gremlin 1, DAN family BMP antagonist
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Inherited polyposis and early onset colorectal cancer - germline testing
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCAKUT
GI tract tumours
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
UnknownUnexplained kidney failure in young people
Unexplained young onset end-stage renal disease - additional genes
UnknownVACTERL-like phenotypes
colorectal cancer
hereditary mixed polyposis syndrome
colorectal carcinoma
benign colon neoplasm
polyp of colon
colonic neoplasm
rectosigmoid junction neoplasm
colon carcinoma
polyp
benign neoplasm of rectum
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Gremlin-1
Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signaling in a dose-dependent manner (By similarity). Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro) (PubMed:27036124). Acts as inhibitor of monocyte chemotaxis. Can inhibit the growth or viability of normal cells but not transformed cells when is overexpressed (By similarity)
Curated MONDO disease pages that list GREM1 among their top associated genes.
GREM1 · O60565
Mean pLDDT
73.5/ 100
Confident
184 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
