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EMCN endomucin [ Homo sapiens (human) ]

Gene ID: 51705, updated on 11-Jun-2021

Summary

Official Symbol
EMCNprovided by HGNC
Official Full Name
endomucinprovided by HGNC
Primary source
HGNC:HGNC:16041
See related
Ensembl:ENSG00000164035 MIM:608350
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
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Genomic context

See EMCN in Genome Data Viewer
Location:
4q24
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (100395341..100518052, complement)
105.20201022 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 small nucleolar RNA, H/ACA box 101A Neighboring gene uncharacterized LOC105377345 Neighboring gene long intergenic non-protein coding RNA 1216

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001159694.2NP_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/Swiss-Prot
    Q9ULC0
    Related
    ENSP00000422432.1, ENST00000511970.5
    Conserved Domains (1) summary
    pfam07010
    Location:1248
    Endomucin; Endomucin
  2. NM_016242.4NP_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
    Q9ULC0
    UniProtKB/TrEMBL
    Q4W5J1
    Related
    ENSP00000296420.4, ENST00000296420.9
    Conserved Domains (1) summary
    pfam07010
    Location:1261
    Endomucin; Endomucin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    100395341..100518052 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532024.3XP_011530326.1  endomucin isoform X1

    See identical proteins and their annotated locations for XP_011530326.1

    UniProtKB/Swiss-Prot
    Q9ULC0
    UniProtKB/TrEMBL
    Q4W5J1
    Conserved Domains (1) summary
    pfam07010
    Location:1261
    Endomucin; Endomucin
  2. XM_017008290.1XP_016863779.1  endomucin isoform X2

    Related
    ENSP00000427608.1, ENST00000502569.1
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