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EMCN endomucin [ Homo sapiens (human) ]

Gene ID: 51705, updated on 27-Nov-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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See EMCN in Genome Data Viewer
Location:
4q24
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (100395341..100518022, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (103710663..103833329, complement)
RS_2024_09 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. Human endomucin is an endothelial marker. Liu C, et al. Biochem Biophys Res Commun, 2001 Oct 19. PMID 11594763
  2. MUC14-Related ncRNA-mRNA Network in Breast Cancer. Wang S, et al. Genes (Basel), 2021 Oct 23. PMID 34828282, Free PMC Article
  3. Human endomucin: distribution pattern, expression on high endothelial venules, and decoration with the MECA-79 epitope. Samulowitz U, et al. Am J Pathol, 2002 May. PMID 12000719, Free PMC Article
  4. Expression of endomucin, a novel endothelial sialomucin, in normal and diseased human skin. Kuhn A, et al. J Invest Dermatol, 2002 Dec. PMID 12485444
  5. Identification of tumour antigens by serological analysis of cDNA expression cloning. Li G, et al. Cancer Immunol Immunother, 2004 Mar. PMID 14722670, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Non-endothelial expression of endomucin in the mouse and human choroid.
    Title: Non-endothelial expression of endomucin in the mouse and human choroid.
  2. Endomucin selectively regulates vascular endothelial growth factor receptor-2 endocytosis through its interaction with AP2.
    Title: Endomucin selectively regulates vascular endothelial growth factor receptor-2 endocytosis through its interaction with AP2.
  3. MUC14-Related ncRNA-mRNA Network in Breast Cancer.
    Title: MUC14-Related ncRNA-mRNA Network in Breast Cancer.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Knockdown of endomucin markedly attenuated endothelial cell growth, migration and tube formation.
    Title: Epigenetically coordinated GATA2 binding is necessary for endothelium-specific endomucin expression.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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)

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

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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_2024_08

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

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