DMP1

dentin matrix acidic phosphoprotein 1

Summary

Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Known Variants199 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37931464:88,570,472G/Cupstream gene variant—
rs1879303214:88,571,240A/Cupstream gene variant—
rs26277024:88,577,419T/C—benign
rs26154804:88,577,573A/G—benign
rs1048938344:88,577,645A/Gmissense variantpathogenic
rs15781520744:88,577,646T/A—pathogenic
rs10270203544:88,577,648A/T—pathogenic
rs3735626394:88,577,655G/C—uncertain significance
rs7453960744:88,577,684T/G—uncertain significance
rs3696263474:88,577,716G/A—likely benign
rs46938514:88,577,754A/G—benign
rs13200349124:88,578,171C/T—likely benign
rs1814908434:88,578,181T/G—uncertain significance
rs5877766974:88,578,183G/Csplice region variantpathogenic
rs11913577764:88,578,205G/C—uncertain significance
rs1501051084:88,578,208T/C—likely benign
rs2022100044:88,578,220G/A—conflicting classifications of pathogenicity
rs7666015034:88,578,227G/A—pathogenic
rs3676817624:88,578,244A/G—likely benign
rs26154794:88,578,310A/G—benign
rs15457354:88,578,487C/T—benign
rs1462956994:88,580,054A/G—likely benign
rs17287852984:88,580,361C/T—likely benign
rs3695508644:88,580,393A/C—conflicting classifications of pathogenicity
rs1414809964:88,580,405G/T—conflicting classifications of pathogenicity
rs10483270094:88,580,419T/C—likely benign
rs5748445524:88,580,564A/C—likely benign
rs1922119904:88,580,580C/G—uncertain significance
rs17287936044:88,580,585G/A—likely benign
rs14740025094:88,580,605G/A—uncertain significance
rs1444710604:88,580,606C/T—conflicting classifications of pathogenicity
rs7647866984:88,580,618C/G—uncertain significance
rs46938534:88,580,810T/C—benign
rs7481115864:88,583,101C/T—likely benign
rs754755094:88,583,107A/G—uncertain significance
rs7723597274:88,583,110C/A—likely benign
rs7468460454:88,583,113G/A—likely pathogenic
rs7650154474:88,583,126C/T—uncertain significance
rs100190094:88,583,135A/Tmissense variantbenign
rs7605646944:88,583,139C/G—uncertain significance
rs7541996664:88,583,160G/C—uncertain significance
rs1118249084:88,583,174C/G—uncertain significance
rs14226548414:88,583,176A/G—likely benign
rs7583777524:88,583,189C/A—uncertain significance
rs1447730844:88,583,193C/T—likely benign
rs8860596854:88,583,219A/G—uncertain significance
rs1485437924:88,583,242C/T—conflicting classifications of pathogenicity
rs1428804654:88,583,243G/A—uncertain significance
rs3679163984:88,583,248A/G—likely benign
rs10570603834:88,583,262A/G—uncertain significance
rs1472651414:88,583,278C/T—likely benign
rs1407191824:88,583,279G/A—uncertain significance
rs24759420934:88,583,281T/C—likely benign
rs21100163414:88,583,282G/A—uncertain significance
rs12054062874:88,583,290C/T—likely benign
rs8860596864:88,583,300A/C—uncertain significance
rs24759421944:88,583,303G/A—uncertain significance
rs7801104764:88,583,332G/A—conflicting classifications of pathogenicity
rs21100164384:88,583,342G/A—uncertain significance
rs1445803194:88,583,351G/A—likely benign
rs2017618024:88,583,354G/T—conflicting classifications of pathogenicity
rs3701538624:88,583,358C/T—uncertain significance
rs7600123284:88,583,361T/C—uncertain significance
rs7530439594:88,583,375G/T—pathogenic
rs17289186324:88,583,377G/C—uncertain significance
rs7516581814:88,583,398C/G—uncertain significance
rs794022704:88,583,405C/A—benign
rs14193604804:88,583,410T/C—likely benign
rs11744601964:88,583,412C/T—uncertain significance
rs7506103404:88,583,415C/T—uncertain significance
rs2005491554:88,583,447C/T—uncertain significance
rs7476988934:88,583,448G/A—uncertain significance
rs5297318624:88,583,472G/A—uncertain significance
rs12997850964:88,583,509G/T—uncertain significance
rs21100166534:88,583,513G/A—uncertain significance
rs346827074:88,583,530G/A—likely benign
rs7535996614:88,583,533G/A—likely benign
rs7547866404:88,583,539C/T—likely benign
rs3698984144:88,583,548C/T—likely benign
rs14574216164:88,583,549G/A—uncertain significance
rs7583531434:88,583,554C/T—likely benign
rs1167327694:88,583,569G/A—likely benign
rs24759434104:88,583,575G/T—uncertain significance
rs3676954734:88,583,588C/A—uncertain significance
rs21100167494:88,583,590A/C—likely benign
rs3730519244:88,583,604G/A—uncertain significance
rs7607614264:88,583,635A/G—likely benign
rs7665609374:88,583,638C/A—likely benign
rs2014138864:88,583,639A/G—uncertain significance
rs1475526634:88,583,654T/C—likely benign
rs12048847994:88,583,676C/A—uncertain significance
rs7567586384:88,583,683T/C—likely benign
rs24759441294:88,583,709T/C—uncertain significance
rs5718204594:88,583,717C/G—uncertain significance
rs7693822674:88,583,720A/C—uncertain significance
rs7792581974:88,583,722T/A—uncertain significance
rs3773388774:88,583,739A/C—uncertain significance
rs14159828394:88,583,740G/A—likely benign
rs3734572154:88,583,744C/T—uncertain significance
rs1452371464:88,583,745G/A—conflicting classifications of pathogenicity

Showing 100 of 199 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.