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MUC2 mucin 2, oligomeric mucus/gel-forming [ Homo sapiens (human) ]

Gene ID: 4583, updated on 12-Mar-2019

Summary

Official Symbol
MUC2provided by HGNC
Official Full Name
mucin 2, oligomeric mucus/gel-formingprovided by HGNC
Primary source
HGNC:HGNC:7512
See related
MIM:158370
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MLP; SMUC; MUC-2
Summary
This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]
Annotation information
Annotation category: partial on reference assembly
Expression
Biased expression in colon (RPKM 65.6), small intestine (RPKM 19.0) and 2 other tissues See more
Orthologs

Genomic context

See MUC2 in Genome Data Viewer
Location:
11p15.5
Exon count:
52
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (1074875..1110508)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1074875..1104417)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2688 Neighboring gene uncharacterized LOC107987157 Neighboring gene mucin 5AC, oligomeric mucus/gel-forming Neighboring gene mucin 5B, oligomeric mucus/gel-forming Neighboring gene microRNA 6744

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
NHGRI GWA Catalog

Pathways from BioSystems

  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
    C-type lectin receptors (CLRs), organism-specific biosystemPathogen recognition is central to the induction of T cell differentiation. Groups of pathogens share similar structures known as pathogen-associated molecular patterns (PAMPs), which are recognised ...
  • Dectin-2 family, organism-specific biosystem (from REACTOME)
    Dectin-2 family, organism-specific biosystemDendritic cell-associated C-type lectin-2 (Dectin-2) family of C-type lectin receptors (CLRs) includes Dectin-2 (CLEC6A), blood dendritic antigen 2 (BDCA2/CLEC4C), macrophage C-type lectin (MCL/CLEC4...
  • Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS), organism-specific biosystem (from REACTOME)
    Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS), organism-specific biosystemGlycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1; MIM:610555) mediates the transfer of Galactose (Gal) from UDP-galactose to single O-linked GalNAc residues (Tn antigens) to...
  • Defective GALNT12 causes colorectal cancer 1 (CRCS1), organism-specific biosystem (from REACTOME)
    Defective GALNT12 causes colorectal cancer 1 (CRCS1), organism-specific biosystemThe family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine on serine, threonine or possibly tyrosine residue...
  • Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC), organism-specific biosystem (from REACTOME)
    Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC), organism-specific biosystemThe family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine (GalNAc) on serine, threonine or possibly tyrosin...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
    O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Termination of O-glycan biosynthesis, organism-specific biosystem (from REACTOME)
    Termination of O-glycan biosynthesis, organism-specific biosystemO-glycan biosynthesis can be terminated (or modified) by the addition of sialic acid residues on Core 1 and 2 glycoproteins by sialyltransferases (Varki et al. 2009).
  • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
    Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
  • Vibrio cholerae infection, conserved biosystem (from KEGG)
    Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
maintenance of gastrointestinal epithelium IMP
Inferred from Mutant Phenotype
more info
PubMed 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
collagen-containing extracellular matrix HDA PubMed 
inner mucus layer ISS
Inferred from Sequence or Structural Similarity
more info
 
outer mucus layer ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
mucin-2
Names
mucin 2, intestinal/tracheal

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_051929.1 RefSeqGene

    Range
    5001..42531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002457.4NP_002448.4  mucin-2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC256300

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    1074875..1110508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_015148966.1 Reference GRCh38.p12 PATCHES

    Range
    62448..99978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_3

Genomic

  1. NT_187681.1 Reference GRCh38.p12 ALT_REF_LOCI_3

    Range
    149268..178809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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