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ESAM Gene

protein-coding   GIFtS: 63
GCID: GC11M124622

Endothelial Cell Adhesion Molecule

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ESAM Gene:
ESAM (endothelial cell adhesion molecule) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_033899.9  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for ESAM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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: 

  • Glycosylation2 at Asn108, Asn169, Asn213, Asn236
  • Modification sites at PhosphoSitePlus

  • See ESAM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_620411.2  
    ENSEMBL proteins: 
     ENSP00000406689   ENSP00000389235   ENSP00000278927   ENSP00000415893   ENSP00000410351  
    Reactome Protein details: Q96AP7

    ESAM Human Recombinant Protein Products:

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    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

     
    Search eBioscience for Proteins for ESAM 

     
    antibodies-online proteins for ESAM (23 products) 

     
    antibodies-online peptides for ESAM

    ESAM Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for ESAM
    antibodies-online antibodies for ESAM (60 products) 

    ESAM Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ESAM
    Cloud-Clone Corp. CLIAs for ESAM
    Search eBioscience for ELISAs for ESAM 
    antibodies-online kits for ESAM (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with ESAM           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with ESAM           About GenesLikeMe


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

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

    Find genes that share phenotypes with ESAM           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Esamtm1Dvst for ESAM

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ESAM
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target ESAM:
    hsa-mir-335-5p (MIRT016818)

    Block miRNA regulation of human, mouse, rat ESAM using miScript Target Protectors
    4 qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for ESAM
    Predesigned siRNA for gene silencing in human, mouse, rat ESAM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ESAM

    Clone
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    OriGene clones in human, mouse for ESAM (see all 7)
    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

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ESAM
    Browse ESI BIO Cell Lines and PureStem Progenitors for ESAM 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESAM


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ESAM_HUMAN, Q96AP7: Cell junction, adherens junction (By similarity). Cell junction, tight junction (By
    similarity). Cell membrane; Single-pass type I membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    extracellular2
    nucleus2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with ESAM           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ESAM About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Integrin Pathway
    Transendothelial Migration of Leukocytes0.38
    3Leukocyte transendothelial migration
    Leukocyte transendothelial migration
    4Cell surface interactions at the vascular wall
    Cell surface interactions at the vascular wall
    5Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)


    Find genes that share SuperPaths with ESAM           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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


    1 Reactome Pathway for ESAM
        Cell surface interactions at the vascular wall


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ESAM: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ESAM

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

    Selected 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:    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--

    Find genes that share ontologies with ESAM           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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:
         
    Block miRNA regulation of human, mouse, rat ESAM using miScript Target Protectors
    4 qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for ESAM
    Predesigned siRNA for gene silencing in human, mouse, rat ESAM
    Clone
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    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
    Primer
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    OriGene qPCR primer pairs and template standards for ESAM
    OriGene qSTAR qPCR primer pairs in human, mouse for ESAM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ESAM
      QuantiTect SYBR Green Assays in human, mouse, rat ESAM
      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 

    Selected AceView cDNA sequences (see all 318):

    BU162884 BQ688576 AK075396 AI521359 BQ008791 BQ690182 BM924736 BM745488 
    BM694763 BF115565 R78261 CR603044 BC016868 BM786346 AK091023 CD672319 
    BF196820 BF528807 BM052896 BQ882741 CR615231 CR618946 CR615986 BQ067223 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ESAM expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Coronary Vessels
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Eye (Sensory Organs)
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Neurons
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    ESAM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ESAM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.173840

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ESAM: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ESAM
    OriGene qSTAR qPCR primer pairs in human, mouse for ESAM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ESAM
    QuantiTect SYBR Green Assays in human, mouse, rat ESAM
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ESAM gene from Selected species (see all 11)    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 78.12(n)1
    72.82(a)1
      9 (20.77 cM)5
    695241  NM_027102.31  NP_081378.11 
     375280785 
    chicken
    (Gallus gallus)
    Aves ESAM1 endothelial cell adhesion molecule 55.49(n)
    49.45(a)
      419707  XM_417851.4  XP_417851.4 
    lizard
    (Anolis carolinensis)
    Reptilia ESAM6
    endothelial cell adhesion molecule
    36(a)
    1 ↔ 1
    GL343367.1(14652-73118)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia esam1 endothelial cell adhesion molecule 52.12(n)
    48.44(a)
      100216067  NM_001142053.1  NP_001135525.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5629341 endothelial cell-selective adhesion molecule-like 50.35(n)
    45.29(a)
      562934  XM_686299.5  XP_691391.5 


    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)
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    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

    Find genes that share paralogs with ESAM           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ESAM (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ESAM
    DNA2.0 Custom Variant and Variant Library Synthesis for ESAM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 614281    OMIM disorders: --

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

    Find genes that share disorders with ESAM           About GenesLikeMe

    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)
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    PubMed articles for ESAM gene, integrated from 10 sources (see all 17):
    (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. (J. Biol. Chem. 2001)
    2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 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. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 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. (Genome Res. 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. (Int. J. Biochem. Cell Biol. 2002)
    8. 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. (PubMed id 24177327)1 Park M....Shlipak M.G. (Arterioscler. Thromb. Vasc. Biol. 2014)
    9. A secreted protein microarray platform for extracellular protein interaction discovery. (PubMed id 21982860)1 Ramani S.R....Gonzalez L.C. (Anal. Biochem. 2012)
    10. Exome sequencing supports a de novo mutational paradigm for schizophrenia. (PubMed id 21822266)1 Xu B....Karayiorgou M. (Nat. Genet. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 90952 HGNC: 17474 AceView: ESAM Ensembl:ENSG00000149564 euGenes: HUgn90952
    ECgene: ESAM Kegg: 90952 H-InvDB: ESAM

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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