSSRGDASYNSDESKDNGNGSDSKGAEDDDSDSTSDTNNSDSNGNGNNGNDDNDKS
DSGKGKSDSSDSDSSDSSNSSDSSDSSDSDSSDSNSSSDSDSSDSDSSDSSDSDSSDSSN
SSDSSDSSDSSDSSDSSDSSDSKSDSSKSESDSSDSDSKSDSSDSNSSDSSDNSDSSDSS
NSSNSSDSSDSSDSSDSSSSSDSSNSSDSSDSSDSSNSSESSDSSDSSDSDSSDSSDSSN
SNSSDSDSSNSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSDSSDSS
NSSDSNDSSNSSDSSDSSNSSDSSNSSDSSDSSDSSDSDSSNSSDSSNSSDSSDSSNSSD
SSDSSDSSDGSDSDSSNRSDSSNSSDSSDSSDSSNSSDSSDSSDSNESSNSSDSSDSSNS
SDSDSSDSSNSSDSSDSSNSSDSSESSNSSDNSNSSDSSNSSDSSDSSDSSNSSDSSNSS
DSSNSSDSSDSNSSDSSDSSNSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSNSSD
SSNSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSSD
SSESSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSN
SSDSSDSSESSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSD
SSDSSDSSDSSDSSDSSDSSDSSDSSDSSDSNESSDSSDSSDSSDSSNSSDSSDSSDSSD
STSDSNDESDSQSKSGNGNNNGSDSDSDSEGSDSNHSTSDD
Sequence length 1301
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  ECM-receptor interaction   ECM proteoglycans
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness With Dentinogenesis Imperfecta deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 rs1553904404 N/A
denticles Denticles rs121912988, rs1560478758, rs1553904372, rs1553904512 N/A
Dentinogenesis Imperfecta dentinogenesis imperfecta type 2, dentinogenesis imperfecta type 3 rs121912987, rs121912989, rs1560480632, rs121912985, rs1560477489 N/A
DEAFNESS,NONSYNDROMIC SENSORINEURAL, WITH DENTINOGENESIS IMPERFECTA deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 rs121912986, rs121912987 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
hearing impairment Hearing impairment N/A N/A ClinVar
Metabolic Syndrome Serum omega-3 polyunsaturated fatty acid concentration in metabolic syndrome, Serum omega-6 to omega-3 polyunsaturated fatty acid ratio in metabolic syndrome, Serum docosahexaenoic fatty acid concentration in metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (35)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 27331624
Bone Diseases Metabolic Associate 24747200
Carcinogenesis Associate 30932369
Charcot Marie Tooth Disease Dominant Intermediate B Associate 17627120, 20949630
Deafness Associate 30682115
Dental Enamel Hypoplasia Associate 22243242
Dental Pulp Calcification Associate 17627120, 19026876, 20949630, 22243242, 23227268
Dentin Dysplasia Associate 16567553, 17627120, 19029076, 20949630
Dentin dysplasia type 1 Associate 15241678
Dentinogenesis Imperfecta Associate 15241678, 15592686, 16567553, 17686168, 18797159, 19026876, 19029076, 20146806, 20949630, 22125647, 22243242, 22310900, 23227268, 29512331