Aliases for ESAM Gene

Aliases for ESAM Gene

  • Endothelial Cell Adhesion Molecule 2 3 5
  • Endothelial Cell-Selective Adhesion Molecule 3 4
  • HUEL (C4orf1)-Interacting Protein 3
  • LP4791 Protein 3
  • 2310008D05Rik 3
  • W117m 3

External Ids for ESAM Gene

Previous GeneCards Identifiers for ESAM Gene

  • GC11M126623
  • GC11M126136
  • GC11M124656
  • GC11M124160
  • GC11M124128
  • GC11M124622
  • GC11M120565

Summaries for ESAM Gene

GeneCards Summary for ESAM Gene

ESAM (Endothelial Cell Adhesion Molecule) is a Protein Coding gene. Diseases associated with ESAM include Shwartzman Phenomenon. Among its related pathways are Cell surface interactions at the vascular wall and Cell adhesion_Endothelial cell contacts by non-junctional mechanisms. An important paralog of this gene is IGSF11.

UniProtKB/Swiss-Prot Summary for ESAM Gene

  • Can mediate aggregation most likely through a homophilic molecular interaction.

Gene Wiki entry for ESAM Gene

Additional gene information for ESAM Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ESAM Gene

Genomics for ESAM Gene

GeneHancer (GH) Regulatory Elements for ESAM Gene

Promoters and enhancers for ESAM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESAM on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ESAM

Top Transcription factor binding sites by QIAGEN in the ESAM gene promoter:
  • En-1
  • ITF-2
  • Nkx2-5
  • Nkx5-1
  • POU3F1
  • POU3F2
  • Roaz
  • STAT5A
  • Tal-1beta
  • ZID

Genomic Locations for ESAM Gene

Genomic Locations for ESAM Gene
chr11:124,752,583-124,762,327
(GRCh38/hg38)
Size:
9,745 bases
Orientation:
Minus strand
chr11:124,622,026-124,632,223
(GRCh37/hg19)
Size:
10,198 bases
Orientation:
Minus strand

Genomic View for ESAM Gene

Genes around ESAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESAM Gene

Proteins for ESAM Gene

  • Protein details for ESAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AP7-ESAM_HUMAN
    Recommended name:
    Endothelial cell-selective adhesion molecule
    Protein Accession:
    Q96AP7
    Secondary Accessions:
    • B4DVN8
    • Q96T50

    Protein attributes for ESAM Gene

    Size:
    390 amino acids
    Molecular mass:
    41176 Da
    Quaternary structure:
    • Interacts with BAIAP1.

    Alternative splice isoforms for ESAM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESAM Gene

Post-translational modifications for ESAM Gene

  • Glycosylation at Asn213, Asn236, Asn108, Asn169, and Asn307
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for ESAM Gene

No data available for DME Specific Peptides for ESAM Gene

Domains & Families for ESAM Gene

Gene Families for ESAM Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for ESAM Gene

Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin I-set
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ESAM Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58430, moderately similar to Endothelial cell-selective adhesion molecule (B4DVN8_HUMAN)
  • Endothelial cell-selective adhesion molecule (ESAM_HUMAN)
genes like me logo Genes that share domains with ESAM: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ESAM Gene

Function for ESAM Gene

Molecular function for ESAM Gene

UniProtKB/Swiss-Prot Function:
Can mediate aggregation most likely through a homophilic molecular interaction.

Phenotypes From GWAS Catalog for ESAM Gene

Gene Ontology (GO) - Molecular Function for ESAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26607202
GO:0098632 cell-cell adhesion mediator activity IDA 20298433
genes like me logo Genes that share ontologies with ESAM: view
genes like me logo Genes that share phenotypes with ESAM: view

Animal Models for ESAM Gene

MGI Knock Outs for ESAM:

Animal Model Products

  • Taconic Biosciences Mouse Models for ESAM

CRISPR Products

miRNA for ESAM Gene

miRTarBase miRNAs that target ESAM

Clone Products

  • Addgene plasmids for ESAM

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ESAM Gene

Localization for ESAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESAM Gene

Cell junction, adherens junction. Cell junction, tight junction. Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESAM gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 3
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ESAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IDA 20298433
GO:0005912 adherens junction IEA --
GO:0005923 bicellular tight junction IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ESAM: view

Pathways & Interactions for ESAM Gene

genes like me logo Genes that share pathways with ESAM: view

Pathways by source for ESAM Gene

1 GeneGo (Thomson Reuters) pathway for ESAM Gene
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
1 Qiagen pathway for ESAM Gene
  • Transendothelial Migration of Leukocytes

Gene Ontology (GO) - Biological Process for ESAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0030833 regulation of actin filament polymerization IDA 20298433
GO:0034613 cellular protein localization IDA 20298433
GO:0050900 leukocyte migration TAS --
genes like me logo Genes that share ontologies with ESAM: view

No data available for SIGNOR curated interactions for ESAM Gene

Drugs & Compounds for ESAM Gene

No Compound Related Data Available

Transcripts for ESAM Gene

mRNA/cDNA for ESAM Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ESAM

Alternative Splicing Database (ASD) splice patterns (SP) for ESAM Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - -
SP2: - -
SP3: -
SP4: -
SP5: -
SP6: - - - - - -
SP7: -

Relevant External Links for ESAM Gene

GeneLoc Exon Structure for
ESAM

Expression for ESAM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ESAM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ESAM Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.1), Platelet (16.8), and Placenta (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ESAM Gene



Protein tissue co-expression partners for ESAM Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ESAM

SOURCE GeneReport for Unigene cluster for ESAM Gene:

Hs.173840

mRNA Expression by UniProt/SwissProt for ESAM Gene:

Q96AP7-ESAM_HUMAN
Tissue specificity: Highly expressed in endothelial cells.

Evidence on tissue expression from TISSUES for ESAM Gene

  • Spleen(4.4)
  • Intestine(4.3)
  • Liver(4.3)
  • Nervous system(3.8)
  • Heart(3.4)
  • Lung(3.4)
  • Blood(3.1)
  • Muscle(2.5)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ESAM: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ESAM Gene

Orthologs for ESAM Gene

This gene was present in the common ancestor of chordates.

Orthologs for ESAM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESAM 31 30
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ESAM 31 30
  • 83.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ESAM 31 30
  • 82.91 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esam 30
  • 78.13 (n)
mouse
(Mus musculus)
Mammalia Esam 17 31 30
  • 78.12 (n)
oppossum
(Monodelphis domestica)
Mammalia ESAM 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESAM 31
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESAM 31 30
  • 55.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESAM 31
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esam 30
  • 52.12 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC562934 30
  • 50.35 (n)
esamb 31
  • 36 (a)
OneToMany
esama 31
  • 35 (a)
OneToMany
Species where no ortholog for ESAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ESAM Gene

ENSEMBL:
Gene Tree for ESAM (if available)
TreeFam:
Gene Tree for ESAM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ESAM: view image

Paralogs for ESAM Gene

(1) SIMAP similar genes for ESAM Gene using alignment to 4 proteins:

  • ESAM_HUMAN
  • B4DVN8_HUMAN
  • C9JIE7_HUMAN
  • F8WDW9_HUMAN

Pseudogenes.org Pseudogenes for ESAM Gene

genes like me logo Genes that share paralogs with ESAM: view

Variants for ESAM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ESAM Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
781240 Benign: not provided 124,754,349(-) G/T INTRON_VARIANT
rs12792040 - p.Arg273Cys

Additional dbSNP identifiers (rs#s) for ESAM Gene

Structural Variations from Database of Genomic Variants (DGV) for ESAM Gene

Variant ID Type Subtype PubMed ID
nsv556487 CNV loss 21841781

Variation tolerance for ESAM Gene

Residual Variation Intolerance Score: 61.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.25; 62.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESAM Gene

Human Gene Mutation Database (HGMD)
ESAM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESAM

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESAM Gene

Disorders for ESAM Gene

MalaCards: The human disease database

(1) MalaCards diseases for ESAM Gene - From: DISEASES

Disorder Aliases PubMed IDs
shwartzman phenomenon
  • shwartzman reaction
- elite association - COSMIC cancer census association via MalaCards
Search ESAM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ESAM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ESAM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ESAM Gene

Publications for ESAM Gene

  1. Cloning of an immunoglobulin family adhesion molecule selectively expressed by endothelial cells. (PMID: 11279107) Hirata Ki … Quertermous T (The Journal of biological chemistry 2001) 2 3 4 54
  2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 54

Products for ESAM Gene

Sources for ESAM Gene