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    EMCN endomucin [ Homo sapiens (human) ]

    Gene ID: 51705, updated on 3-Apr-2024

    Summary

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    Official Symbol
    EMCNprovided by HGNC
    Official Full Name
    endomucinprovided by HGNC
    Primary source
    HGNC:HGNC:16041
    See related
    Ensembl:ENSG00000164035 MIM:608350; AllianceGenome:HGNC:16041
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EMCN2; MUC14
    Summary
    EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in kidney (RPKM 11.5), lung (RPKM 11.1) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q24
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (100395341..100518022, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (103710663..103833329, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (101316498..101439179, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene DDIT4L antisense RNA 1 Neighboring gene DNA damage inducible transcript 4 like Neighboring gene ReSE screen-validated silencer GRCh37_chr4:101170456-101170657 Neighboring gene small nucleolar RNA, H/ACA box 101A Neighboring gene uncharacterized LOC124900740 Neighboring gene uncharacterized LOC105377345 Neighboring gene long intergenic non-protein coding RNA 1216

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MUC14-Related ncRNA-mRNA Network in Breast Cancer. Wang S, et al. Genes (Basel), 2021 Oct 23. PMID 34828282, Free PMC Article
    2. Human adult HSCs can be discriminated from lineage-committed HPCs by the expression of endomucin. Reckzeh K, et al. Blood Adv, 2018 Jul 10. PMID 29986855, Free PMC Article
    3. Association of EMCN with susceptibility to rheumatoid arthritis in a Japanese population. Nishimoto K, et al. J Rheumatol, 2011 Feb. PMID 21159824
    4. Identification of tumour antigens by serological analysis of cDNA expression cloning. Li G, et al. Cancer Immunol Immunother, 2004 Mar. PMID 14722670
    5. Expression of endomucin, a novel endothelial sialomucin, in normal and diseased human skin. Kuhn A, et al. J Invest Dermatol, 2002 Dec. PMID 12485444

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MUC14-Related ncRNA-mRNA Network in Breast Cancer.
      Title: MUC14-Related ncRNA-mRNA Network in Breast Cancer.
    2. Elements of the Endomucin Extracellular Domain Essential for VEGF-Induced VEGFR2 Activity.
      Title: Elements of the Endomucin Extracellular Domain Essential for VEGF-Induced VEGFR2 Activity.
    3. ADAM10 and ADAM17 proteases mediate proinflammatory cytokine-induced and constitutive cleavage of endomucin from the endothelial surface.
      Title: ADAM10 and ADAM17 proteases mediate proinflammatory cytokine-induced and constitutive cleavage of endomucin from the endothelial surface.
    4. Human adult HSCs can be discriminated from lineage-committed HPCs by the expression of endomucin.
      Title: Human adult HSCs can be discriminated from lineage-committed HPCs by the expression of endomucin.
    5. In contrast, endomucin (EMCN) is present on the lymphatic sinus endothelium and not on lymphatic endothelium of the subcapsular sinus. Moreover, both murine and human MSR1 on lymphatic endothelium of the SS bind lymphocytes and in in vivo studies MSR1 regulates entrance of lymphocytes from the SS to the lymph node parenchyma
      Title: Gene-expression profiling of different arms of lymphatic vasculature identifies candidates for manipulation of cell traffic.
    6. These results indicate that endomucin prevents leukocyte contact with adhesion molecules in non-inflamed tissues and that downregulation of endomucin is critical to facilitate adhesion of leukocytes into inflamed tissues.
      Title: Endomucin prevents leukocyte-endothelial cell adhesion and has a critical role under resting and inflammatory conditions.
    7. Knockdown of endomucin markedly attenuated endothelial cell growth, migration and tube formation.
      Title: Epigenetically coordinated GATA2 binding is necessary for endothelium-specific endomucin expression.
    8. A significant association between EMCN and rheumatoid arthritis susceptibility was detected in our Japanese study population. The EMCN allele conferring rheumatoid arthritis susceptibility may also contribute to the pathogenesis of rheumatoid arthritis.
      Title: Association of EMCN with susceptibility to rheumatoid arthritis in a Japanese population.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    endomucin
    Names
    MUC-14
    endomucin-2
    gastric cancer antigen Ga34
    mucin-14

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001159694.2 → NP_001153166.1  endomucin isoform 2 precursor

      See identical proteins and their annotated locations for NP_001153166.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      AC097459, AK291831, AK304568, AL133118, BG506923
      Consensus CDS
      CCDS54782.1
      UniProtKB/TrEMBL
      Q53H40
      Related
      ENSP00000422432.1, ENST00000511970.5
      Conserved Domains (1) summary
      pfam07010
      Location:1 → 248
      Endomucin; Endomucin

    2. NM_016242.4 → NP_057326.2  endomucin isoform 1 precursor

      See identical proteins and their annotated locations for NP_057326.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC097459, AK291831, AK313504, AL133118
      Consensus CDS
      CCDS3655.1
      UniProtKB/Swiss-Prot
      A8K716, B4E347, Q8NEY5, Q8WWE7, Q9NRM8, Q9ULC0
      UniProtKB/TrEMBL
      Q4W5J1, Q53H40
      Related
      ENSP00000296420.4, ENST00000296420.9
      Conserved Domains (1) summary
      pfam07010
      Location:1 → 261
      Endomucin; Endomucin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      100395341..100518022 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532024.4 → XP_011530326.1  endomucin isoform X1

      See identical proteins and their annotated locations for XP_011530326.1

      UniProtKB/Swiss-Prot
      A8K716, B4E347, Q8NEY5, Q8WWE7, Q9NRM8, Q9ULC0
      UniProtKB/TrEMBL
      Q4W5J1, Q53H40
      Conserved Domains (1) summary
      pfam07010
      Location:1 → 261
      Endomucin; Endomucin

    2. XM_017008290.2 → XP_016863779.1  endomucin isoform X2

      UniProtKB/TrEMBL
      D6RHW5
      Related
      ENST00000502327.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      103710663..103833329 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350176.1 → XP_054206151.1  endomucin isoform X1

      UniProtKB/Swiss-Prot
      A8K716, B4E347, Q8NEY5, Q8WWE7, Q9NRM8, Q9ULC0
      UniProtKB/TrEMBL
      Q4W5J1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULC0.2 GenPept UniProtKB/Swiss-Prot:Q9ULC0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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