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Aliases for MUC2 Gene

Aliases for MUC2 Gene

  • Mucin 2, Oligomeric Mucus/Gel-Forming 2 3 5
  • Mucin 2, Intestinal/Tracheal 2 3
  • MUC-2 3 4
  • SMUC 3 4
  • Intestinal Mucin-2 4
  • Mucin-2 3
  • 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 Ulcerative Colitis and Pseudomyxoma Peritonei. Among its related pathways are Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) and CLEC7A (Dectin-1) signaling.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for MUC2 Gene

Genomics for MUC2 Gene

Regulatory Elements for MUC2 Gene

Enhancers for MUC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G001051 1.1 ENCODE dbSUPER 12.8 -23.6 -23620 0.3 ELF3 RB1 AGO1 KLF17 ARID4B SIN3A ZNF2 ZNF48 RAD21 ZNF335 MUC2 AP2A2 PIDD1 RPLP2 SLC25A22 CEND1 GC11P001047 PIR44225
GH11G001052 0.9 ENCODE dbSUPER 12.7 -20.4 -20429 3.1 CTCF STAT1 MAZ KLF1 ZKSCAN8 PCBP1 TCF7L2 EZH2 MUC2 LOC101927503 AP2A2 GC11P001047 PIR44225
GH11G001072 1.7 FANTOM5 Ensembl ENCODE dbSUPER 0.7 -1.2 -1150 3.3 ELF3 BMI1 RARA GLIS2 EGR1 FOS CREM EGR2 CEBPB ZNF398 PIDD1 CRACR2B DRD4 MUC2 GC11M001067
GH11G001077 0.4 dbSUPER 0.7 +1.6 1622 0.0 HNRNPL MUC2 GC11M001099 PIR59417
GH11G001076 0.4 dbSUPER 0.7 +1.6 1605 0.0 HNRNPL MUC2 GC11M001099 PIR59417
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MUC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MUC2 Gene

Chromosome:
11
Start:
1,074,875 bp from pter
End:
1,110,511 bp from pter
Size:
35,637 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.

neXtProt entry for MUC2 Gene

Post-translational modifications for MUC2 Gene

  • 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.
  • 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.
  • O-glycosylated.
  • Glycosylation at posLast=163163, Asn423, Asn670, posLast=770770, Asn894, Asn1139, posLast=11541154, Asn1215, posLast=12301230, posLast=12461246, posLast=17871787, Asn1820, Asn4339, posLast=43514351, Asn4362, Asn4373, posLast=44224422, Asn4438, Asn4502, Asn4616, Asn4627, posLast=47524752, posLast=47874787, posLast=48814881, posLast=48884888, Asn4955, posLast=49704970, Asn5019, posLast=50385038, and posLast=50695069
  • Modification sites at PhosphoSitePlus

Other Protein References for MUC2 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for MUC2 Gene

Domains & Families for MUC2 Gene

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

Function for MUC2 Gene

Molecular function for MUC2 Gene

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
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.

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:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , 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}.

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 MUC2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 5
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
lysosome 1

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:0070702 inner mucus layer ISS --
GO:0070703 outer mucus layer ISS --
genes like me logo Genes that share ontologies with MUC2: view

Pathways & Interactions for MUC2 Gene

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

Interacting Proteins for MUC2 Gene

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

No data available for SIGNOR curated interactions for MUC2 Gene

Drugs & Compounds for MUC2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pranlukast Approved Pharma Antagonist, Target, other/unknown 3

(17) 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 :
(6) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MUC2 Gene

Mucin 2, oligomeric mucus/gel-forming:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MUC2 Gene

GeneLoc Exon Structure for
MUC2
ECgene alternative splicing isoforms for
MUC2

Expression for MUC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of MUC2 Gene:

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.

Evidence on tissue expression from TISSUES for MUC2 Gene

  • Intestine(5)
  • Stomach(3.3)
  • Lung(3)
  • Nervous system(3)
  • Liver(2.7)
  • Pancreas(2.1)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with MUC2: view

Primer Products

No data available for 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 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC102154704 34
  • 83.47 (n)
MUC2 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Muc2 34 16
  • 78.7 (n)
oppossum
(Monodelphis domestica)
Mammalia MUC2 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUC2 35
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MUC2 35
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii MUC2 (1 of 2) 35
  • 46 (a)
OneToMany
MUC2 (2 of 2) 35
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Hml 36 35
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
ManyToMany
Species where no ortholog for MUC2 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)
  • 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 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:

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

No data available for Paralogs for MUC2 Gene

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 from dbSNP and Humsavar for MUC2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1057518642 Benign 1,094,922(+) AACCA(C/T)CACTC reference, missense
rs1000022774 -- 1,103,517(+) TGTGC(C/T)CCCAT intron-variant
rs1000072343 -- 1,099,952(+) TCCAC(A/T)CCCAC reference, synonymous-codon
rs1000150810 -- 1,106,218(+) CCACC(A/G)TCCAT intron-variant
rs1000183864 -- 1,105,718(+) TCCCT(A/G)TTGCA intron-variant

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)

Relevant External Links for MUC2 Gene

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

Disorders for MUC2 Gene

MalaCards: The human disease database

(74) MalaCards diseases for MUC2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ulcerative colitis
  • left-sided ulcerative colitis
pseudomyxoma peritonei
  • mucinous ascites
signet ring cell adenocarcinoma
  • signet ring carcinoma nos
biliary tract neoplasm
  • extrahepatic bile duct neoplasm
mucinous adenocarcinoma
  • mucin-producing adenocarcinoma
- elite association - COSMIC cancer census association via MalaCards
Search MUC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MUC2

Genetic Association Database (GAD)
MUC2
Human Genome Epidemiology (HuGE) Navigator
MUC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MUC2
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. 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. (Biochem. Biophys. Res. Commun. 1992) 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PMID: 20503287) Schuurhof A. … Janssen R. (Pediatr. Pulmonol. 2010) 3 46 64
  4. MUC2 gene promoter methylation in mucinous and non-mucinous colorectal cancer tissues. (PMID: 20198318) Okudaira K. … Deng G. (Int. J. Oncol. 2010) 3 22 64
  5. Bile acid regulates MUC2 transcription in colon cancer cells via positive EGFR/PKC/Ras/ERK/CREB, PI3K/Akt/IkappaB/NF-kappaB and p38/MSK1/CREB pathways and negative JNK/c-Jun/AP-1 pathway. (PMID: 20198339) Lee H.Y. … Kim Y.S. (Int. J. Oncol. 2010) 3 22 64

Products for MUC2 Gene

Sources for MUC2 Gene

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