DSPP
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DSPP (HGNC:3054) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dentin sialophosphoprotein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNA39, DGI1
Alias symbols
DMP3
%HI
61.42(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.27(Read more about gnomAD LOEUF score)
Cytoband
4q22.1
Genomic Coordinates
GRCh37/hg19: chr4:88529681-88538025 NCBI Ensembl UCSC
GRCh38/hg38: chr4:87608529-87616873 NCBI Ensembl UCSC
MANE Select Transcript
NM_014208.3 ENST00000651931.1 (Read more about MANE Select)
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. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35176
ClinGen Curation ID:
CCID:007040
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/27/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Several mutations have been identified in DSPP and are associated with autosomal dominant hereditary disorders of dentine formation (OMIM 125420, 125490, 125500). These have included missense and nonsense mutations at the first 3 amino acid positions, splicing mutations leading to skipping of exon 3, and frameshift mutations in exon 5 that lead to long stretches of hydrophobic residues (PMIDs: 18456718, 11175779, 22521702, 19029076, 20949630). However, these mutations have been found to cause a dominant-negative effect by von Marschall et al (2012, PMID:22392858). Haploinsufficiency has not been shown to be mechanism for any reported mutations.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No focal duplications of DSPP have been reported.

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)