Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	90952
Gene name	Endothelial cell adhesion molecule
Gene symbol	ESAM
Synonyms (NCBI Gene)	NEDIHSSW117m
Chromosome	11
Chromosome location	11q24.2

Show/Hide all (16)

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

Show/Hide all (25)

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

MIM	HGNC	e!Ensembl
614281	17474	ENSG00000149564

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

Interactions

View interactions

	KEGG		Reactome
	Cell adhesion molecules Leukocyte transendothelial migration		Cell surface interactions at the vascular wall

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity	Likely pathogenic	rs2497082100, rs2497079231, rs2497088037, rs2497078868, rs765306132	RCV003228087 RCV003228088 RCV003228089 RCV003228090 RCV003990635
See cases	Likely pathogenic	rs2497082100, rs2497079231, rs2497088037, rs2497078868	RCV003238898 RCV003238899 RCV003238900 RCV003238901

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs77048222	RCV005911764
Lung cancer	Benign	rs77048222	RCV005911766
Sarcoma	Benign	rs77048222	RCV005911765
Uterine corpus endometrial carcinoma	Benign	rs77048222	RCV005911767

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atherosclerosis	Associate	26523992
Developmental Disabilities	Associate	38008937
Disease	Associate	38008937
Hodgkin Disease	Associate	1605306
Hydrocephalus	Associate	38008937
Inflammation	Stimulate	16412024
Intracranial Hemorrhages	Associate	38008937
Language Development Disorders	Associate	38008937
Leukemia	Associate	33539590
Leukemia Myeloid Acute	Associate	23233446, 33539590
Mental Disorders	Associate	38008937
Muscle Spasticity	Associate	38008937
Myeloproliferative Disorder Chronic with Eosinophilia	Associate	38008937
Myocardial Ischemia	Associate	26523992
Renal Insufficiency	Associate	35618095
Seizures	Associate	38008937
Sleep Apnea Obstructive	Associate	34529670

ESAM (endothelial cell adhesion molecule)