GREM1 gremlin 1, DAN family BMP antagonist
Gene ID: 26585, updated on 24-Sep-2024Gene type: protein coding
Also known as: DRM; HMPS; MPSH; PIG2; CRAC1; CRCS4; DAND2; HMPS1; IHG-2; DUP15q; C15DUPq; GREMLIN; CKTSF1B1
- See all available tests in GTR for this gene
- Go to complete Gene record for GREM1
- Go to Variation Viewer for GREM1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analyses identify variants in developmental genes associated with hypospadias. GeneReviews: Not available | |
| Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. GeneReviews: Not available | |
| Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. GeneReviews: Not available | |
| Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. GeneReviews: Not available | |
| Meta-analysis of new genome-wide association studies of colorectal cancer risk. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2020-08-20) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2020-08-20) ClinGen Genome Curation Page |
Genomic context
- Location:
- 15q13.3
- Sequence:
- Chromosome: 15; NC_000015.10 (32718004..32745106)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GREM1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GREM1 homepage
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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