GREM2

Chr 1

gremlin 2, DAN family BMP antagonist

Also known as: CKTSF1B2, DAND3, PRDC, STHAG9

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtTooth agenesis, selective, 9

Clinical highlights

Gene-disease validity (ClinGen)
tooth agenesis, selective, 9 · ADLimitednot for standalone diagnostic reporting
1
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.27
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.27LOEUF
pLI 0.032
Z-score 1.15
OE 0.49 (0.221.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.23Z-score
OE missense 0.68 (0.560.82)
78 obs / 115.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.49 (0.221.27)
00.351.4
Missense OE?0.68 (0.560.82)
00.61.4
Synonymous OE?0.76
01.21.6
LoF obs/exp: 3 / 6.1Missense obs/exp: 78 / 115.2Syn Z: 1.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GREM2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.