ESAM endothelial cell adhesion molecule
Gene ID: 90952, updated on 17-Sep-2024Gene type: protein coding
Also known as: W117m; NEDIHSS
- See all available tests in GTR for this gene
- Go to complete Gene record for ESAM
- Go to Variation Viewer for ESAM variants
Summary
Enables cell-cell adhesion mediator activity. Involved in several processes, including bicellular tight junction assembly; cell-cell adhesion; and regulation of actin cytoskeleton organization. Located in cell-cell junction and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | not available |
Genomic context
- Location:
- 11q24.2
- Sequence:
- Chromosome: 11; NC_000011.10 (124753126..124762290, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ESAM variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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