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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ESAM Gene

protein-coding   GIFtS: 62
GCID: GC11M124622

Endothelial Cell Adhesion Molecule

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Endothelial Cell Adhesion Molecule1 2
2310008D05Rik2
W117m2
Endothelial Cell-Selective Adhesion Molecule2
HUEL (C4orf1)-Interacting Protein2
LP4791 Protein2

External Ids:    HGNC: 174741   Entrez Gene: 909522   Ensembl: ENSG000001495647   OMIM: 6142815   UniProtKB: Q96AP73   

Export aliases for ESAM gene to outside databases

Previous GC identifers: GC11M126623 GC11M126136 GC11M124656 GC11M124160 GC11M124128 GC11M120565


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ESAM Gene: 
ESAM (endothelial cell adhesion molecule) is a protein-coding gene. Diseases associated with ESAM include bronchopulmonary dysplasia, and endotheliitis, and among its related super-pathways are Cell adhesion Endothelial cell contacts by non-junctional mechanisms and Platelet activation, signaling and aggregation. An important paralog of this gene is CLMP.

UniProtKB/Swiss-Prot: ESAM_HUMAN, Q96AP7
Function: Can mediate aggregation most likely through a homophilic molecular interaction (By similarity)

Gene Wiki entry for ESAM Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ESAM gene promoter:
         POU3F1   STAT5A   Nkx2-5   Nkx5-1   POU3F2   Tal-1beta   Roaz   ZID   ITF-2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidESAM promoter sequence
   Search SABiosciences Chromatin IP Primers for ESAM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ESAM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q24.2   Ensembl cytogenetic band:  11q24.2   HGNC cytogenetic band: 11q24.2

ESAM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ESAM gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M124622:  view genomic region     (about GC identifiers)

Start:
124,622,026 bp from pter      End:
124,632,223 bp from pter
Size:
10,198 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ESAM_HUMAN, Q96AP7 (See protein sequence)
Recommended Name: Endothelial cell-selective adhesion molecule precursor  
Size: 390 amino acids; 41176 Da
Subunit: Interacts with BAIAP1 (By similarity)
Subcellular location: Cell junction, adherens junction (By similarity). Cell junction, tight junction (By
similarity). Cell membrane; Single-pass type I membrane protein (By similarity)
Secondary accessions: Q96T50

Explore the universe of human proteins at neXtProt for ESAM: NX_Q96AP7

Explore proteomics data for ESAM at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96AP7

  • ESAM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ESAM Protein Expression
    REFSEQ proteins: NP_620411.2  
    ENSEMBL proteins: 
     ENSP00000406689   ENSP00000389235   ENSP00000278927   ENSP00000415893   ENSP00000410351  
    Reactome Protein details: Q96AP7
    Human Recombinant Protein Products for ESAM: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ESAM
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ESAM
    OriGene Protein Over-expression Lysate for ESAM
    OriGene MassSpec for ESAM 
    OriGene Custom Protein Services for ESAM
    GenScript Custom Purified and Recombinant Proteins Services for ESAM
    Novus Biologicals ESAM Proteins
    Novus Biologicals ESAM Lysates
    Sino Biological Recombinant Protein for ESAM
    Sino Biological Cell Lysate for ESAM 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ESAM 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005912adherens junction IEA--
    GO:0005923tight junction IEA--
    GO:0016021integral to membrane IEA--

    ESAM for ontologies           About GeneDecksing



    ESAM Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals ESAM Antibodies
    Abcam antibodies for ESAM
    Cloud-Clone Corp. Antibodies for ESAM 
    Search ThermoFisher Antibodies for ESAM
    LSBio Antibodies in human, mouse, rat for ESAM 

    Assay Products for ESAM: 
    Browse Kits and Assays available from EMD Millipore
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    R&D Systems Proteome Profiler Antibody Arrays for ESAM
    GenScript Custom Assay Services for ESAM
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ESAM 
    Cloud-Clone Corp. CLIAs for ESAM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing
    VSET: Immunoglobulin superfamily / V-set domain containing

    5 InterPro protein domains:
     IPR003598 Ig_sub2
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q96AP7

    ProtoNet protein and cluster: Q96AP7

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: ESAM_HUMAN, Q96AP7
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    ESAM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ESAM_HUMAN, Q96AP7
    Function: Can mediate aggregation most likely through a homophilic molecular interaction (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    ESAM for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ESAM:
     Decreased influenza A virus in  Decreased nuclei size in G2M 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Esam):
     cardiovascular system  cellular  growth/size  immune system  tumorigenesis 

    ESAM for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Esamtm1Dvst for ESAM

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ESAM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ESAM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ESAM 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ESAM 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ESAM
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate ESAM:
    hsa-miR-877* hsa-miR-185 hsa-miR-4306 hsa-miR-454*
    SwitchGear 3'UTR luciferase reporter plasmidESAM 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ESAM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ESAM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ESAM
    Sirion Biotech Customized adenovirus for overexpression of ESAM

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ESAM (see all 8)
    OriGene ORF clones in mouse, rat for ESAM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ESAM (NM_138961)
    Sino Biological Human cDNA Clone for ESAM
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESAM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESAM
    Sirion Biotech Customized lentivirus for stable overexpression of ESAM 
                         Customized lentivirus expression plasmids for stable overexpression of ESAM 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ESAM
    Search LifeMap BioReagents cell lines for ESAM
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESAM


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ESAM About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cell adhesion Endothelial cell contacts by non-junctional mechanisms1.00
    2Platelet activation, signaling and aggregation
    Hemostasis0.43
    3Integrin Pathway
    Transendothelial Migration of Leukocytes0.38
    4Leukocyte transendothelial migration
    Leukocyte transendothelial migration
    5Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ESAM
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ESAM
        Transendothelial Migration of Leukocytes

    1 GeneGo (Thomson Reuters) Pathway for ESAM
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms


    2        Reactome Pathways for ESAM
        Hemostasis
    Cell surface interactions at the vascular wall


    2         Kegg Pathways  (Kegg details for ESAM):
        Cell adhesion molecules (CAMs)
    Leukocyte transendothelial migration


    ESAM for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ESAM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/23 Interacting proteins for ESAM (ENSP000002789274) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SELLENSP000002361474STRING: ENSP00000236147
    SELPENSP000002636864STRING: ENSP00000263686
    SELPLGENSP000003736144STRING: ENSP00000373614
    CLDN1ENSP000002955224STRING: ENSP00000295522
    CLDN10ENSP000002993394STRING: ENSP00000299339
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007156homophilic cell adhesion IEA--
    GO:0007596blood coagulation TAS--
    GO:0016337cell-cell adhesion ----
    GO:0050900leukocyte migration TAS--

    ESAM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ESAM

    Search CenterWatch for drugs/clinical trials and news about ESAM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ESAM gene: 
    NM_138961.2  

    Unigene Cluster for ESAM:

    Endothelial cell adhesion molecule
    Hs.173840  [show with all ESTs]
    Unigene Representative Sequence: AK091023
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000444566 ENST00000485116(uc001qau.4) ENST00000417453(uc001qaw.4 uc001qax.4)
    ENST00000278927(uc001qav.4) ENST00000464067 ENST00000435477 ENST00000442070(uc010sao.2)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ESAM
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate ESAM:
    hsa-miR-877* hsa-miR-185 hsa-miR-4306 hsa-miR-454*
    SwitchGear 3'UTR luciferase reporter plasmidESAM 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ESAM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ESAM
    Clone
    Products:
         
    OriGene clones in human, mouse for ESAM (see all 8)
    OriGene ORF clones in mouse, rat for ESAM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ESAM (NM_138961)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESAM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESAM
    Sirion Biotech Customized lentivirus for stable overexpression of ESAM 
                         Customized lentivirus expression plasmids for stable overexpression of ESAM 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ESAM
    OriGene qSTAR qPCR primer pairs in human, mouse for ESAM
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ESAM
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ESAM
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ESAM

    Additional mRNA sequence: 

    AF277292.1 AF361746.1 AK075396.1 AK091023.1 AK092429.1 AK301160.1 AK314710.1 AY189281.1 
    AY358382.1 BC016868.1 BC127834.1 

    16 DOTS entries:

    DT.443322  DT.95358392  DT.100823341  DT.100823336  DT.96085327  DT.100026830  DT.100649113  DT.100823326 
    DT.120749156  DT.100656285  DT.120749121  DT.95358380  DT.100823338  DT.120749141  DT.75103941  DT.100712816 

    24/318 AceView cDNA sequences (see all 318):

    AI949837 CR592972 H12629 BQ067223 CR615231 CR607273 BM924736 BM769154 
    AA683601 BQ019109 BI712457 AI187105 BM766909 BQ690182 R78261 AA618505 
    BE043092 CR615986 CR623962 BX385824 BQ892424 AA664044 BM786346 CR592657 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ESAM (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for ESAM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ESAM expression in normal human tissues (normalized intensities)      ESAM embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATAAAAAA
    ESAM Expression
    About this image


    ESAM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 25 entries
             PureStem endothelial progenitor 30-SM2-1
             Human Pulmonary Microvascular Endothelial Cells (HPMEC)   
             branchial arch artery   
     
     Heart (Cardiovascular System)    fully expand to see all 6 entries
             Coronary Vessels
             Human Cardiac Myocytes-adult (HCM-a)   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             PureStem endothelial Progenitor 30-SM2-3
             cd31+ cells   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Human Umbilical Vein Endothelial Cells (HUVEC) (BioTime)   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Human Brain Microvascular Endothelial Cells (HBMEC)   

    See ESAM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ESAM

    SOURCE GeneReport for Unigene cluster: Hs.173840

    UniProtKB/Swiss-Prot: ESAM_HUMAN, Q96AP7
    Tissue specificity: Highly expressed in endothelial cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including ESAM: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for ESAM
    OriGene qSTAR qPCR primer pairs in human, mouse for ESAM
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ESAM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESAM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ESAM gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Esam1 , 5 endothelial cell-specific adhesion molecule1, 5 78.46(n)1
    73.08(a)1
      9 (20.77 cM)5
    695241  NM_027102.31  NP_081378.11 
     375280785 
    chicken
    (Gallus gallus)
    Aves ESAM1 endothelial cell adhesion molecule 55.62(n)
    50(a)
      419707  XM_417851.3  XP_417851.3 
    lizard
    (Anolis carolinensis)
    Reptilia ESAM6
    endothelial cell adhesion molecule
    36(a)
    1 ↔ 1
    GL343367.1(14652-73118)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5629341 endothelial cell-selective adhesion molecule-like 50.72(n)
    46.11(a)
      562934  XM_686299.4  XP_691391.4 


    ENSEMBL Gene Tree for ESAM (if available)
    TreeFam Gene Tree for ESAM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ESAM gene
    CLMP2  VSIG82  GPA332  VSIG12  CXADR2  VSIG22  C1orf2042  IGSF112  
    1 SIMAP similar gene for ESAM using alignment to 4 protein entries:     ESAM_HUMAN (see all proteins):
    IGSF11

    ESAM for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ESAM
    PGOHUM00000242925


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/232 SNPs in ESAM are shown (see all 232)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1155537301,2
    C,F--124624144(+) CTTGCC/TCCGGC 2 S G mis11Minor allele frequency- T:0.01WA 216
    rs2021140641,2
    C--124624147(+) GCCCCA/GGCGGT 2 R W mis10--------
    rs127920401,2,4
    C,F,H--124624150(+) CCGGCG/AGTGGT 2 /R /C mis1 ese328Minor allele frequency- A:0.07NS EA NA WA EU 9059
    rs1164787281,2
    C,F--124624235(+) CCAGGC/TCCTGG 2 G syn14Minor allele frequency- T:0.01WA NA 4998
    rs770482221,2
    C,F--124624245(+) GAAAAG/TGCGTC 1 -- int13Minor allele frequency- T:0.10WA 122
    rs2009917551,2
    C--124624251(+) GCGTCA/GTGTCA 1 -- int10--------
    rs2009247721,2
    C--124624554(+) CCAGCA/GTCACA 2 T M mis10--------
    rs2021788261,2
    C--124624555(+) CAGCGC/TCACAT 2 T A mis10--------
    rs1160760221,2
    C,F--124624616(+) GCCATG/AGAAGA 2 /S syn14Minor allele frequency- A:0.00NA EU 6183
    rs1154629451,2
    C,F--124624650(+) ACCCAC/TGGATG 2 H R mis15Minor allele frequency- T:0.01EU WA NA 5234

    HapMap Linkage Disequilibrium report for ESAM (124622026 - 124632223 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ESAM:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1321n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): ESAM
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614281    OMIM disorders: --

    5 diseases for ESAM:    About MalaCards
    bronchopulmonary dysplasia    endotheliitis    vascular disease    atherosclerosis
    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for ESAM:
    Vascular disease

    ESAM for disorders           About GeneDecksing

    Genetic Association Database (GAD): ESAM
    Human Genome Epidemiology (HuGE) Navigator: ESAM (1 document)

    Export disorders for ESAM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ESAM gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with ESAM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of an immunoglobulin family adhesion molecule selectively expressed by endothelial cells. (PubMed id 11279107)1, 2, 3 Hirata K....Quertermous T. (2001)
    2. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    7. 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. (PubMed id 11906820)1, 3 Sim D.L.C.... Chow V.T.K. (2002)
    8. A secreted protein microarray platform for extracellul ar protein interaction discovery. (PubMed id 21982860)1 Ramani S.R....Gonzalez L.C. (2012)
    9. Exome sequencing supports a de novo mutational paradi gm for schizophrenia. (PubMed id 21822266)1 Xu B....Karayiorgou M. (2011)
    10. Role of endothelial cell-selective adhesion molecule in hematogeneous metastasis. (PubMed id 20153339)1 Cangara H.M....Hayashi Y. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 90952 HGNC: 17474 AceView: ESAM Ensembl:ENSG00000149564 euGenes: HUgn90952
    ECgene: ESAM Kegg: 90952 H-InvDB: ESAM

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ESAM Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ESAM gene:
    Search GeneIP for patents involving ESAM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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