ADGRE1 adhesion G protein-coupled receptor E1
Gene ID: 2015, updated on 17-Jun-2024Gene type: protein coding
Also known as: EMR1; TM7LN3
- See all available tests in GTR for this gene
- Go to complete Gene record for ADGRE1
- Go to Variation Viewer for ADGRE1 variants
Summary
This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Exploring the genetic basis of chronic periodontitis: a genome-wide association study. GeneReviews: Not available |
Genomic context
- Location:
- 19p13.3-p13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (6887579..6940450)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ADGRE1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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