GREM1

gremlin 1, DAN family BMP antagonist

Summary

This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

Known Variants264 total

rsidPosition (GRCh37)AllelesClassClinVar
rs140638915:33,009,478A/Tcoding sequence variant—
rs191936415:33,009,574C/Gcoding sequence variant—
rs980639115:33,009,780C/T—benign
rs1232463915:33,010,092G/T—benign
rs102715144815:33,010,155C/T—likely benign
rs55179587315:33,010,168C/G—likely benign
rs77334717815:33,010,172G/T—likely benign
rs254869748015:33,010,184G/A—likely benign
rs53746493515:33,010,242A/T—likely benign
rs55618765115:33,010,253G/A—benign
rs90517136915:33,010,279G/A—likely benign
rs89899547815:33,010,288C/G—likely benign
rs56814380315:33,010,292G/A—likely benign
rs126332539915:33,010,300C/G—likely benign
rs53557018715:33,010,315G/A—likely benign
rs57228247315:33,010,341C/G—likely benign
rs131878617615:33,010,371G/C—likely benign
rs229358215:33,010,412G/A—benign
rs320735715:33,010,483T/C—benign
rs229358115:33,010,736G/A—benign
rs716887715:33,011,127G/A—benign
rs980613715:33,011,641A/G—benign
rs7920743215:33,011,697G/C—benign
rs803496515:33,011,851G/T—benign
rs76867039515:33,011,876T/G—likely benign
rs1163598415:33,012,232T/C—benign
rs14642914015:33,012,418C/T—likely benign
rs7337693015:33,012,502A/Gupstream gene variantbenign
rs7337693115:33,012,638G/A—benign
rs1085176715:33,013,080A/G—benign
rs1185758615:33,013,219T/A—benign
rs477958615:33,013,770G/C—benign
rs716721415:33,014,295C/G—benign
rs7337693415:33,014,447A/G—benign
rs7892672615:33,014,770T/A—benign
rs152873415:33,015,206A/G—benign
rs749735415:33,015,402G/A—benign
rs992002415:33,015,460G/C—benign
rs1163055415:33,016,154A/G—benign
rs1051973815:33,016,478C/G—benign
rs7579949015:33,017,548A/G—benign
rs217826415:33,018,024A/G—benign
rs217826315:33,018,064A/G—benign
rs992079215:33,018,087A/C—benign
rs233910115:33,018,419G/A—benign
rs18833618115:33,018,887A/C—benign
rs287934115:33,018,901C/T—benign
rs2885551115:33,019,013G/A—benign
rs1107192815:33,019,544C/T—benign
rs2876838915:33,019,563T/C—benign
rs804179415:33,020,078T/C—benign
rs478003815:33,020,267C/T—benign
rs2861744015:33,020,879T/C—benign
rs1697330315:33,020,928T/G—benign
rs717805915:33,021,360C/G—benign
rs2843369115:33,021,390A/G—benign
rs718252215:33,021,467T/C—benign
rs5820211615:33,021,911C/G—benign
rs3533027615:33,022,090A/G—benign
rs18325752015:33,022,094A/G—likely benign
rs2856402915:33,022,208C/T—benign
rs1185439115:33,022,582T/A—benign
rs53802086115:33,022,868C/G—likely benign
rs254870729715:33,022,897C/T—likely benign
rs76824280515:33,022,898C/T—uncertain significance
rs77629614515:33,022,901A/G—uncertain significance
rs120076276715:33,022,908A/G—uncertain significance
rs128067756015:33,022,911C/T—uncertain significance
rs101718008915:33,022,912G/A—likely benign
rs143596831315:33,022,913G/A—uncertain significance
rs254870733415:33,022,917G/A—uncertain significance
rs254870733515:33,022,918A/G—likely benign
rs99741382515:33,022,921C/T—likely benign
rs76951100715:33,022,922C/G—uncertain significance
rs105406682815:33,022,924G/A—likely benign
rs254870735315:33,022,927T/A—likely benign
rs159585187915:33,022,930C/T—likely benign
rs77314568215:33,022,933C/T—likely benign
rs254870737015:33,022,934T/C—likely benign
rs76293257215:33,022,939G/A—likely benign
rs254870738715:33,022,946C/T—likely benign
rs14866896715:33,022,950C/A—uncertain significance
rs75963656915:33,022,951G/C—likely benign
rs205560145515:33,022,954T/G—likely benign
rs254870741315:33,022,956C/A—uncertain significance
rs254870741615:33,022,957T/C—likely benign
rs205560151215:33,022,959A/T—uncertain significance
rs254870742115:33,022,960A/G—likely benign
rs119498493115:33,022,967A/C—uncertain significance
rs19989405115:33,022,968A/G—uncertain significance
rs92797046815:33,022,978C/G—likely benign
rs254870743915:33,022,981A/G—likely benign
rs254870744415:33,022,983G/A—uncertain significance
rs128484639115:33,022,984T/A—likely benign
rs139459316315:33,022,987C/T—likely benign
rs205560229415:33,022,990C/A—likely benign
rs11126234115:33,022,994C/G—conflicting classifications of pathogenicity
rs77945497215:33,022,995C/T—uncertain significance
rs74652531515:33,022,996G/T—likely benign
rs254870748415:33,023,005G/A—likely benign

Showing 100 of 264 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.