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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 O-linked glycosylation 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.

Additional gene information for MUC13 Gene

No data available for CIViC summary , 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
GH03H124882 1.7 FANTOM5 ENCODE dbSUPER 9.9 +67.7 67668 8 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 SP3 SP5 ITGB5 ITGB5-AS1 MUC13 GC03P124890 GC03M124774
GH03H124875 1.6 Ensembl ENCODE dbSUPER 9.9 +75.7 75693 5 HDGF PKNOX1 FOXA2 ARID4B SIN3A YY1 FOS REST SMARCB1 ZNF592 ITGB5 ITGB5-AS1 MUC13 GC03M124774 ENO1P3
GH03H125000 1.3 ENCODE dbSUPER 11.2 -49.2 -49165 4 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ATF7 SP5 MUC13 RNU6-232P ZNF148 SLC12A8 HEG1 PIR63061
GH03H124925 1.1 ENCODE dbSUPER 12.7 +23.3 23346 10 HDGF SOX13 CTCF PKNOX1 BMI1 BATF RAD21 SMC3 ZNF143 ATF7 ITGB5 MUC13 ITGB5-AS1 RNU6-232P UMPS
GH03H124790 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +161.4 161424 3 KLF1 SMARCC1 JUN MAX ZNF316 JUND MAFF KLF9 HMBOX1 FOXP2 ITGB5 MUC13 UMPS ENSG00000276626 ITGB5-AS1
- 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 Asn151, Asn169, Asn193, Asn206, posLast=284284, 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

Suggested Antigen Peptide Sequences for MUC13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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

Animal Model Products

  • Taconic Biosciences Mouse Models for MUC13

CRISPR Products

miRNA for MUC13 Gene

miRTarBase miRNAs that target MUC13

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MUC13
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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: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

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: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

Unigene Clusters for MUC13 Gene

Mucin 13, cell surface associated:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MUC13
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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.

Evidence on tissue expression from TISSUES for MUC13 Gene

  • Intestine(4.9)
  • Stomach(3.1)
genes like me logo Genes that share expression patterns with MUC13: view

Primer Products

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 33 34
  • 99.06 (n)
cow
(Bos Taurus)
Mammalia MUC13 33 34
  • 70.11 (n)
rat
(Rattus norvegicus)
Mammalia Muc13 33
  • 59.96 (n)
mouse
(Mus musculus)
Mammalia Muc13 16 34 33
  • 59.39 (n)
dog
(Canis familiaris)
Mammalia MUC13 34
  • 42 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MUC13 34
  • 27 (a)
OneToOne
chicken
(Gallus gallus)
Aves MUC13 34
  • 21 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MUC13 34
  • 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
rs1000122733 -- 124,919,983(+) GTGCA(C/T)AAGTT intron-variant
rs1000311618 -- 124,926,242(+) GAGAT(C/T)TGGGG intron-variant
rs1000332814 -- 124,917,306(+) TCAGG(A/G)TATAT intron-variant
rs1000340067 -- 124,911,290(+) CTGCT(A/G)TATGG intron-variant
rs1000386662 -- 124,917,085(+) CCTAC(C/G)AGCAA 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

(2) MalaCards diseases for MUC13 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
purulent endophthalmitis
colorectal cancer 1
  • susceptibility to colorectal adenoma and cancer
- 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 SJ … McGuckin MA (The Journal of biological chemistry 2001) 2 3 4 22 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. MUC13 overexpression in renal cell carcinoma plays a central role in tumour progression and drug resistance. (PMID: 28205224) Sheng Y … McGuckin MA (International journal of cancer 2017) 3 60
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60

Products for MUC13 Gene

Sources for MUC13 Gene

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