DSPP dentin sialophosphoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: DSPPprovided by HGNC
Official Full Name: dentin sialophosphoproteinprovided by HGNC
Primary source: HGNC:HGNC:3054
See related: Ensembl:ENSG00000152591 MIM:125485; AllianceGenome:HGNC:3054
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DPP; DSP; DGI1; DMP3; DFNA39
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 4q22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (87608529..87616873)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (90935096..90943283)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (88529681..88538025)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.
Title: Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.
The Role of DSPP in Dentine Formation and Hereditary Dentine Defects.
Title: The Role of DSPP in Dentine Formation and Hereditary Dentine Defects.
A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Title: A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.
Title: Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.
Novel dentin sialophosphoprotein gene frameshift mutations affect dentin mineralization.
Title: Novel dentin sialophosphoprotein gene frameshift mutations affect dentin mineralization.
[Mutation of dentin sialophosphoprotein and hereditary malformations of dentin].
Title: [Mutation of dentin sialophosphoprotein and hereditary malformations of dentin].
Mouse Dspp frameshift model of human dentinogenesis imperfecta.
Title: Mouse Dspp frameshift model of human dentinogenesis imperfecta.
Significantly high expression levels of MMP20 and DSPP were observed in the malignant breast, colon, prostate, thyroid, and cervical neoplasms compared with their benign and normal counterparts. Furthermore, MMP20 levels increased with advanced stages of colon and thyroid cancers. DSPP expression increased significantly with tumor stage in all cancers examined.
Title: Survey of dentin sialophosphoprotein and its cognate matrix metalloproteinase-20 in human cancers.
Novel frameshift mutations in DSPP cause dentin dysplasia type II
Title: Novel frameshift mutations in DSPP cause dentin dysplasia type II.
A heterozygous c.50C to T (p.P17L) mutation was identified in exon 2 of the DSPP gene in hereditary dentinogenesis imperfecta
Title: [Analysis of DSPP gene mutation in a Chinese pedigree affected with hereditary dentinogenesis imperfecta].

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 MedGen: C1854146 OMIM: 605594 GeneReviews: Not available	Compare labs
Denticles MedGen: C1527284 OMIM: 125420 GeneReviews: Not available	Compare labs
Dentinogenesis imperfecta type 2 MedGen: C2973527 OMIM: 125490 GeneReviews: Not available	Compare labs
Dentinogenesis imperfecta type 3 MedGen: C0399378 OMIM: 125500 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-03-27) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2013-03-27) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC17626P1 (e-PCR)
- UniSTS:271640

D4S2691 (e-PCR)
- UniSTS:152390

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables collagen binding	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in dentinogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in odontoblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of odontoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: dentin sialophosphoprotein

Names: deafness, autosomal dominant 39; dentin phosphophoryn; dentin phosphoprotein; dentin phosphoryn; dentin sialoprotein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.