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Aliases for EMCN Gene

Aliases for EMCN Gene

  • Endomucin 2 3 3 5
  • Gastric Cancer Antigen Ga34 3 4
  • Endomucin-2 3 4
  • Mucin-14 3 4
  • MUC-14 3 4
  • EMCN2 3 4
  • MUC14 3 4

External Ids for EMCN Gene

Previous GeneCards Identifiers for EMCN Gene

  • GC04M101629
  • GC04M101777
  • GC04M101676
  • GC04M101316
  • GC04M097054

Summaries for EMCN Gene

Entrez Gene Summary for EMCN Gene

  • 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]

GeneCards Summary for EMCN Gene

EMCN (Endomucin) is a Protein Coding gene.

UniProtKB/Swiss-Prot for EMCN Gene

  • Endothelial sialomucin, also called endomucin or mucin-like sialoglycoprotein, which interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix.

Gene Wiki entry for EMCN Gene

Additional gene information for EMCN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMCN Gene

Genomics for EMCN Gene

GeneHancer (GH) Regulatory Elements for EMCN Gene

Promoters and enhancers for EMCN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J100518 Promoter 0.5 EPDnew 650.1 +362.1 362084 0.1 EMCN LOC105377345 GC04M100396
GH04J100408 Enhancer 0.2 FANTOM5 2.5 +471.5 471518 0.2 EMCN GC04M100396 LOC105377345
GH04J100893 Enhancer 0.6 Ensembl ENCODE 0.4 -15.1 -15059 2.6 ATF7 RUNX3 YY1 EMCN MIR8066
GH04J100882 Enhancer 0.3 FANTOM5 0.7 -2.5 -2491 0.2 IKZF2 EMCN MIR8066
GH04J100869 Enhancer 0.5 ENCODE 0.4 +11.7 11657 0.5 ZNF217 CTBP1 FOXA2 FOXA3 DPF2 MNT FOXA1 EMCN LINC01218
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMCN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EMCN gene promoter:
  • Nkx2-5
  • CUTL1
  • Brachyury
  • MEF-2A
  • MEF-2
  • aMEF-2
  • C/EBPbeta
  • TBP
  • SRY
  • Ik-3

Genomic Locations for EMCN Gene

Genomic Locations for EMCN Gene
chr4:100,395,341-100,880,126
(GRCh38/hg38)
Size:
484,786 bases
Orientation:
Minus strand
chr4:101,316,498-101,801,283
(GRCh37/hg19)
Size:
484,786 bases
Orientation:
Minus strand

Genomic View for EMCN Gene

Genes around EMCN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMCN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMCN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMCN Gene

Proteins for EMCN Gene

  • Protein details for EMCN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULC0-MUCEN_HUMAN
    Recommended name:
    Endomucin
    Protein Accession:
    Q9ULC0
    Secondary Accessions:
    • A8K716
    • B4E347
    • Q8NEY5
    • Q8WWE7
    • Q9NRM8

    Protein attributes for EMCN Gene

    Size:
    261 amino acids
    Molecular mass:
    27452 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EMCN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMCN Gene

Post-translational modifications for EMCN Gene

  • Highly O-glycosylated. Sialic acid-rich glycoprotein.
  • Glycosylation at Asn178, isoforms=3164, Asn104, Asn98, Asn28, and Asn19
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EMCN Gene

Domains & Families for EMCN Gene

Gene Families for EMCN Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for EMCN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EMCN Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EMCN: view

No data available for UniProtKB/Swiss-Prot for EMCN Gene

Function for EMCN Gene

Molecular function for EMCN Gene

UniProtKB/Swiss-Prot Function:
Endothelial sialomucin, also called endomucin or mucin-like sialoglycoprotein, which interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix.

Phenotypes From GWAS Catalog for EMCN Gene

Gene Ontology (GO) - Molecular Function for EMCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030246 carbohydrate binding IDA --
genes like me logo Genes that share ontologies with EMCN: view

Phenotypes for EMCN Gene

genes like me logo Genes that share phenotypes with EMCN: view

Animal Model Products

  • Taconic Biosciences Mouse Models for EMCN

CRISPR Products

miRNA for EMCN Gene

miRTarBase miRNAs that target EMCN

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMCN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EMCN Gene

Localization for EMCN Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMCN Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein. Membrane; Single-pass type I membrane protein. Note=Consistently localized to the plasma membrane and less abundantly to Golgi-like perinuclear stacks.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMCN gene
Compartment Confidence
plasma membrane 5
extracellular 4
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for EMCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0009897 external side of plasma membrane IC --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EMCN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EMCN Gene

Pathways & Interactions for EMCN Gene

No Data Available

Interacting Proteins for EMCN Gene

Gene Ontology (GO) - Biological Process for EMCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030155 regulation of cell adhesion IMP --
GO:0098609 cell-cell adhesion IDA --
genes like me logo Genes that share ontologies with EMCN: view

No data available for Pathways by source and SIGNOR curated interactions for EMCN Gene

Drugs & Compounds for EMCN Gene

No Compound Related Data Available

Transcripts for EMCN Gene

Unigene Clusters for EMCN Gene

Endomucin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMCN

Alternative Splicing Database (ASD) splice patterns (SP) for EMCN Gene

No ASD Table

Relevant External Links for EMCN Gene

GeneLoc Exon Structure for
EMCN
ECgene alternative splicing isoforms for
EMCN

Expression for EMCN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EMCN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EMCN Gene

This gene is overexpressed in Serum (40.2) and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EMCN Gene



NURSA nuclear receptor signaling pathways regulating expression of EMCN Gene:

EMCN

SOURCE GeneReport for Unigene cluster for EMCN Gene:

Hs.152913

mRNA Expression by UniProt/SwissProt for EMCN Gene:

Q9ULC0-MUCEN_HUMAN
Tissue specificity: Expressed in heart, kidney and lung.

Evidence on tissue expression from TISSUES for EMCN Gene

  • Heart(4.5)
  • Lung(4.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with EMCN: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMCN Gene

Orthologs for EMCN Gene

This gene was present in the common ancestor of chordates.

Orthologs for EMCN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMCN 34 33
  • 96.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EMCN 34 33
  • 81.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EMCN 34 33
  • 72.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Emcn 16 34 33
  • 68.48 (n)
rat
(Rattus norvegicus)
Mammalia Emcn 33
  • 66.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EMCN 34
  • 35 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EMCN 34
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMCN 34
  • 23 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMCN 34
  • 24 (a)
OneToOne
Species where no ortholog for EMCN was found in the sources mined by GeneCards:
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EMCN Gene

ENSEMBL:
Gene Tree for EMCN (if available)
TreeFam:
Gene Tree for EMCN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EMCN: view image

Paralogs for EMCN Gene

No data available for Paralogs for EMCN Gene

Variants for EMCN Gene

Sequence variations from dbSNP and Humsavar for EMCN Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000003635 -- 100,456,596(-) T/A/C intron_variant
rs1000017266 -- 100,494,247(-) G/A intron_variant
rs1000052444 -- 100,413,140(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000101714 -- 100,510,050(-) G/T intron_variant
rs1000102073 -- 100,418,982(-) G/A genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv1322255 CNV deletion 17803354
esv2422310 CNV deletion 17116639
esv2434052 CNV deletion 19546169
esv2670161 CNV deletion 23128226
esv2728039 CNV deletion 23290073
esv2728041 CNV deletion 23290073
esv3055269 CNV deletion 24192839
esv3564335 CNV deletion 23714750
nsv1005010 CNV loss 25217958
nsv1073360 CNV deletion 25765185
nsv1139292 CNV deletion 24896259
nsv521801 CNV loss 19592680
nsv956397 CNV deletion 24416366
nsv997418 CNV loss 25217958

Variation tolerance for EMCN Gene

Residual Variation Intolerance Score: 64.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.87; 89.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMCN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMCN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMCN Gene

Disorders for EMCN Gene

Additional Disease Information for EMCN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for EMCN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EMCN Gene

Publications for EMCN Gene

  1. Identification of human endomucin-1 and -2 as membrane-bound O-sialoglycoproteins with anti-adhesive activity. (PMID: 11418125) Kinoshita M … Noda M (FEBS letters 2001) 2 3 4 22 58
  2. Expression of endomucin, a novel endothelial sialomucin, in normal and diseased human skin. (PMID: 12485444) Kuhn A … Vestweber D (The Journal of investigative dermatology 2002) 3 4 22 58
  3. Human endomucin is an endothelial marker. (PMID: 11594763) Liu C … Nguyen M (Biochemical and biophysical research communications 2001) 2 3 22 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Identification of tumour antigens by serological analysis of cDNA expression cloning. (PMID: 14722670) Li G … Rees RC (Cancer immunology, immunotherapy : CII 2004) 3 4 58

Products for EMCN Gene

Sources for EMCN Gene

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