Gene
ESAM
endothelial cell adhesion molecule
- HGNC 17474↗(opens in a new tab)
- Ensembl gene ENSG00000149564↗(opens in a new tab)
- NCBI Gene 90952↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q24.2
- Coordinates
- Chromosome 11: 124,753,126–124,762,290 (GRCh38)
- Exons
- 7 exons across 9.2 kb
- Protein
- 390 amino acids
- Also known as
- W117m
- MANE Select transcript
- ENST00000278927.10NM_138961.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads ESAM yet. The test sequences your whole genome, so your data includes it all the same.
How ESAM is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.8 kb of the gene's 9.2 kb; 1,173 of those bases code for the protein.
How a genome test reads ESAM
4
positions in ESAM where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 9.2 kb of ESAM, introns included, not only the 1.8 kb of exons.
Traits linked to ESAM
The Human Phenotype Ontology lists these as features of the rare conditions ESAM can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal CNS myelination
- Cavity within brain
- Colpocephaly
- Corpus callosum atrophy
- Delayed ability to sit
- Delayed speech and language development
- Dilated third ventricle
- Dystonia
Show 18 more traits
- Epilepsy
- Gliosis
- Grand mal seizures
- Hydranencephaly
- Hypsarrhythmia
- Inability to walk
- Increased reflexes
- Lateral ventricle dilatation
- More grooves in brain
- Multifocal cerebral white matter abnormalities
- Partial absence of the septum pellucidum
- Periventricular cysts
- Periventricular leukomalacia
- Reduced cerebral white matter volume
- Seizure affecting one half of brain
- Severe global developmental delay
- Too much cerebrospinal fluid in the brain
- Thin corpus callosum
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ESAM gene: endothelial cell adhesion molecule. Retrieved 17 October 2026, from https://dantelabs.com/genes/esam
Dante Labs. ESAM gene: endothelial cell adhesion molecule [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/esam
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