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Aliases for DSPP Gene

Aliases for DSPP Gene

  • Dentin Sialophosphoprotein 2 3 5
  • Dentin Phosphoprotein 3
  • Dentin Phosphophoryn 3
  • Dentin Sialoprotein 3
  • Dentin Phosphoryn 3
  • DFNA39 3
  • DMP3 3
  • DGI1 3
  • DPP 3
  • DSP 3

External Ids for DSPP Gene

Previous HGNC Symbols for DSPP Gene

  • DFNA39
  • DGI1

Previous GeneCards Identifiers for DSPP Gene

  • GC04P088687
  • GC04P088831
  • GC04P088988
  • GC04P088886
  • GC04P088529
  • GC04P084275

Summaries for DSPP Gene

Entrez Gene Summary for DSPP 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 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]

GeneCards Summary for DSPP Gene

DSPP (Dentin Sialophosphoprotein) is a Protein Coding gene. Diseases associated with DSPP include dentin dysplasia, type ii and dentinogenesis imperfecta, shields type ii. Among its related pathways are ECM proteoglycans and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent.

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

Regulatory Elements for DSPP Gene

Enhancers for DSPP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DSPP on UCSC Golden Path with GeneCards custom track

Genomic Location for DSPP Gene

Chromosome:
4
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

Genes around DSPP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSPP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSPP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Glycosylation at Asn 41, Asn 49, Asn 81, Asn 130, Asn 150, Asn 190, Asn 191, Asn 209, Asn 222, Asn 275, Asn 336, and Asn 387
  • Modification sites at PhosphoSitePlus

Other Protein References for DSPP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DSPP Gene

Domains & Families for DSPP Gene

Protein Domains for DSPP Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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:0005518 collagen binding TAS 9879917
genes like me logo Genes that share ontologies with DSPP: view
genes like me logo Genes that share phenotypes with DSPP: view

Human Phenotype Ontology for DSPP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for DSPP Gene

Pathways & Interactions for DSPP Gene

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

Pathways by source for DSPP Gene

2 Reactome pathways 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.ENSP00000261023%0d%0a9606.ENSP00000303351%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:0001503 ossification TAS 9879917
GO:0007275 multicellular organism development TAS 8995371
genes like me logo Genes that share ontologies with DSPP: view

No data available for SIGNOR curated interactions for DSPP Gene

Drugs & Compounds for DSPP Gene

(44) Drugs for DSPP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(100) Additional Compounds for DSPP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB 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 expression patterns with DSPP: view

Protein tissue co-expression partners for DSPP Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for DSPP Gene

Orthologs for DSPP Gene

This gene was present in the common ancestor of animals.

Orthologs for DSPP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DSPP 36
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DSPP 36
  • 32 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dspp 36
  • 61 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DSPP 36
  • 93 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F59B2.12 37
  • 20 (a)
Y113G7B.12 37
  • 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
rs121912986 Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1) 87,610,957(+) CCATT(A/C)CAGTA reference, missense
rs121912987 Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1), Dentinogenesis imperfecta, Shields type 3 (DGI3) 87,612,105(+) GGCAG(G/T)TTCCT reference, missense
rs36094464 Dentinogenesis imperfecta, Shields type 2 (DGI2) 87,612,388(+) GAGGA(A/T)GGCAA reference, missense
rs121912988 Dentin dysplasia 2 (DTDP2) 87,610,924(+) TTACA(G/T)ATTTT reference, missense
rs121912989 Dentinogenesis imperfecta, Shields type 2 (DGI2) 87,610,952(+) ATGGG(C/T)CATTC reference, missense

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

Variation tolerance for DSPP Gene

Gene Damage Index Score: 25.51; 99.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSPP Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSPP Gene

Disorders for DSPP Gene

MalaCards: The human disease database

(39) MalaCards diseases for DSPP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dentin dysplasia, type ii
  • dentin dysplasia, coronal
dentinogenesis imperfecta, shields type ii
  • capdepont teeth
dentinogenesis imperfecta, shields type iii
  • brandywine type dentinogenesis imperfecta
deafness, autosomal dominant 39, with dentinogenesis
  • deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
dentinogenesis imperfecta type 2
  • capdepont teeth
- elite association - COSMIC cancer census association via MalaCards
Search DSPP in MalaCards View complete list of genes associated with diseases

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.
  • 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}.
  • 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).

Relevant External Links for DSPP

Genetic Association Database (GAD)
DSPP
Human Genome Epidemiology (HuGE) Navigator
DSPP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSPP
genes like me logo Genes that share disorders with DSPP: view

No data available for Genatlas for DSPP Gene

Publications for DSPP Gene

  1. Molecular cloning of a human dentin sialophosphoprotein gene. (PMID: 10706475) Gu K. … Rutherford R.B. (Eur. J. Oral Sci. 2000) 3 4 23 67
  2. 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
  3. Dentin sialophosphoprotein (DSPP) is cleaved into its two natural dentin matrix products by three isoforms of bone morphogenetic protein-1 (BMP1). (PMID: 20079836) von Marschall Z. … Fisher L.W. (Matrix Biol. 2010) 3 23
  4. Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. (PMID: 18456718) Song Y.L. … Bian Z. (J. Med. Genet. 2008) 3 23
  5. Phenotypes and genotypes in 2 DGI families with different DSPP mutations. (PMID: 16920545) Song Y. … Bian Z. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006) 3 23

Products for DSPP Gene

Sources for DSPP Gene

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