Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ESAM Gene

Aliases for ESAM Gene

  • Endothelial Cell Adhesion Molecule 2 3 5
  • 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 Leukocyte Adhesion Deficiency. Among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Platelet activation, signaling and aggregation. An important paralog of this gene is CXADR.

UniProtKB/Swiss-Prot for ESAM Gene

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

Gene Wiki entry for ESAM Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESAM Gene

Genomics for ESAM Gene

Regulatory Elements for ESAM Gene

Enhancers for ESAM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ESAM on UCSC Golden Path with GeneCards custom track

Promoters for ESAM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ESAM on UCSC Golden Path with GeneCards custom track

Genomic Location for ESAM Gene

Chromosome:
11
Start:
124,752,583 bp from pter
End:
124,762,327 bp from pter
Size:
9,745 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

Proteomics data for ESAM Gene at MOPED

Post-translational modifications for ESAM Gene

  • Glycosylation at Asn 108, Asn 169, Asn 213, and Asn 236
  • Modification sites at PhosphoSitePlus

Other Protein References for ESAM Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for ESAM

No data available for DME Specific Peptides for ESAM Gene

Domains & Families for ESAM Gene

Protein Domains for ESAM Gene

Graphical View of Domain Structure for InterPro Entry

Q96AP7

UniProtKB/Swiss-Prot:

ESAM_HUMAN :
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
genes like me logo Genes that share domains with ESAM: view

Function for ESAM Gene

Molecular function for ESAM Gene

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

miRNA for ESAM Gene

miRTarBase miRNAs that target ESAM

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ESAM Gene COMPARTMENTS Subcellular localization image for ESAM gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 3
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ESAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005912 adherens junction IEA --
GO:0070062 extracellular exosome IDA 23376485
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

Interacting Proteins for ESAM Gene

Gene Ontology (GO) - Biological Process for ESAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016337 single organismal cell-cell adhesion IEA --
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

Unigene Clusters for ESAM Gene

Endothelial cell adhesion molecule:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ESAM

Expression for ESAM Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ESAM Gene



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.
genes like me logo Genes that share expression patterns with ESAM: view

Protein tissue co-expression partners for ESAM Gene

Primer Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ESAM 35
  • 82.91 (n)
  • 76.92 (a)
ESAM 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESAM 35
  • 83.89 (n)
  • 80.21 (a)
ESAM 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esam 35
  • 78.12 (n)
  • 72.82 (a)
Esam 16
Esam 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ESAM 35
  • 99.66 (n)
  • 99.74 (a)
ESAM 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esam 35
  • 78.13 (n)
  • 72.7 (a)
oppossum
(Monodelphis domestica)
Mammalia ESAM 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESAM 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESAM 35
  • 55.49 (n)
  • 49.45 (a)
ESAM 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESAM 36
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esam 35
  • 52.12 (n)
  • 48.44 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC562934 35
  • 50.35 (n)
  • 45.29 (a)
esama 36
  • 35 (a)
OneToMany
esamb 36
  • 36 (a)
OneToMany
Species with no ortholog for ESAM:
  • 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)

Paralogs for ESAM Gene

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

Pseudogenes.org Pseudogenes for ESAM Gene

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

Variants for ESAM Gene

Sequence variations from dbSNP and Humsavar for ESAM Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_049872 -
rs557856 -- 124,755,762(-) TAGGC(A/G)TGGCA intron-variant
rs61753651 -- 124,756,673(+) GTTCC(A/G)GGAGG intron-variant, nc-transcript-variant, reference, missense
rs112274650 -- 124,756,119(+) CCTTG(A/G)CTCCC intron-variant
rs143429201 -- 124,756,588(+) ATTTG(C/G)CTTGT intron-variant, nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1321n71 CNV Loss 21882294

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)

Relevant External Links for ESAM Gene

Human Gene Mutation Database (HGMD)
ESAM

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
leukocyte adhesion deficiency
  • leukocyte adhesion deficiency, type iii
- elite association - COSMIC cancer census association via MalaCards
Search ESAM in MalaCards View complete list of genes associated with diseases

Relevant External Links for ESAM

Genetic Association Database (GAD)
ESAM
Human Genome Epidemiology (HuGE) Navigator
ESAM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESAM
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 K. … Quertermous T. (J. Biol. Chem. 2001) 2 3 4 67
  2. The novel human HUEL (C4orf1) protein shares homology with the DNA- binding domain of the XPA DNA repair protein and displays nuclear translocation in a cell cycle-dependent manner. (PMID: 11906820) Sim D.L.C. … Chow V.T.K. (Int. J. Biochem. Cell Biol. 2002) 2 3
  3. 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. (PMID: 24177327) Park M. … Shlipak M.G. (Arterioscler. Thromb. Vasc. Biol. 2014) 3
  4. Relationship of endothelial cell selective adhesion molecule to markers of oxidative stress in type 2 diabetes. (PMID: 24456423) Kacso I.M. … Bondor C.I. (Scand. J. Clin. Lab. Invest. 2014) 3
  5. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3

Products for ESAM Gene

Sources for ESAM Gene

Content