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. [provided by RefSeq, Dec 2016] See more...

Aliases for MUC6 Gene

Aliases for MUC6 Gene

  • Mucin 6, Oligomeric Mucus/Gel-Forming 2 3 5
  • Gastric Mucin-6 3 4
  • Mucin-6 3 4
  • MUC-6 3 4
  • Mucin 6, Gastric 2
  • MUC6 5

External Ids for MUC6 Gene

Previous GeneCards Identifiers for MUC6 Gene

  • GC11U990090
  • GC11P000176
  • GC11M001008
  • GC11M000974
  • GC11M000828

Summaries for MUC6 Gene

Entrez Gene Summary for MUC6 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. [provided by RefSeq, Dec 2016]

GeneCards Summary for MUC6 Gene

MUC6 (Mucin 6, Oligomeric Mucus/Gel-Forming) is a Protein Coding gene. Diseases associated with MUC6 include Pancreatic Ductal Carcinoma and Tumor Of Exocrine Pancreas. Among its related pathways are Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is MUC5B.

UniProtKB/Swiss-Prot Summary for MUC6 Gene

  • May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumor markers in a variety of cancers. May play a role in epithelial organogenesis.

Gene Wiki entry for MUC6 Gene

Additional gene information for MUC6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MUC6 Gene

Genomics for MUC6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MUC6 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
GH11J001039 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 35.7 -4.3 -4322 3.5 HNRNPL ZIC2 ZSCAN4 MNT CEBPB MAX MAZ MYNN TCF7L2 CTCF MUC6 AP2A2 CD151 KRTAP5-AS1 lnc-AP2A2-2 piR-50443-056 MUC2
GH11J001043 Enhancer 0.5 FANTOM5 44.6 -7.0 -7028 0.2 MNT MGA MAX RAD51 L3MBTL2 piR-50443-056 MUC6 AP2A2 lnc-AP2A2-2 MUC2
GH11J001050 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 -14.5 -14483 1.2 HNRNPL GATAD2A CTCF ZNF692 LARP7 ZNF143 REST RAD21 IRF2 ZNF501 LINC02688 MUC2 AP2A2 PIDD1 RPLP2 SLC25A22 CEND1 ENSG00000255142 LMNTD2 piR-50226
GH11J001047 Promoter/Enhancer 0.9 EPDnew Ensembl dbSUPER 0.4 -12.3 -12283 2.8 CTCF CREB1 BHLHE40 RAD21 LINC02688 AP2A2 PIDD1 RPLP2 CEND1 SLC25A22 CD151 piR-50443-056 MUC6 lnc-AP2A2-2
GH11J001060 Enhancer 1 Ensembl ENCODE dbSUPER 0.4 -24.4 -24358 1.8 CREB1 MGA SP1 SMARCC1 BRCA1 CTBP1 CEBPB CHD2 JUN RCOR1 piR-50226 PHRF1 TMEM80 RIC8A SNORA52 BET1L ENSG00000255237 PIDD1 PSMD13 MUC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUC6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUC6

Top Transcription factor binding sites by QIAGEN in the MUC6 gene promoter:
  • E47
  • LCR-F1
  • NF-kappaB1
  • Olf-1
  • p53
  • Sp1
  • Tal-1beta

Genomic Locations for MUC6 Gene

Genomic Locations for MUC6 Gene
chr11:1,012,823-1,036,718
(GRCh38/hg38)
Size:
23,896 bases
Orientation:
Minus strand
chr11:1,012,821-1,036,706
(GRCh37/hg19)
Size:
23,886 bases
Orientation:
Minus strand

Genomic View for MUC6 Gene

Genes around MUC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC6 Gene

Proteins for MUC6 Gene

  • Protein details for MUC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6W4X9-MUC6_HUMAN
    Recommended name:
    Mucin-6
    Protein Accession:
    Q6W4X9
    Secondary Accessions:
    • O15329
    • Q14394
    • Q2TUQ5
    • Q4L207
    • Q8N8I1
    • Q8NAK1

    Protein attributes for MUC6 Gene

    Size:
    2439 amino acids
    Molecular mass:
    257051 Da
    Quaternary structure:
    • Multimer; disulfide-linked.
    SequenceCaution:
    • Sequence=AK092533; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAC04860.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for MUC6 Gene

Post-translational modifications for MUC6 Gene

  • O-glycosylated.
  • Glycosylation at Asn268, Asn486, Asn659, Asn902, Asn975, Asn1179, and Asn2366
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for MUC6 Gene

No data available for DME Specific Peptides for MUC6 Gene

Domains & Families for MUC6 Gene

Gene Families for MUC6 Gene

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

Protein Domains for MUC6 Gene

InterPro:
Blocks:
  • Trypsin inhibitor-like, cysteine-rich TIL region
ProtoNet:

Suggested Antigen Peptide Sequences for MUC6 Gene

GenScript: Design optimal peptide antigens:
  • Gastric mucin-6 (MUC6_HUMAN)
  • MUC6 (Q4L213_HUMAN)
  • Mucin (Q6W3D1_HUMAN)
genes like me logo Genes that share domains with MUC6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MUC6 Gene

Function for MUC6 Gene

Molecular function for MUC6 Gene

UniProtKB/Swiss-Prot Function:
May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumor markers in a variety of cancers. May play a role in epithelial organogenesis.
UniProtKB/Swiss-Prot Induction:
Up-regulated by NFKB1. Repressed by mithramycin A which is an inhibitor of binding of transcription factors.
GENATLAS Biochemistry:
mucin 6,gastric,belonging to the secreted mucins cluster,aberrantly expressed in colorectal neoplasia

Phenotypes From GWAS Catalog for MUC6 Gene

Gene Ontology (GO) - Molecular Function for MUC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent NAS 7680650
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with MUC6: view

Animal Model Products

CRISPR Products

miRNA for MUC6 Gene

miRTarBase miRNAs that target MUC6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUC6

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MUC6 Gene

Localization for MUC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC6 Gene

Secreted.

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 MUC6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 4
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for MUC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with MUC6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUC6 Gene

Pathways & Interactions for MUC6 Gene

genes like me logo Genes that share pathways with MUC6: view

Gene Ontology (GO) - Biological Process for MUC6 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 IEA,NAS 7680650
genes like me logo Genes that share ontologies with MUC6: view

No data available for SIGNOR curated interactions for MUC6 Gene

Drugs & Compounds for MUC6 Gene

(4) Drugs for MUC6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for MUC6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MUC6: view

Transcripts for MUC6 Gene

mRNA/cDNA for MUC6 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 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 MUC6

Alternative Splicing Database (ASD) splice patterns (SP) for MUC6 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b
SP1: -
SP2: -

Relevant External Links for MUC6 Gene

GeneLoc Exon Structure for
MUC6

Expression for MUC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MUC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUC6 Gene

This gene is overexpressed in Stomach (x32.7), Pancreas (x12.9), and Cervix - Endocervix (x4.1).

Protein differential expression in normal tissues from HIPED for MUC6 Gene

This gene is overexpressed in Pancreatic juice (56.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MUC6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MUC6

SOURCE GeneReport for Unigene cluster for MUC6 Gene:

Hs.528432

mRNA Expression by UniProt/SwissProt for MUC6 Gene:

Q6W4X9-MUC6_HUMAN
Tissue specificity: Expressed in the regenerative zone of gastric antrum, gastric body mucosa and gastric incisura mucosa. Expressed in the deeper mucous glands of gastric antrum. Overexpressed in Helicobacter pylori infected gastric epithelium. Highly expressed in duodenal Brunner's glands, gall bladder, seminal vesicle, pancreatic centroacinar cells and ducts, and periductal glands of the common bile duct.

Evidence on tissue expression from TISSUES for MUC6 Gene

  • Stomach(4.9)
  • Intestine(3.5)
  • Gall bladder(2.9)
  • Pancreas(2.8)
  • Lung(2.8)
  • Kidney(2.6)
  • Spleen(2.3)
  • Liver(2.3)
  • Muscle(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with MUC6: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC6 Gene

Orthologs for MUC6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUC6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MUC6 30
  • 94.65 (n)
Dog
(Canis familiaris)
Mammalia LOC100856444 30
  • 80.87 (n)
-- 31
  • 77 (a)
OneToMany
-- 31
  • 57 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Muc6 30 17 31
  • 75.09 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Muc6 30
  • 68.8 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MUC6 31
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MUC6 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MUC6 31
  • 38 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MUC6 31
  • 56 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
OneToOne
Species where no ortholog for MUC6 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for MUC6 Gene

ENSEMBL:
Gene Tree for MUC6 (if available)
TreeFam:
Gene Tree for MUC6 (if available)

Paralogs for MUC6 Gene

genes like me logo Genes that share paralogs with MUC6: view

Variants for MUC6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MUC6 Gene

MUC6_HUMAN-Q6W4X9
The number of repeats is highly polymorphic and varies among different alleles. These repeats are very similar but not identical.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUC6 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs111749447 Benign: not specified 1,018,167(-) ATCG/A INFRAME_DELETION
rs113508205 Not Provided: not provided 1,016,890(-) G/A MISSENSE_VARIANT
rs148581741 Uncertain Significance: Malignant tumor of prostate 1,018,419(-) G/A MISSENSE_VARIANT
rs587777897 Not Provided: not provided 1,018,224(-) T/A MISSENSE_VARIANT
rs10736904 - p.Pro1578Ser

Additional dbSNP identifiers (rs#s) for MUC6 Gene

Structural Variations from Database of Genomic Variants (DGV) for MUC6 Gene

Variant ID Type Subtype PubMed ID
dgv10n47 CNV gain 21111241
dgv1528n54 CNV gain 21841781
dgv175e214 CNV gain 21293372
dgv187n67 CNV gain 20364138
dgv544e59 CNV duplication 20981092
dgv567n106 CNV deletion 24896259
esv1474704 CNV insertion 17803354
esv23591 CNV loss 19812545
esv2669189 CNV deletion 23128226
esv2743878 CNV deletion 23290073
esv2743883 CNV deletion 23290073
esv2743884 CNV deletion 23290073
esv2759794 CNV loss 17122850
esv3386338 CNV duplication 20981092
esv3396769 CNV duplication 20981092
esv3444523 CNV duplication 20981092
esv3523 OTHER complex 18987735
esv3625094 CNV loss 21293372
esv3625095 CNV gain 21293372
esv3625096 CNV loss 21293372
esv3625097 CNV gain 21293372
esv3671 OTHER complex 18987735
esv7984 CNV loss 19470904
esv988598 CNV insertion 20482838
nsv1035180 CNV gain 25217958
nsv1069540 CNV deletion 25765185
nsv1069993 CNV deletion 25765185
nsv1127156 CNV deletion 24896259
nsv428244 CNV loss 18775914
nsv469923 CNV loss 18288195
nsv482155 CNV gain 20164927
nsv511474 CNV loss 21212237
nsv59 CNV insertion 15895083
nsv7637 CNV insertion 18451855
nsv820593 CNV duplication 20802225
nsv825684 CNV gain 20364138
nsv825688 CNV gain 20364138
nsv832045 CNV gain+loss 17160897
nsv951273 CNV deletion 24416366
nsv951274 CNV deletion 24416366
nsv957893 CNV deletion 24416366
nsv975870 CNV duplication 23825009

Variation tolerance for MUC6 Gene

Residual Variation Intolerance Score: 100% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.49; 97.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUC6 Gene

Human Gene Mutation Database (HGMD)
MUC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC6

SNP Genotyping and Copy Number Assay Products

Disorders for MUC6 Gene

MalaCards: The human disease database

(61) MalaCards diseases for MUC6 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pancreatic ductal carcinoma
  • malignant neoplasm of duct of wirsung
tumor of exocrine pancreas
  • malignant neoplasm of the exocrine pancreas
endocervical adenocarcinoma
  • endocervical carcinoma
cervical mucinous adenocarcinoma
pancreatic serous cystic neoplasm
  • pancreatic serous neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search MUC6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MUC6

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 MUC6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUC6 Gene

Publications for MUC6 Gene

  1. Upregulation of MUC6 mucin gene expression by NFkappaB and Sp factors. (PMID: 15979574) Sakai H … Yuasa Y (Biochemical and biophysical research communications 2005) 3 4 23
  2. The complete genomic organization of the human MUC6 and MUC2 mucin genes. (PMID: 15081123) Rousseau K … Toribara NW (Genomics 2004) 3 4 23
  3. Aberrant epithelial expression of trefoil family factor 2 and mucin 6 in Helicobacter pylori infected gastric antrum, incisura, and body and its association with antralisation. (PMID: 15280409) Xia HH … Wong BC (Journal of clinical pathology 2004) 3 4 23
  4. Gastric MUC5AC and MUC6 are large oligomeric mucins that differ in size, glycosylation and tissue distribution. (PMID: 11988092) Nordman H … Carlstedt I (The Biochemical journal 2002) 3 4 23
  5. Human mucin genes MUC2, MUC3, MUC4, MUC5AC, MUC5B, and MUC6 express stable and extremely large mRNAs and exhibit a variable length polymorphism. An improved method to analyze large mRNAs. (PMID: 9422745) Debailleul V … Porchet N (The Journal of biological chemistry 1998) 3 4 23

Products for MUC6 Gene

Sources for MUC6 Gene