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Aliases for MUC17 Gene

Aliases for MUC17 Gene

  • Mucin 17, Cell Surface Associated 2 3 5
  • Small Intestinal Mucin-3 3 4
  • MUC-17 3 4
  • MUC-3 3 4
  • MUC3 3 4
  • Small Intestinal Mucin MUC3 3
  • Membrane Mucin MUC17 3
  • Secreted Mucin MUC17 3
  • EC 6.3.2.8 61
  • Mucin-17 3
  • EC 3.1.3 61

External Ids for MUC17 Gene

Previous GeneCards Identifiers for MUC17 Gene

  • GC07P099168
  • GC07P100231
  • GC07P100235
  • GC07P100276
  • GC07P100450
  • GC07P100663
  • GC07P100022

Summaries for MUC17 Gene

Entrez Gene Summary for MUC17 Gene

  • The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]

GeneCards Summary for MUC17 Gene

MUC17 (Mucin 17, Cell Surface Associated) is a Protein Coding gene. Diseases associated with MUC17 include Biliary Papillomatosis and Colorectal Cancer 1. Among its related pathways are Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) and CLEC7A (Dectin-1) signaling. GO annotations related to this gene include PDZ domain binding and extracellular matrix constituent, lubricant activity. An important paralog of this gene is MUC3A.

UniProtKB/Swiss-Prot for MUC17 Gene

  • Probably plays a role in maintaining homeostasis on mucosal surfaces.

Gene Wiki entry for MUC17 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUC17 Gene

Genomics for MUC17 Gene

Regulatory Elements for MUC17 Gene

Enhancers for MUC17 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
GH07G101098 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +82.0 81950 6.4 MLX CREB3L1 DMAP1 YY1 SLC30A9 MEF2D SSRP1 GLIS1 RCOR2 NBN SERPINE1 VGF NAT16 MUC12 MUC3A MBLAC1 MUC17 TRIM56 PCOLCE-AS1 LOC102724094
GH07G101107 1.4 Ensembl ENCODE dbSUPER 10.4 +89.0 88992 2.5 ELF3 PKNOX1 TBL1XR1 ARID4B ZNF48 RARA EGR1 SCRT2 FOS RELB VGF NAT16 MUC12 MUC3A MUC17 PCOLCE-AS1 ACHE AP1S1 LOC102724094 SERPINE1
GH07G100989 1.2 ENCODE dbSUPER 12.1 -36.5 -36486 1.3 ATF1 PKNOX1 ARNT FEZF1 ZBTB7B GLIS2 ZNF143 ZNF202 SP3 SMARCA4 GIGYF1 STAG3L5P ENSG00000242798 MEPCE MUC3A MUC17 PPP1R35 AP4M1 LOC102724094 TRIP6
GH07G100984 1.1 ENCODE dbSUPER 12.1 -35.4 -35358 0.2 PKNOX1 ATF1 TCF12 GATA2 CREM REST ZEB2 NFIC MTA1 KLF16 MUC3A MUC17 GC07P100986 MUC12
GH07G101110 1.2 ENCODE dbSUPER 10.4 +93.2 93238 4.9 PKNOX1 ZNF493 ZFP64 ZNF121 GATA2 KLF7 FOS ZNF202 REST ZNF623 GIGYF1 PCOLCE-AS1 ENSG00000242798 STAG3L5P PCOLCE ACTL6B VGF NAT16 MBLAC1 NYAP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MUC17 on UCSC Golden Path with GeneCards custom track

Genomic Location for MUC17 Gene

Chromosome:
7
Start:
101,020,072 bp from pter
End:
101,058,859 bp from pter
Size:
38,788 bases
Orientation:
Plus strand

Genomic View for MUC17 Gene

Genes around MUC17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC17 Gene

Proteins for MUC17 Gene

  • Protein details for MUC17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q685J3-MUC17_HUMAN
    Recommended name:
    Mucin-17
    Protein Accession:
    Q685J3
    Secondary Accessions:
    • O14761
    • Q685J2
    • Q8TDH7

    Protein attributes for MUC17 Gene

    Size:
    4493 amino acids
    Molecular mass:
    451741 Da
    Quaternary structure:
    • Interacts via its C-terminus with PDZK1 and this interaction appears important for proper localization.

    Alternative splice isoforms for MUC17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MUC17 Gene

Selected DME Specific Peptides for MUC17 Gene

Q685J3:
  • VVTSTAV
  • EINSLST

Post-translational modifications for MUC17 Gene

  • N-glycosylated. Contains high mannose and complex-type glycans. The forms containing the complex type glycans localize to the cell surface. Not O-glycosylated.
  • Probably cleaved within the SEA domain.
  • Glycosylation at Ser56, posLast=471471, posLast=696696, Asn898, Asn1345, Asn2077, Asn2194, posLast=33443344, Asn4116, posLast=42054205, Asn4236, Asn4267, Asn4297, and posLast=43054305
  • Modification sites at PhosphoSitePlus

Other Protein References for MUC17 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MUC17 Gene

Gene Families for MUC17 Gene

HGNC:

Protein Domains for MUC17 Gene

Suggested Antigen Peptide Sequences for MUC17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MUC17: view

No data available for UniProtKB/Swiss-Prot for MUC17 Gene

Function for MUC17 Gene

Molecular function for MUC17 Gene

UniProtKB/Swiss-Prot Function:
Probably plays a role in maintaining homeostasis on mucosal surfaces.

Enzyme Numbers (IUBMB) for MUC17 Gene

Gene Ontology (GO) - Molecular Function for MUC17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17990980
GO:0030165 PDZ domain binding IPI 17990980
GO:0030197 extracellular matrix constituent, lubricant activity NAS 9299468
genes like me logo Genes that share ontologies with MUC17: view
genes like me logo Genes that share phenotypes with MUC17: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MUC17 Gene

Localization for MUC17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC17 Gene

Isoform 1: Cell membrane; Single-pass membrane protein.
Isoform 2: Secreted. Cell membrane.

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 MUC17 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
extracellular 4
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MUC17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IDA 12888891
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MUC17: view

Pathways & Interactions for MUC17 Gene

genes like me logo Genes that share pathways with MUC17: view

Interacting Proteins for MUC17 Gene

Gene Ontology (GO) - Biological Process for MUC17 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:0019725 cellular homeostasis TAS 17990980
genes like me logo Genes that share ontologies with MUC17: view

No data available for SIGNOR curated interactions for MUC17 Gene

Drugs & Compounds for MUC17 Gene

(1) Drugs for MUC17 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MUC17: view

Transcripts for MUC17 Gene

Unigene Clusters for MUC17 Gene

Mucin 17, cell surface associated:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUC17 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -

Relevant External Links for MUC17 Gene

GeneLoc Exon Structure for
MUC17
ECgene alternative splicing isoforms for
MUC17

Expression for MUC17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MUC17 Gene

mRNA differential expression in normal tissues according to GTEx for MUC17 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x48.2).

Protein differential expression in normal tissues from HIPED for MUC17 Gene

This gene is overexpressed in Kidney (58.8) and Fetal gut (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MUC17 Gene



Protein tissue co-expression partners for MUC17 Gene

NURSA nuclear receptor signaling pathways regulating expression of MUC17 Gene:

MUC17

SOURCE GeneReport for Unigene cluster for MUC17 Gene:

Hs.271819

mRNA Expression by UniProt/SwissProt for MUC17 Gene:

Q685J3-MUC17_HUMAN
Tissue specificity: Expressed almost exclusively in the intestine. Expression is especially high in both the duodenum and transverse colon. Expressed in mature absorptive cells of the small intestinal villi. No expression is detected in goblet cells. Highly expressed in pancreatic adenocarcinoma tissue (at protein level). Expression is not detectable in normal pancreas, in pancreatitis or in cell lines derived from other cancers.

Evidence on tissue expression from TISSUES for MUC17 Gene

  • Intestine(4.5)
  • Stomach(3.1)
genes like me logo Genes that share expression patterns with MUC17: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC17 Gene

Orthologs for MUC17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUC17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUC17 34
  • 85.21 (n)
mouse
(Mus musculus)
Mammalia Muc3 35
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 38 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MUC17 35
  • 35 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUC17 35
  • 20 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 35
  • 18 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 29 (a)
ManyToMany
Species where no ortholog for MUC17 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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 MUC17 Gene

ENSEMBL:
Gene Tree for MUC17 (if available)
TreeFam:
Gene Tree for MUC17 (if available)

Paralogs for MUC17 Gene

Paralogs for MUC17 Gene

(2) SIMAP similar genes for MUC17 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MUC17: view

Variants for MUC17 Gene

Sequence variations from dbSNP and Humsavar for MUC17 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs193920784 Uncertain significance 101,040,366(+) CTGGC(A/G)AAAGA nc-transcript-variant, reference, missense
rs1000004435 -- 101,039,451(+) CTGAA(A/G)GTAGC nc-transcript-variant, reference, missense
rs1000056282 -- 101,018,863(+) CCTCG(-/GCACCCCT)GCACC upstream-variant-2KB, utr-variant-3-prime
rs1000107887 -- 101,050,287(+) AGGGG(A/G)CCCAG intron-variant
rs1000140890 -- 101,041,536(+) CCACT(G/T)CTACT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MUC17 Gene

Variant ID Type Subtype PubMed ID
dgv1108e201 CNV deletion 23290073
dgv1109e201 CNV deletion 23290073
dgv1229e199 CNV deletion 23128226
esv23580 CNV gain 19812545
esv2663086 CNV deletion 23128226
esv2669267 CNV deletion 23128226
esv2673265 CNV deletion 23128226
esv2734888 CNV deletion 23290073
esv2734915 CNV deletion 23290073
esv2734923 CNV deletion 23290073
esv2734924 CNV deletion 23290073
esv2759547 CNV gain+loss 17122850
esv3419197 CNV duplication 20981092
esv3441122 CNV duplication 20981092
esv3542163 CNV deletion 23714750
esv3614313 CNV gain 21293372
nsv1033081 CNV gain 25217958
nsv1074535 CNV deletion 25765185
nsv1078027 CNV duplication 25765185
nsv1115760 CNV duplication 24896259
nsv1128954 CNV duplication 24896259
nsv1147714 CNV duplication 26484159
nsv366275 CNV deletion 16902084
nsv366400 CNV deletion 16902084
nsv428181 CNV gain+loss 18775914
nsv5872 CNV insertion 18451855
nsv5873 CNV insertion 18451855
nsv8188 CNV gain 18304495
nsv820525 CNV duplication 20802225
nsv831074 CNV loss 17160897
nsv831075 CNV loss 17160897

Variation tolerance for MUC17 Gene

Residual Variation Intolerance Score: 100% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.19; 95.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MUC17 Gene

Human Gene Mutation Database (HGMD)
MUC17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUC17 Gene

Disorders for MUC17 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MUC17 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
biliary papillomatosis
  • bile duct papillomatosis
colorectal cancer 1
  • susceptibility to colorectal adenoma and cancer
colorectal cancer
  • colorectal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search MUC17 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MUC17

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MUC17
genes like me logo Genes that share disorders with MUC17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUC17 Gene

Publications for MUC17 Gene

  1. MUC17, a novel membrane-tethered mucin. (PMID: 11855812) Gum J.R. Jr. … Kim Y.S. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 22 64
  2. Human intestinal MUC17 mucin augments intestinal cell restitution and enhances healing of experimental colitis. (PMID: 20211273) Luu Y. … Ho S.B. (Int. J. Biochem. Cell Biol. 2010) 3 22 64
  3. The C-terminus of the transmembrane mucin MUC17 binds to the scaffold protein PDZK1 that stably localizes it to the enterocyte apical membrane in the small intestine. (PMID: 17990980) Malmberg E.K. … Hansson G.C. (Biochem. J. 2008) 3 4 64
  4. Characterization of human mucin MUC17. Complete coding sequence and organization. (PMID: 16737958) Moniaux N. … Batra S.K. (J. Biol. Chem. 2006) 3 4 64
  5. N-glycosylation is required for the surface localization of MUC17 mucin. (PMID: 12888891) Ho J.J.L. … Kim Y.S. (Int. J. Oncol. 2003) 3 4 64

Products for MUC17 Gene

Sources for MUC17 Gene

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