ESAM endothelial cell adhesion molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: ESAMprovided by HGNC
Official Full Name: endothelial cell adhesion moleculeprovided by HGNC
Primary source: HGNC:HGNC:17474
See related: Ensembl:ENSG00000149564 MIM:614281; AllianceGenome:HGNC:17474
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: W117m; NEDIHSS
Summary: Enables cell-cell adhesion mediator activity. Involved in several processes, including bicellular tight junction assembly; cell-cell adhesion; and regulation of actin filament polymerization. Located in cell-cell junction and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in placenta (RPKM 71.1), thyroid (RPKM 67.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (124753126..124762290, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (124781790..124790954, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (124623022..124632186, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Title: Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
sESAM levels associate with myocardial infarction, heart failure, and death after adjustment for demographic and clinical risk factors, but not after adjustment for kidney function.
Title: Soluble endothelial cell selective adhesion molecule and cardiovascular outcomes in patients with stable coronary disease: A report from the Heart and Soul Study.
ESAM is a novel human hematopoietic stem cell marker associated with a subset of human leukemias
Title: ESAM is a novel human hematopoietic stem cell marker associated with a subset of human leukemias.
Serum ESAM is higher in type 2 diabetes mellitus than in controls and parallels oxidative stress.
Title: Relationship of endothelial cell selective adhesion molecule to markers of oxidative stress in type 2 diabetes.
sESAM is associated with albuminuria and reduced kidney function in patients with coronary artery disease in both cross-sectional and longitudinal analyses.
Title: Role of soluble endothelial cell-selective adhesion molecule biomarker in albuminuria and kidney function changes in patients with coronary artery disease: the Heart and Soul Study.
ESAM regulates tumor metastasis through endothelial cell migration and tube formation in metastatic nodules.
Title: Role of endothelial cell-selective adhesion molecule in hematogeneous metastasis.
sESAM is a predictive biomarker and potential mediator of atherosclerosis.
Title: Differential associations between soluble cellular adhesion molecules and atherosclerosis in the Dallas Heart Study: a distinct role for soluble endothelial cell-selective adhesion molecule.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MedGen: C5830509 OMIM: 620371 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-R69114 (e-PCR)
- UniSTS:19984

RH94115 (e-PCR)
- UniSTS:89768

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cell-cell adhesion mediator activity	IBA Inferred from Biological aspect of Ancestor more info
enables cell-cell adhesion mediator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in maintenance of blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: endothelial cell-selective adhesion molecule

Names: 2310008D05Rik; HUEL (C4orf1)-interacting protein; LP4791 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_138961.3 → NP_620411.2 endothelial cell-selective adhesion molecule precursor

See identical proteins and their annotated locations for NP_620411.2

Status: VALIDATED

Source sequence(s)

AK075396, AP000866

Consensus CDS

CCDS8453.1

UniProtKB/Swiss-Prot

B4DVN8, Q96AP7, Q96T50

Related

ENSP00000278927.5, ENST00000278927.10

Conserved Domains (2) summary

smart00410
Location:166 → 241

IG_like; Immunoglobulin like

pfam07686
Location:40 → 150

V-set; Immunoglobulin V-set domain