ESAM (endothelial cell adhesion molecule)

Gene

• Entrez ID: 90952
• Gene name: Endothelial cell adhesion molecule
• Gene symbol: ESAM
• Synonyms (NCBI Gene): NEDIHSS, W117m
• Chromosome: 11
• Chromosome location: 11q24.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016818	hsa-miR-335-5p	Microarray	18185580
MIRT970123	hsa-miR-1207-3p	CLIP-seq
MIRT970124	hsa-miR-1913	CLIP-seq
MIRT970125	hsa-miR-3173-3p	CLIP-seq
MIRT970126	hsa-miR-324-3p	CLIP-seq
MIRT970127	hsa-miR-4428	CLIP-seq
MIRT970128	hsa-miR-4639-3p	CLIP-seq
MIRT970129	hsa-miR-4710	CLIP-seq
MIRT970130	hsa-miR-4749-3p	CLIP-seq
MIRT970131	hsa-miR-4792	CLIP-seq
MIRT970132	hsa-miR-765	CLIP-seq
MIRT2221953	hsa-miR-3074-3p	CLIP-seq
MIRT2221954	hsa-miR-3660	CLIP-seq
MIRT2221955	hsa-miR-4270	CLIP-seq
MIRT2221956	hsa-miR-4441	CLIP-seq
MIRT2221957	hsa-miR-4526	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26607202, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20298433, 36996813
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	20298433
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0008104	Process	Intracellular protein localization	IDA	20298433
GO:0016020	Component	Membrane	IEA
GO:0030833	Process	Regulation of actin filament polymerization	IDA	20298433
GO:0032956	Process	Regulation of actin cytoskeleton organization	IDA	20298433
GO:0032991	Component	Protein-containing complex	IDA	26607202
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IMP	26607202
GO:0098609	Process	Cell-cell adhesion	IDA	20298433
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA
GO:0098632	Function	Cell-cell adhesion mediator activity	IDA	20298433

Other IDs

• MIM: 614281
• HGNC: 17474
• e!Ensembl: ENSG00000149564

Protein

• UniProt ID: Q96AP7
• Protein name: Endothelial cell-selective adhesion molecule
• Protein function: Can mediate aggregation most likely through a homophilic molecular interaction.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	36 → 150	Immunoglobulin V-set domain	Domain
  PF13927	Ig_3	155 → 228		Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in endothelial cells. {ECO:0000269|PubMed:11279107, ECO:0000269|PubMed:36996813}.
• Sequence:

  MISLPGPLVTNLLRFLFLGLSALAPPSRAQLQLHLPANRLQAVEGGEVVLPAWYTLHGEV
  SSSQPWEVPFVMWFFKQKEKEDQVLSYINGVTTSKPGVSLVYSMPSRNLSLRLEGLQEKD
  SGPYSCSVNVQDKQGKSRGHSIKTLELNVLVPPAPPSCRLQGVPHVGANVTLSCQSPRSK
  PAVQYQWDRQLPSFQTFFAPALDVIRGSLSLTNLSSSMAGVYVCKAHNEVGTAQCNVTLE
  VSTGPGAAVVAGAVVGTLVGLGLLAGLVLLYHRRGKALEEPANDIKEDAIAPRTLPWPKS
  SDTISKNGTLSSVTSARALRPPHGPPRPGALTPTPSLSSQALPSPRLPTTDGAHPQPISP
  IPGGVSSSGLSRMGAVPVMVPAQSQAGSLV

• Sequence length: 390

Pathways

KEGG:

Cell adhesion molecules
Leukocyte transendothelial migration

Reactome:

Cell surface interactions at the vascular wall

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity	Likely pathogenic	rs2497082100, rs2497079231, rs2497088037, rs2497078868, rs765306132	RCV003228087 RCV003228088 RCV003228089 RCV003228090 RCV003990635	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia	Anemia	BEFREE	31813828		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20406651, 22648254, 28888270		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20406651, 22648254, 28888270		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	26523992	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	31251941		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29804241		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	23649916		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	28949989		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	38008937	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	19323980		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	1605306	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	38008937	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	26774386		★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	38008937	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	38008937	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26774386		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	33539590	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23233446, 33539590	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	38008937	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	26523992	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20153339		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	38008937	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	34529670	Associate	★☆☆☆☆ Found in Text Mining only