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FLASH GENE

Symbol

ESAM

contributors: mct - updated : 10-05-2023

HGNC name	endothelial cell adhesion molecule
HGNC id	17474

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DDIDE developmental delay, intellectual disability, epilepsy
Location	11q24.2      Physical location : 124.623.020 - 124.632.223
Synonym name	similar to endothelial cell-selective adhesion molecule
	HUEL (C4orf1)-interacting protein
	LP4791 protein
Synonym symbol(s)	W117m, 2310008D05Rik

DNA

TYPE	functioning gene
STRUCTURE	9.16 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_138961 7 - 1829 NP_620411 41 390 - 2016 26774386

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly   vessels         Homo sapiens Respiratory lung       highly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Epithelial barrier/lining       Muscular smooth vessel     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic megakaryocyte Blood/Hematopoietic platelet Cardiovascular endothelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	developing vascular system

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	V-type and C2-type immunoglobulin domain
	one hydrophic signal sequence
	one transmembrane region
	one cytoplasmic domain

HOMOLOGY

Homologene

FAMILY

immunoglobulin receptor family

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	plasma membrane,junction,tight
	plasma membrane,junction,adherens
text	colocalizing with markers of tight junction and restricted at the most apical tip of lateral cell surfaces

basic FUNCTION	playing a role in cell-cell interactions that is critical for vascular development or function
	plays essential roles in stress-induced hematopoiesis
	ESAM expression in hematopoietic progenitors is essential for erythroid recovery after a bone marrow (BM) injury
	ESAM had important roles in developing definitive hematopoiesis
	essential role for endothelial barrier integrity in a tissue-specific way
	regulates inflammatory cell adhesion and transmigration and promotes angiogenesis
	ESAM plays a mechanistic role in proper myocardial vascularization and the maintenance of Left ventricular diastolic function under basal and hemodynamic stress conditions
	encodes a TJ (tight junction) protein related to JAM proteins involved in the formation and maintenance of the BBB
	endothelial cell-selective adhesion molecule, which mediates homophilic interactions between endothelial cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

ESAM interacts with endoglin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DDIDE

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in some primary acute myeloid leukemia cells

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	is a useful marker for studying both human hematopoietic stem cells and leukemia cells
	candidate circulating biomarker to predict the risk of progression to kidney failure
Therapy target

ANIMAL & CELL MODELS

mice with endothelial cell-selective adhesion molecule deficiency develop coronary microvascular rarefaction and left ventricle diastolic dysfunction