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

Gene ID: 4583, updated on 20-Sep-2020

Summary

Official Symbol
MUC2provided by HGNC
Official Full Name
mucin 2, oligomeric mucus/gel-formingprovided by HGNC
Primary source
HGNC:HGNC:7512
See related
Ensembl:ENSG00000198788 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
109.20200815 current GRCh38.p13 (GCF_000001405.39) 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 MUC5B antisense RNA 1

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
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
GeneReviews: Not available

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 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
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
    Related
    ENST00000361558.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_015148966.1 Reference GRCh38.p13 PATCHES

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

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_187681.1 Reference GRCh38.p13 ALT_REF_LOCI_3

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