GREM2

gremlin 2, 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. [provided by RefSeq, Jul 2008]

Known Variants19 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs374808640	1:240,656,363	G/C	—	uncertain significance
rs1057519288	1:240,656,368	C/A	missense variant	pathogenic
rs763852486	1:240,656,513	C/T	—	uncertain significance
rs765293721	1:240,656,526	C/T	—	uncertain significance
rs201492063	1:240,656,538	G/C	—	uncertain significance
rs142343894	1:240,656,550	G/C	—	uncertain significance
rs752063931	1:240,656,551	C/T	—	likely benign
rs765811083	1:240,656,598	G/C	—	uncertain significance
rs1677311910	1:240,656,622	C/A	—	uncertain significance
rs533988435	1:240,656,667	C/T	—	uncertain significance
rs373941682	1:240,656,738	G/A	missense variant	pathogenic
rs371694788	1:240,656,746	G/T	—	uncertain significance
rs1333951923	1:240,656,759	G/C	—	uncertain significance
rs201326333	1:240,656,769	A/C	—	uncertain significance
rs61832588	1:240,672,803	T/G	—	benign
rs12129547	1:240,695,255	C/T	downstream gene variant	—
rs10495471	1:240,706,107	A/G	intron variant	—
rs1934341	1:240,721,552	C/A	—	—
rs572995086	1:240,756,302	G/A	—	—

Gene information from NCBI Gene. Variant classifications from ClinVar.