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Aliases for DSPP Gene

Aliases for DSPP Gene

  • Dentin Sialophosphoprotein 2 3
  • DFNA39 3 6
  • DTDP2 3 6
  • DGI1 3 6
  • DPP 3 6
  • Dentin Phosphoprotein 3
  • Dentin Phosphophoryn 3
  • Dentin Sialoprotein 3
  • Dentin Phosphoryn 3
  • DMP3 3
  • DSP 3

External Ids for DSPP Gene

Previous Symbols for DSPP Gene

  • DFNA39
  • DGI1

Summaries for DSPP Gene

Entrez Gene Summary for DSPP Gene

  • This gene encodes two principal proteins of the dentin extracellular matrix of the tooth. The preproprotein is secreted by odontoblasts and cleaved into dentin sialoprotein and dentin phosphoprotein. Dentin phosphoprotein is thought to be involved in the biomineralization process of dentin. Mutations in this gene have been associated with dentinogenesis imperfecta-1; in some individuals, dentinogenesis imperfecta occurs in combination with an autosomal dominant form of deafness. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DSPP Gene

DSPP (Dentin Sialophosphoprotein) is a Protein Coding gene. Diseases associated with DSPP include dentinogenesis imperfecta, shields type ii and vaginal discharge. Among its related pathways are ERK Signaling and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and collagen binding.

UniProtKB/Swiss-Prot for DSPP Gene

  • 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

Gene Wiki entry for DSPP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSPP Gene

Genomics for DSPP Gene

Genomic Location for DSPP Gene

Start:
87,608,529 bp from pter
End:
87,616,910 bp from pter
Size:
8,382 bases
Orientation:
Plus strand

Genomic View for DSPP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DSPP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSPP Gene

Regulatory Elements for DSPP Gene

Proteins for DSPP Gene

  • Protein details for DSPP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZW4-DSPP_HUMAN
    Recommended name:
    Dentin sialophosphoprotein
    Protein Accession:
    Q9NZW4
    Secondary Accessions:
    • A8MUI0
    • O95815

    Protein attributes for DSPP Gene

    Size:
    1301 amino acids
    Molecular mass:
    131151 Da
    Quaternary structure:
    • Interacts with FBLN7.

neXtProt entry for DSPP Gene

Proteomics data for DSPP Gene at MOPED

Post-translational modifications for DSPP Gene

  • DSP is glycosylated
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn41, Asn49, Asn81, Asn130, Asn150, Asn190, Asn191, Asn209, Asn222, Asn275, Asn336, and Asn387

Other Protein References for DSPP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DSPP Gene

Domains for DSPP Gene

Protein Domains for DSPP Gene

ProtoNet:
genes like me logo Genes that share domains with DSPP: view

No data available for Gene Families and UniProtKB/Swiss-Prot for DSPP Gene

Function for DSPP Gene

Molecular function for DSPP Gene

GENATLAS Biochemistry: dentin sialophosphoprotein,precursor of dentin sialoprotein (DSP) and dentin phosphoprotein,non collagenous components of the dentin extra-cellular matrix,tooth specific,encoded by a bicistronic transcript
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for DSPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 8995371
GO:0005509 calcium ion binding TAS 9879917
GO:0005518 collagen binding TAS 9879917
genes like me logo Genes that share ontologies with DSPP: view

Phenotypes for DSPP Gene

MGI mutant phenotypes for DSPP:
inferred from 1 alleles
GenomeRNAi human phenotypes for DSPP:
genes like me logo Genes that share phenotypes with DSPP: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for DSPP Gene

Localization for DSPP Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSPP Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DSPP Gene COMPARTMENTS Subcellular localization image for DSPP gene
Compartment Confidence
extracellular 5
nucleus 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DSPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005737 cytoplasm IDA 11856645
genes like me logo Genes that share ontologies with DSPP: view

Pathways for DSPP Gene

genes like me logo Genes that share pathways with DSPP: view

Pathways by source for DSPP Gene

2 GeneGo (Thomson Reuters Life Sciences Research) pathways for DSPP Gene
1 Qiagen pathway for DSPP Gene
1 Cell Signaling Technology pathway for DSPP Gene

Interacting Proteins for DSPP Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000282478%0d%0a9606.ENSP00000303351%0d%0a9606.ENSP00000261023%0d%0a
Selected Interacting proteins: ENSP00000282478 for DSPP Gene via STRING

Gene Ontology (GO) - Biological Process for DSPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 8995371
GO:0001503 ossification TAS 9879917
GO:0007275 multicellular organismal development TAS 8995371
GO:0030198 extracellular matrix organization TAS --
GO:0031214 biomineral tissue development IEA --
genes like me logo Genes that share ontologies with DSPP: view

Compounds for DSPP Gene

(1) HMDB Compounds for DSPP Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(143) Novoseek inferred chemical compound relationships for DSPP Gene

Compound -log(P) Hits PubMed IDs
scotchbond 94.9 121
gluma 93.4 138
syntac 93 77
phosphoric acid 91.2 212
scotchbond 2 90.1 45
genes like me logo Genes that share compounds with DSPP: view

Transcripts for DSPP Gene

mRNA/cDNA for DSPP Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DSPP Gene

Dentin sialophosphoprotein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DSPP Gene

No ASD Table

Relevant External Links for DSPP Gene

GeneLoc Exon Structure for
DSPP
ECgene alternative splicing isoforms for
DSPP

Expression for DSPP Gene

mRNA expression in normal human tissues for DSPP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DSPP Gene

SOURCE GeneReport for Unigene cluster for DSPP Gene Hs.678914

mRNA Expression by UniProt/SwissProt for DSPP Gene

Q9NZW4-DSPP_HUMAN
Tissue specificity: Expressed in teeth. DPP is synthesized by odontoblast and transiently expressed by pre-ameloblasts
genes like me logo Genes that share expressions with DSPP: view

Orthologs for DSPP Gene

This gene was present in the common ancestor of animals.

Orthologs for DSPP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSPP 37
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DSPP 37
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dspp 16
Dspp 37
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DSPP 37
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F59B2.12 38
  • 20 (a)
Y113G7B.12 38
  • 29 (a)
Species with no ortholog for DSPP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for DSPP Gene

ENSEMBL:
Gene Tree for DSPP (if available)
TreeFam:
Gene Tree for DSPP (if available)

Paralogs for DSPP Gene

No data available for Paralogs for DSPP Gene

Variants for DSPP Gene

Sequence variations from dbSNP and Humsavar for DSPP Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1599582 -- 87,606,612(+) ttagt(C/T)tggaa upstream-variant-2KB
rs2126456 -- 87,611,678(+) TTTGC(C/T)TCTGT intron-variant
rs2615487 -- 87,609,311(+) ACACG(C/T)ATCAC intron-variant
rs2615488 -- 87,609,601(+) TTCCC(C/T)CTCAG intron-variant
rs2615489 -- 87,616,585(+) AACCC(A/G)TAAGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DSPP Gene

Variant ID Type Subtype PubMed ID
esv2581729 CNV Deletion 19546169
esv2727945 CNV Deletion 23290073
esv2727946 CNV Deletion 23290073
esv2727947 CNV Deletion 23290073

Relevant External Links for DSPP Gene

HapMap Linkage Disequilibrium report
DSPP
Human Gene Mutation Database (HGMD)
DSPP

Disorders for DSPP Gene

(4) OMIM Diseases for DSPP Gene (125485)

UniProtKB/Swiss-Prot

DSPP_HUMAN
  • Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]: A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta. {ECO:0000269 PubMed:11175790}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dentinogenesis imperfecta, Shields type 2 (DGI2) [MIM:125490]: 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. {ECO:0000269 PubMed:11175779, ECO:0000269 PubMed:14758537, ECO:0000269 PubMed:17627120, ECO:0000269 PubMed:21029264}. Note=The disease is caused by mutations 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).
  • Dentinogenesis imperfecta, Shields type 3 (DGI3) [MIM:125500]: 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. {ECO:0000269 PubMed:15592686, ECO:0000269 PubMed:18521831, ECO:0000269 PubMed:23509818}. Note=The disease is caused by mutations 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).
  • Dentin dysplasia 2 (DTDP2) [MIM:125420]: 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. {ECO:0000269 PubMed:12354781, ECO:0000269 PubMed:18521831}. Note=The disease is caused by mutations 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). {ECO:0000269 PubMed:18521831, ECO:0000269 PubMed:22392858}.

(95) Novoseek inferred disease relationships for DSPP Gene

Disease -log(P) Hits PubMed IDs
dentinogenesis imperfecta 89.4 89
dentin dysplasia 89.2 77
dentin sensitivity 89.2 63
dgi-ii 85 20
hereditary opalescent dentin 81.7 14

Relevant External Links for DSPP

Genetic Association Database (GAD)
DSPP
Human Genome Epidemiology (HuGE) Navigator
DSPP
genes like me logo Genes that share disorders with DSPP: view

Publications for DSPP Gene

  1. Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determination. (PMID: 8995371) MacDougall M. … Gu T.T. (J. Biol. Chem. 1997) 2 3 23
  2. DSPP mutation in dentinogenesis imperfecta Shields type II. (PMID: 11175779) Zhang X. … Shen Y. (Nat. Genet. 2001) 3 4 23
  3. Human dentin phosphophoryn nucleotide and amino acid sequence. (PMID: 9879917) Gu K. … Ritchie H.H. (Eur. J. Oral Sci. 1998) 3 4 23
  4. Molecular cloning of a human dentin sialophosphoprotein gene. (PMID: 10706475) Gu K. … Rutherford R.B. (Eur. J. Oral Sci. 2000) 3 4 23
  5. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. (PMID: 18521831) McKnight D.A. … Fisher L.W. (Hum. Mutat. 2008) 3 4 23

Products for DSPP Gene

Sources for DSPP Gene

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