Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008] See more...

Aliases for MUC13 Gene

Aliases for MUC13 Gene

  • Mucin 13, Cell Surface Associated 2 3 5
  • Down-Regulated In Colon Cancer 1 2 3 4
  • Mucin 13, Epithelial Transmembrane 2 3
  • Mucin-13 3 4
  • MUC-13 3 4
  • DRCC1 3 4
  • MUC13 5
  • RECC 4

External Ids for MUC13 Gene

Previous HGNC Symbols for MUC13 Gene

  • DRCC1

Previous GeneCards Identifiers for MUC13 Gene

  • GC03P186200
  • GC03M124651
  • GC03M125905
  • GC03M125946
  • GC03M125947
  • GC03M126106
  • GC03M121998
  • GC03M124624

Summaries for MUC13 Gene

Entrez Gene Summary for MUC13 Gene

  • Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]

GeneCards Summary for MUC13 Gene

MUC13 (Mucin 13, Cell Surface Associated) is a Protein Coding gene. Diseases associated with MUC13 include Tn Polyagglutination Syndrome and Colorectal Cancer 1. 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 protein homodimerization activity. An important paralog of this gene is MUC17.

UniProtKB/Swiss-Prot Summary for MUC13 Gene

  • Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.

Additional gene information for MUC13 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MUC13 Gene

Genomics for MUC13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MUC13 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
GH03J124925 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 612.7 +23.3 23346 10.4 CTCF PRDM10 REST RAD21 TCF12 IRF2 IKZF2 TRIM22 PKNOX1 SOX13 MUC13 ITGB5 ITGB5-AS1 RNU6-232P UMPS lnc-ITGB5-2 lnc-MUC13-1
GH03J124950 Enhancer 1 Ensembl ENCODE dbSUPER 600.7 +1.6 1561 3 CREB1 PRDM10 ZNF629 ZNF512 JUND CEBPB NFE2 ZNF316 FOS MAFG MUC13 lnc-MUC13-1 lnc-ITGB5-2 ITGB5
GH03J124882 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 +67.7 67667 8 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 ZNF692 TARDBP FOXA1 LARP7 PRDM1 ITGB5 ITGB5-AS1 ZNF148 MUC13 UMPS piR-51671-060
GH03J124997 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -48.5 -48459 6.2 GATAD2A ATF7 TFE3 SOX13 NFKBIZ RCOR2 ZNF7 FOXA1 RBFOX2 RXRB HEG1 MUC13 RNU6-232P ZNF148 SLC12A8 RF00017-4101 lnc-MUC13-6
GH03J124875 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 9.9 +75.7 75693 5.3 GATAD2A HNRNPL REST LEF1 IKZF1 ZNF692 RCOR2 JUND GABPA MTA2 ITGB5 ITGB5-AS1 MUC13 piR-51671-060 ENO1P3 lnc-MUC13-5 UMPS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUC13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUC13

Top Transcription factor binding sites by QIAGEN in the MUC13 gene promoter:
  • ARP-1
  • CUTL1
  • E47
  • GATA-1
  • HNF-4alpha1
  • HNF-4alpha2
  • MyoD
  • POU3F1
  • STAT5A
  • STAT5B

Genomic Locations for MUC13 Gene

Genomic Locations for MUC13 Gene
chr3:124,905,442-124,953,819
(GRCh38/hg38)
Size:
48,378 bases
Orientation:
Minus strand
chr3:124,624,289-124,672,663
(GRCh37/hg19)
Size:
48,375 bases
Orientation:
Minus strand

Genomic View for MUC13 Gene

Genes around MUC13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC13 Gene

Proteins for MUC13 Gene

  • Protein details for MUC13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3R2-MUC13_HUMAN
    Recommended name:
    Mucin-13
    Protein Accession:
    Q9H3R2
    Secondary Accessions:
    • Q6UWD9
    • Q9NXT5

    Protein attributes for MUC13 Gene

    Size:
    512 amino acids
    Molecular mass:
    54604 Da
    Quaternary structure:
    • Homodimer of beta subunits.
    SequenceCaution:
    • Sequence=BAA90925.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for MUC13 Gene

Post-translational modifications for MUC13 Gene

  • Cleaved into two subunits, alpha and beta, probably between the first EGF domain and the SEA domain. Beta subunit contains the cytoplasmic tail and alpha subunit the extracellular tail. The homooligomerization into dimers is dependent on intrachain disulfide bonds.
  • Highly N-glycosylated.
  • Glycosylation at Asn151, Asn169, Asn193, Asn206, Asn284, and Asn332
  • Modification sites at PhosphoSitePlus

Other Protein References for MUC13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MUC13 Gene

Domains & Families for MUC13 Gene

Gene Families for MUC13 Gene

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

Protein Domains for MUC13 Gene

InterPro:
Blocks:
  • SEA domain
ProtoNet:

Suggested Antigen Peptide Sequences for MUC13 Gene

GenScript: Design optimal peptide antigens:
  • Down-regulated in colon cancer 1 (MUC13_HUMAN)
genes like me logo Genes that share domains with MUC13: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MUC13 Gene

Function for MUC13 Gene

Molecular function for MUC13 Gene

UniProtKB/Swiss-Prot Function:
Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.

Phenotypes From GWAS Catalog for MUC13 Gene

Gene Ontology (GO) - Molecular Function for MUC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IDA 11278439
genes like me logo Genes that share ontologies with MUC13: view

Phenotypes for MUC13 Gene

GenomeRNAi human phenotypes for MUC13:
genes like me logo Genes that share phenotypes with MUC13: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MUC13

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUC13

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MUC13 Gene

Localization for MUC13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC13 Gene

Cell membrane. Single-pass type I membrane protein. Apical cell membrane. Secreted. Note=Also exists as a soluble form.

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 MUC13 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 4
golgi apparatus 4
mitochondrion 2
peroxisome 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MUC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 11278439
GO:0005796 Golgi lumen TAS --
GO:0005829 cytosol IMP 11278439
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with MUC13: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUC13 Gene

Pathways & Interactions for MUC13 Gene

genes like me logo Genes that share pathways with MUC13: view

Gene Ontology (GO) - Biological Process for MUC13 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 MUC13: view

No data available for SIGNOR curated interactions for MUC13 Gene

Drugs & Compounds for MUC13 Gene

No Compound Related Data Available

Transcripts for MUC13 Gene

mRNA/cDNA for MUC13 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 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 MUC13

Alternative Splicing Database (ASD) splice patterns (SP) for MUC13 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2: - - - -
SP3: -
SP4:

Relevant External Links for MUC13 Gene

GeneLoc Exon Structure for
MUC13

Expression for MUC13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MUC13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUC13 Gene

This gene is overexpressed in Colon - Transverse (x25.4) and Small Intestine - Terminal Ileum (x22.7).

Protein differential expression in normal tissues from HIPED for MUC13 Gene

This gene is overexpressed in Fetal gut (38.9), Islet of Langerhans (14.5), and Pancreatic juice (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MUC13 Gene



Protein tissue co-expression partners for MUC13 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MUC13

SOURCE GeneReport for Unigene cluster for MUC13 Gene:

Hs.5940

mRNA Expression by UniProt/SwissProt for MUC13 Gene:

Q9H3R2-MUC13_HUMAN
Tissue specificity: Highly expressed in epithelial tissues, particularly those of the gastrointestinal and respiratory tracts, such as large intestine and trachea, followed by kidney, small intestine, appendix and stomach.

Evidence on tissue expression from TISSUES for MUC13 Gene

  • Intestine(4.9)
  • Stomach(3.4)
  • Pancreas(2.6)
  • Lung(2.4)
  • Gall bladder(2.4)
  • Blood(2.4)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with MUC13: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC13 Gene

Orthologs for MUC13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUC13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MUC13 30 31
  • 99.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MUC13 30 31
  • 70.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Muc13 30
  • 59.96 (n)
Mouse
(Mus musculus)
Mammalia Muc13 30 17 31
  • 59.39 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MUC13 31
  • 42 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MUC13 31
  • 27 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MUC13 31
  • 21 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MUC13 31
  • 21 (a)
OneToOne
Species where no ortholog for MUC13 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 Squirt (Ciona savignyi)
  • 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 MUC13 Gene

ENSEMBL:
Gene Tree for MUC13 (if available)
TreeFam:
Gene Tree for MUC13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MUC13: view image

Paralogs for MUC13 Gene

Paralogs for MUC13 Gene

genes like me logo Genes that share paralogs with MUC13: view

Variants for MUC13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUC13 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1127233 - p.Arg503Ser
rs16836185 - p.Ser364Gly
rs4679392 - p.Ile100Thr
rs4679394 - p.Ala18Val

Additional dbSNP identifiers (rs#s) for MUC13 Gene

Structural Variations from Database of Genomic Variants (DGV) for MUC13 Gene

Variant ID Type Subtype PubMed ID
esv1366339 CNV insertion 17803354
nsv1001677 CNV loss 25217958
nsv1160974 CNV duplication 26073780
nsv818166 CNV loss 17921354

Variation tolerance for MUC13 Gene

Gene Damage Index Score: 5.06; 68.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUC13 Gene

Human Gene Mutation Database (HGMD)
MUC13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC13

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUC13 Gene

Disorders for MUC13 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MUC13 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tn polyagglutination syndrome
  • tnps
colorectal cancer 1
  • colorectal cancer, susceptibility to, 1
myasthenic syndrome, congenital, 21, presynaptic
  • cms21
purulent endophthalmitis
- elite association - COSMIC cancer census association via MalaCards
Search MUC13 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with MUC13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUC13 Gene

Publications for MUC13 Gene

  1. Muc13, a novel human cell surface mucin expressed by epithelial and hemopoietic cells. (PMID: 11278439) Williams SJ … McGuckin MA (The Journal of biological chemistry 2001) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  4. A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape. (PMID: 30833792) Hubel P … Pichlmair A (Nature immunology 2019) 3
  5. MUC13 promotes the development of colitis-associated colorectal tumors via β-catenin activity. (PMID: 31427737) Sheng YH … McGuckin MA (Oncogene 2019) 3

Products for MUC13 Gene

Sources for MUC13 Gene