Gene Gene information from NCBI Gene database.
Entrez ID 64388
Gene name Gremlin 2, DAN family BMP antagonist
Gene symbol GREM2
Synonyms (NCBI Gene)
CKTSF1B2DAND3PRDCSTHAG9
Chromosome 1
Chromosome location 1q43
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 bel
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs373941682 G>A Pathogenic Coding sequence variant, missense variant
rs1057519288 C>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
148
miRTarBase ID miRNA Experiments Reference
MIRT029946 hsa-miR-26b-5p Microarray 19088304
MIRT493733 hsa-miR-6087 PAR-CLIP 20371350
MIRT493732 hsa-miR-3960 PAR-CLIP 20371350
MIRT493730 hsa-miR-8072 PAR-CLIP 20371350
MIRT493731 hsa-miR-4467 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0005125 Function Cytokine activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA
GO:0005615 Component Extracellular space IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608832 17655 ENSG00000180875
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H772
Protein name Gremlin-2 (Cysteine knot superfamily 1, BMP antagonist 2) (DAN domain family member 3) (Protein related to DAN and cerberus)
Protein function Cytokine that inhibits the activity of BMP2 and BMP4 in a dose-dependent manner, and thereby modulates signaling by BMP family members. Contributes to the regulation of embryonic morphogenesis via BMP family members. Antagonizes BMP4-induced sup
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03045 DAN 50 160 DAN domain Domain
Sequence
Sequence length 168
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  TGF-beta signaling pathway   Signaling by BMP
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Tooth agenesis, selective, 9 Pathogenic rs1057519288 RCV000415615
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GREM2-related disorder Likely benign rs752063931 RCV003952240
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 34477243
Alzheimer Disease Associate 22710270
Blister Associate 35008956
Bohring syndrome Associate 39614348
Carcinoma Renal Cell Associate 35945780
Colorectal Neoplasms Associate 35619575
Meningioma Inhibit 31039818
Meningioma Associate 38446374
Neoplasms Squamous Cell Associate 34477137
Osteoporosis Associate 32297643