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DSPP dentin sialophosphoprotein [ Homo sapiens (human) ]

Gene ID: 1834, updated on 23-Nov-2021

Summary

Official Symbol
DSPPprovided by HGNC
Official Full Name
dentin sialophosphoproteinprovided by HGNC
Primary source
HGNC:HGNC:3054
See related
Ensembl:ENSG00000152591 MIM:125485
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
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Genomic context

See DSPP in Genome Data Viewer
Location:
4q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (87608529..87616873)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (88529681..88538025)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377321 Neighboring gene SPARC like 1 Neighboring gene uncharacterized LOC105377323 Neighboring gene dentin matrix acidic phosphoprotein 1 Neighboring gene Sharpr-MPRA regulatory region 8695

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
GWAS of dental caries patterns in the permanent dentition.
GeneReviews: Not available

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
PubMed 
involved_in multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
involved_in odontoblast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ossification TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of odontoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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.

Genomic

  1. NG_011595.1 RefSeqGene

    Range
    5001..13345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1242

mRNA and Protein(s)

  1. NM_014208.3NP_055023.2  dentin sialophosphoprotein preproprotein

    See identical proteins and their annotated locations for NP_055023.2

    Status: REVIEWED

    Source sequence(s)
    AC093895, AF163151
    Consensus CDS
    CCDS43248.1
    UniProtKB/Swiss-Prot
    Q9NZW4
    Related
    ENSP00000498766.1, ENST00000651931.1
    Conserved Domains (1) summary
    PHA02664
    Location:217343
    PHA02664; hypothetical protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    87608529..87616873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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