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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
  • MUC-13 3 4
  • DRCC1 3 4
  • Mucin-13 3
  • 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 Purulent Endophthalmitis and Colorectal Cancer 1. Among its related pathways are Immune System and HIV Life Cycle. GO annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot for MUC13 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUC13 Gene

Genomics for MUC13 Gene

Regulatory Elements for MUC13 Gene

Enhancers for MUC13 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
GH03F124925 1.2 Ensembl ENCODE 12.7 +23.3 23346 10.4 HDGF PKNOX1 ATF1 MLX ZNF143 NCOA1 REST TBX21 KAT8 SMARCA4 ITGB5 MUC13 ITGB5-AS1 RNU6-232P UMPS
GH03F124882 1.4 FANTOM5 ENCODE 9.9 +67.7 67668 8.0 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2 ZNF263 SP3 ITGB5 ITGB5-AS1 MUC13 GC03M124774 GC03P124890
GH03F124790 1.4 FANTOM5 Ensembl ENCODE 9.8 +161.4 161370 3.9 ARID4B ZNF2 ZNF48 RARA FOS THAP11 SMARCC1 MAFF IKZF1 HMBOX1 ITGB5 MUC13 UMPS ENSG00000276626 ITGB5-AS1
GH03F124875 1.3 Ensembl ENCODE 9.9 +75.8 75831 5.6 PKNOX1 ATF1 ARID4B SIN3A ZNF48 YY1 ZNF121 GATA2 FOS KLF13 ITGB5 ITGB5-AS1 MUC13 GC03M124774 ENO1P3
GH03F125079 1.1 Ensembl ENCODE 10.3 -125.7 -125682 1.0 SOX13 SIX4 PKNOX1 SAP130 ZFP64 JUN ZNF384 CEBPG RARA GATA3 HEG1 RNU6-230P SLC12A8 MUC13 RNU6-232P RNA5SP137 GC03M125120
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MUC13 on UCSC Golden Path with GeneCards custom track

Genomic Location for MUC13 Gene

Chromosome:
3
Start:
124,905,442 bp from pter
End:
124,953,819 bp from pter
Size:
48,378 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=Translation N-terminally extended.; 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 Asn 151, Asn 169, Asn 193, Asn 206, Asn 284, and Asn 332
  • Modification sites at PhosphoSitePlus

Other Protein References for MUC13 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for MUC13

No data available for DME Specific Peptides for MUC13 Gene

Domains & Families for MUC13 Gene

Gene Families for MUC13 Gene

HGNC:

Protein Domains for MUC13 Gene

Suggested Antigen Peptide Sequences for MUC13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H3R2

UniProtKB/Swiss-Prot:

MUC13_HUMAN :
  • Contains 3 EGF-like domains.
Domain:
  • Contains 3 EGF-like domains.
  • Contains 1 SEA domain.
genes like me logo Genes that share domains with MUC13: view

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.

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

Animal Model Products

  • Taconic Biosciences Mouse Models for MUC13

miRNA for MUC13 Gene

miRTarBase miRNAs that target MUC13

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , 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
peroxisome 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MUC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 11278439
GO:0005796 Golgi lumen TAS --
GO:0005829 cytosol IMP 11278439
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MUC13: view

Pathways & Interactions for MUC13 Gene

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

Interacting Proteins for MUC13 Gene

Selected Interacting proteins: Q9H3R2-MUC13_HUMAN for MUC13 Gene via IID

Gene Ontology (GO) - Biological Process for MUC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Transcripts for MUC13 Gene

Unigene Clusters for MUC13 Gene

Mucin 13, cell surface associated:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of MUC13 Gene:

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.
genes like me logo Genes that share expression patterns with MUC13: view

Primer Products

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 34 35
  • 99.06 (n)
cow
(Bos Taurus)
Mammalia MUC13 34 35
  • 70.11 (n)
rat
(Rattus norvegicus)
Mammalia Muc13 34
  • 59.96 (n)
mouse
(Mus musculus)
Mammalia Muc13 34 16 35
  • 59.39 (n)
dog
(Canis familiaris)
Mammalia MUC13 35
  • 42 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MUC13 35
  • 27 (a)
OneToOne
chicken
(Gallus gallus)
Aves MUC13 35
  • 21 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MUC13 35
  • 21 (a)
OneToOne
Species where no ortholog for MUC13 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)
  • 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 squirt (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)

Paralogs for MUC13 Gene

No data available for Paralogs for MUC13 Gene

Variants for MUC13 Gene

Sequence variations from dbSNP and Humsavar for MUC13 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1008170 -- 124,922,629(-) ACCCT(A/G)TCTGT intron-variant
rs1043332 -- 124,905,699(-) GGTTT(C/T)TGAGG utr-variant-3-prime
rs1043335 -- 124,905,544(-) TATTT(C/T)TAATG utr-variant-3-prime
rs10717089 -- 124,905,397(+) aaaaa(-/A)gaaag downstream-variant-500B
rs10804566 -- 124,930,675(+) CTGAC(C/T)TGGTT intron-variant

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)

Relevant External Links for MUC13 Gene

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

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

Disorders for MUC13 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
purulent endophthalmitis
colorectal cancer 1
  • susceptibility to colorectal adenoma and cancer
immune system disease
  • immune system and disorders
- elite association - COSMIC cancer census association via MalaCards
Search MUC13 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MUC13

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MUC13
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 S.J. … McGuckin M.A. (J. Biol. Chem. 2001) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  4. Nasopharyngeal gene expression, a novel approach to study the course of respiratory syncytial virus infection. (PMID: 25261323) van den Kieboom C.H. … de Jonge M.I. (Eur. Respir. J. 2015) 3 64
  5. A newly developed anti-Mucin 13 monoclonal antibody targets pancreatic ductal adenocarcinoma cells. (PMID: 25672256) Nishii Y. … Sakuma Y. (Int. J. Oncol. 2015) 3 64

Products for MUC13 Gene

Sources for MUC13 Gene

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