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 cen... See more...

Aliases for MUC2 Gene

Aliases for MUC2 Gene

  • Mucin 2, Oligomeric Mucus/Gel-Forming 2 3 5
  • Mucin 2, Intestinal/Tracheal 2 3
  • Mucin-2 3 4
  • MUC-2 3 4
  • SMUC 3 4
  • Intestinal Mucin-2 4
  • MUC2 5
  • MLP 3

External Ids for MUC2 Gene

Previous GeneCards Identifiers for MUC2 Gene

  • GC11U990088
  • GC11M000095
  • GC11P001072
  • GC11P001064
  • GC11P000897

Summaries for MUC2 Gene

Entrez Gene Summary for MUC2 Gene

  • 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]

GeneCards Summary for MUC2 Gene

MUC2 (Mucin 2, Oligomeric Mucus/Gel-Forming) is a Protein Coding gene. Diseases associated with MUC2 include Gastric Cancer and Signet Ring Cell Adenocarcinoma. Among its related pathways are Gastric cancer and Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS). An important paralog of this gene is MUC5AC.

UniProtKB/Swiss-Prot Summary for MUC2 Gene

  • Coats the epithelia of the intestines, airways, and other mucus membrane-containing organs. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. Major constituent of both the inner and outer mucus layers of the colon and may play a role in excluding bacteria from the inner mucus layer.

Gene Wiki entry for MUC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MUC2 Gene

Genomics for MUC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MUC2 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
GH11J001074 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 600.7 -0.7 -725 2.4 HNRNPL ZIC2 CEBPA CEBPB ZFX SP1 MAX MXI1 NR2F2 ZFHX2 LOC107987157 MUC2 PIDD1 CRACR2B DRD4 MUC6
GH11J001102 Promoter 0.3 EPDnew 600.3 +27.5 27542 0.1 NONHSAG007370.2 lnc-MUC6-1 MUC2 MUC5AC
GH11J001050 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.8 -23.7 -23674 1.2 HNRNPL GATAD2A CTCF ZNF692 LARP7 ZNF143 REST RAD21 IRF2 ZNF501 LINC02688 MUC2 AP2A2 PIDD1 RPLP2 SLC25A22 CEND1 ENSG00000255142 LMNTD2 piR-50226
GH11J001052 Enhancer 0.8 Ensembl ENCODE dbSUPER 12.7 -20.4 -20428 3.1 MAZ STAT1 RCOR1 TCF7L2 VEZF1 KLF1 ZKSCAN8 MUC2 LINC02688 AP2A2 piR-50226 MUC6
GH11J001073 Enhancer 0.8 ENCODE dbSUPER 0.7 -2.5 -2479 0.2 CREB1 ATF7 TEAD4 RFX1 ZIC2 PATZ1 SP1 EGR1 BMI1 ZFHX2 LOC107987157 MUC2 piR-50226 MUC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUC2

Top Transcription factor binding sites by QIAGEN in the MUC2 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • p53
  • Sp1

Genomic Locations for MUC2 Gene

Genomic Locations for MUC2 Gene
chr11:1,074,875-1,110,511
(GRCh38/hg38)
Size:
35,637 bases
Orientation:
Plus strand
chr11:1,074,875-1,104,419
(GRCh37/hg19)
Size:
29,545 bases
Orientation:
Plus strand

Genomic View for MUC2 Gene

Genes around MUC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC2 Gene

Proteins for MUC2 Gene

  • Protein details for MUC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02817-MUC2_HUMAN
    Recommended name:
    Mucin-2
    Protein Accession:
    Q02817
    Secondary Accessions:
    • Q14878

    Protein attributes for MUC2 Gene

    Size:
    5179 amino acids
    Molecular mass:
    540300 Da
    Quaternary structure:
    • Homotrimer; disulfide-linked. Dimerizes in the endoplasmic reticulum via its C-terminal region and polymerizes via its N-terminal region by disulfide-linked trimerization. Interacts with FCGBP. Interacts with AGR2; disulfide-linked.
    • (Microbial infection) Interacts in vitro with L.monocytogenes internalin proteins InlB, InlC and InlJ; for InlC binding is slightly better at pH 5.5, (the pH of the intestine) than at pH 7.4.

    Three dimensional structures from OCA and Proteopedia for MUC2 Gene

neXtProt entry for MUC2 Gene

Post-translational modifications for MUC2 Gene

  • O-glycosylated.
  • May undergo proteolytic cleavage in the outer mucus layer of the colon, contributing to the expanded volume and loose nature of this layer which allows for bacterial colonization in contrast to the inner mucus layer which is dense and devoid of bacteria.
  • At low pH of 6 and under, undergoes autocatalytic cleavage in vitro in the N-terminal region of the fourth VWD domain. It is likely that this also occurs in vivo and is triggered by the low pH of the late secretory pathway.
  • Glycosylation at Asn163, Asn423, Asn670, Asn770, Asn894, Asn1139, Asn1154, Asn1215, Asn1230, Asn1246, Asn1787, Asn1820, Asn4339, Asn4351, Asn4362, Asn4373, Asn4422, Asn4438, Asn4502, Asn4616, Asn4627, Asn4752, Asn4787, Asn4881, Asn4888, Asn4955, Asn4970, Asn5019, Asn5038, and Asn5069
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for MUC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MUC2 Gene

Domains & Families for MUC2 Gene

Gene Families for MUC2 Gene

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

Protein Domains for MUC2 Gene

InterPro:
Blocks:
  • Growth factor cystine knot superfamily signature
  • von Willebrand factor, type C
  • Von Willebrand factor, type D
  • Trypsin inhibitor-like, cysteine-rich TIL region
  • Cystine knot, C-terminal
  • Cystine knot domain
ProtoNet:

Suggested Antigen Peptide Sequences for MUC2 Gene

GenScript: Design optimal peptide antigens:
  • Intestinal mucin-2 (MUC2_HUMAN)
  • Intestinal mucin (O00243_HUMAN)
  • Intestinal mucin 2.1 (Q9HBC5_HUMAN)
  • Intestinal mucin 2 (Q9HBC6_HUMAN)
  • Intestinal mucin 2 (Q9HBC7_HUMAN)
genes like me logo Genes that share domains with MUC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MUC2 Gene

Function for MUC2 Gene

Molecular function for MUC2 Gene

UniProtKB/Swiss-Prot Function:
Coats the epithelia of the intestines, airways, and other mucus membrane-containing organs. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. Major constituent of both the inner and outer mucus layers of the colon and may play a role in excluding bacteria from the inner mucus layer.
GENATLAS Biochemistry:
mucin 2,intestinal,glycoprotein of membrane,belonging to the secreted mucins cluster,involved in epithelial cell differentiation,expressed in epithelial ovarian cancer,in normal urothelium and in bladder cancer

Phenotypes From GWAS Catalog for MUC2 Gene

Gene Ontology (GO) - Molecular Function for MUC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19359471
genes like me logo Genes that share ontologies with MUC2: view
genes like me logo Genes that share phenotypes with MUC2: view

Animal Models for MUC2 Gene

MGI Knock Outs for MUC2:
  • Muc2 Muc2<tm1Avel>

Animal Model Products

CRISPR Products

miRNA for MUC2 Gene

miRTarBase miRNAs that target MUC2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MUC2 Gene

Localization for MUC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC2 Gene

Secreted. Note=In the intestine, secreted into the inner and outer mucus layers. {ECO:0000250}.

Gene Ontology (GO) - Cellular Components for MUC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0062023 collagen-containing extracellular matrix HDA 25037231
GO:0070701 mucus layer IEA --
GO:0070702 inner mucus layer ISS --
genes like me logo Genes that share ontologies with MUC2: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for MUC2 Gene

Pathways & Interactions for MUC2 Gene

genes like me logo Genes that share pathways with MUC2: view

Pathways by source for MUC2 Gene

1 GeneGo (Thomson Reuters) pathway for MUC2 Gene
  • Mucin expression in CF via TLRs, EGFR signaling pathways
1 Qiagen pathway for MUC2 Gene
  • NTHi-Induced Signaling

Interacting Proteins for MUC2 Gene

SIGNOR curated interactions for MUC2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MUC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0016266 O-glycan processing TAS --
GO:0030277 maintenance of gastrointestinal epithelium IMP 17058067
genes like me logo Genes that share ontologies with MUC2: view

Drugs & Compounds for MUC2 Gene

(21) Drugs for MUC2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pranlukast Investigational Pharma Antagonist, Target, other/unknown 4

(16) Additional Compounds for MUC2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MUC2: view

Transcripts for MUC2 Gene

mRNA/cDNA for MUC2 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUC2

Alternative Splicing Database (ASD) splice patterns (SP) for MUC2 Gene

No ASD Table

Relevant External Links for MUC2 Gene

GeneLoc Exon Structure for
MUC2

Expression for MUC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MUC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUC2 Gene

This gene is overexpressed in Colon - Transverse (x31.2) and Small Intestine - Terminal Ileum (x19.0).

Protein differential expression in normal tissues from HIPED for MUC2 Gene

This gene is overexpressed in Colon (26.3), Rectum (22.8), and Fetal gut (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MUC2 Gene



Protein tissue co-expression partners for MUC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MUC2

SOURCE GeneReport for Unigene cluster for MUC2 Gene:

Hs.315

mRNA Expression by UniProt/SwissProt for MUC2 Gene:

Q02817-MUC2_HUMAN
Tissue specificity: Colon, small intestine, colonic tumors, bronchus, cervix and gall bladder.
genes like me logo Genes that share expression patterns with MUC2: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC2 Gene

Orthologs for MUC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MUC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MUC2 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC102154704 30
  • 83.47 (n)
MUC2 31
  • 83 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Muc2 30 17
  • 78.7 (n)
Oppossum
(Monodelphis domestica)
Mammalia MUC2 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MUC2 31
  • 60 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MUC2 31
  • 66 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii MUC2 (1 of 2) 31
  • 46 (a)
OneToMany
MUC2 (2 of 2) 31
  • 44 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Hml 31 32
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
ManyToMany
Species where no ortholog for MUC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for MUC2 Gene

ENSEMBL:
Gene Tree for MUC2 (if available)
TreeFam:
Gene Tree for MUC2 (if available)

Paralogs for MUC2 Gene

(6) SIMAP similar genes for MUC2 Gene using alignment to 8 proteins:

  • MUC2_HUMAN
  • E7EUV1_HUMAN
  • H0Y2U6_HUMAN
  • H0Y317_HUMAN
  • O00243_HUMAN
  • Q9HBC5_HUMAN
  • Q9HBC6_HUMAN
  • Q9HBC7_HUMAN
genes like me logo Genes that share paralogs with MUC2: view

Variants for MUC2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MUC2 Gene

MUC2_HUMAN-Q02817
The number of repeats is highly polymorphic and varies among different alleles.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUC2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1057518642 Benign: not specified 1,094,922(+) C/T MISSENSE_VARIANT
rs7126405 -. - p.Gln2653Leup.Gln2653Pro
rs7480563 -. - p.Thr2524Prop.Thr2524Ser
rs11245936 - p.Gly832Ser
rs11245947 - p.Ser1619Arg

Additional dbSNP identifiers (rs#s) for MUC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MUC2 Gene

Variant ID Type Subtype PubMed ID
dgv126e201 CNV deletion 23290073
dgv127e201 CNV deletion 23290073
dgv1529n54 CNV loss 21841781
dgv1530n54 CNV loss 21841781
dgv1531n54 CNV gain+loss 21841781
dgv1532n54 CNV gain+loss 21841781
dgv1533n54 CNV gain 21841781
dgv1534n54 CNV loss 21841781
dgv1535n54 CNV loss 21841781
dgv1536n54 CNV loss 21841781
dgv184e199 CNV deletion 23128226
dgv545e59 CNV duplication 20981092
esv1010440 CNV insertion 20482838
esv1217413 CNV deletion 17803354
esv1343845 CNV insertion 17803354
esv1678011 CNV insertion 17803354
esv22815 CNV gain+loss 19812545
esv2669189 CNV deletion 23128226
esv2743878 CNV deletion 23290073
esv2743888 CNV deletion 23290073
esv2743891 CNV deletion 23290073
esv2743893 CNV deletion 23290073
esv2759794 CNV loss 17122850
esv3259385 CNV deletion 24192839
esv3382653 CNV duplication 20981092
esv3547186 CNV deletion 23714750
esv3547187 CNV deletion 23714750
esv3625098 CNV gain 21293372
esv992502 CNV deletion 20482838
nsv1076373 CNV duplication 25765185
nsv1076770 CNV insertion 25765185
nsv1118488 CNV duplication 24896259
nsv1119418 CNV insertion 24896259
nsv1143529 CNV deletion 24896259
nsv39410 CNV deletion 16902084
nsv469923 CNV loss 18288195
nsv511471 CNV loss 21212237
nsv511482 CNV loss 21212237
nsv512200 CNV loss 21212237
nsv518205 CNV loss 19592680
nsv552891 CNV gain 21841781
nsv552892 CNV gain 21841781
nsv552893 CNV loss 21841781
nsv552896 CNV loss 21841781
nsv552897 CNV loss 21841781
nsv552898 CNV loss 21841781
nsv552899 CNV gain+loss 21841781
nsv552918 CNV loss 21841781
nsv552921 CNV loss 21841781
nsv552923 CNV loss 21841781
nsv552924 CNV loss 21841781
nsv552925 CNV loss 21841781
nsv552926 CNV loss 21841781
nsv60 CNV insertion 15895083
nsv7638 CNV insertion 18451855
nsv825690 CNV loss 20364138
nsv832045 CNV gain+loss 17160897
nsv951275 CNV deletion 24416366

Variation tolerance for MUC2 Gene

Gene Damage Index Score: 24.78; 99.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUC2 Gene

Human Gene Mutation Database (HGMD)
MUC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC2

SNP Genotyping and Copy Number Assay Products

Disorders for MUC2 Gene

MalaCards: The human disease database

(25) MalaCards diseases for MUC2 Gene - From: LncRNADisease, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gastric cancer
  • gastric cancer, somatic
signet ring cell adenocarcinoma
  • signet ring carcinoma
pseudomyxoma peritonei
  • mucinous ascites
pancreatic ductal carcinoma
  • malignant neoplasm of duct of wirsung
cap polyposis
  • cap inflammatory polyposis
- elite association - COSMIC cancer census association via MalaCards
Search MUC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MUC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MUC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUC2 Gene

Publications for MUC2 Gene

  1. Mucin gene polymorphisms in otitis media patients. (PMID: 19718741) Ubell ML … Kerschner JE (The Laryngoscope 2010) 3 23 41
  2. Molecular cloning of human intestinal mucin (MUC2) cDNA. Identification of the amino terminus and overall sequence similarity to prepro-von Willebrand factor. (PMID: 8300571) Gum JR … Kim YS (The Journal of biological chemistry 1994) 3 4 23
  3. Human intestinal mucin-like protein (MLP) is homologous with rat MLP in the C-terminal region, and is encoded by a gene on chromosome 11 p 15.5. (PMID: 1550588) Xu G … Forstner J (Biochemical and biophysical research communications 1992) 3 4 23
  4. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PMID: 20503287) Schuurhof A … Janssen R (Pediatric pulmonology 2010) 3 41
  5. MUC2 gene promoter methylation in mucinous and non-mucinous colorectal cancer tissues. (PMID: 20198318) Okudaira K … Deng G (International journal of oncology 2010) 3 23

Products for MUC2 Gene

Sources for MUC2 Gene