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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
  • Mucin-17 3

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 O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and extracellular matrix constituent, lubricant activity. An important paralog of this gene is MUC12.

UniProtKB/Swiss-Prot for MUC17 Gene

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

Gene Wiki entry for MUC17 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for MUC17 Gene

Promoters and enhancers for MUC17 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
GH07J101016 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.4 -414 6.5 HDGF PKNOX1 FOXA2 ARNT SIN3A YBX1 IRF4 ZNF143 FOS ZNF263 MUC17 AP4M1 GIGYF1 STAG3L5P SRRT PPP1R35 ZNF3 PILRB ENSG00000242798 CNPY4
GH07J101098 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +81.9 81949 6.4 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 GIGYF1 SRRT STAG3L5P SERPINE1 VGF NAT16 PCOLCE ENSG00000242798 PPP1R35 MUC12
GH07J101107 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.4 +89.0 88992 2.5 ELF3 PKNOX1 ARID4B ZNF48 RARA EGR1 SCRT2 ZFP91 ATF7 FOS VGF NAT16 MUC12 MUC3A MUC17 PCOLCE-AS1 ACHE AP1S1 LOC102724094 SERPINE1
GH07J100984 Enhancer 1 ENCODE dbSUPER 12.1 -35.4 -35357 0.2 HDAC1 PKNOX1 ATF1 ARNT TCF12 GATA2 CREM NCOA1 REST ZEB2 GC07P100986 GC07M100985 MUC3A MUC17 MUC12
GH07J101058 Enhancer 0.9 ENCODE 12.3 +38.5 38503 0.1 FOXA2 MLX ARID4B SIN3A ZNF48 SLC30A9 ZNF766 ZNF143 NFKBIZ RXRA GC07P101059 RN7SKP54 UFSP1 ACHE MUC17 VGF GC07P101044 TRIM56
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUC17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MUC17 gene promoter:
  • NF-kappaB1
  • NRSF form 2
  • NRSF form 1
  • NF-kappaB

Genomic Locations for MUC17 Gene

Genomic Locations for MUC17 Gene
chr7:101,020,072-101,058,859
(GRCh38/hg38)
Size:
38,788 bases
Orientation:
Plus strand
chr7:100,663,353-100,702,140
(GRCh37/hg19)
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

Post-translational modifications for MUC17 Gene

  • Probably cleaved within the SEA domain.
  • N-glycosylated. Contains high mannose and complex-type glycans. The forms containing the complex type glycans localize to the cell surface. Not O-glycosylated.
  • Glycosylation at isoforms=24305, Asn4297, Asn4267, Asn4236, Asn4205, isoforms=24116, Asn3344, Asn2194, Asn2077, isoforms=21345, Asn898, isoforms=2696, isoforms=2471, and isoforms=256
  • Modification sites at PhosphoSitePlus

Other Protein References for MUC17 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MUC17 Gene

Domains & Families for MUC17 Gene

Gene Families for MUC17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins

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.

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUC17 Gene

Pathways & Interactions for MUC17 Gene

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

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

mRNA/cDNA for MUC17 Gene

Unigene Clusters for MUC17 Gene

Mucin 17, cell surface associated:
Representative Sequences:

Clone 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 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

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 33
  • 85.21 (n)
mouse
(Mus musculus)
Mammalia Muc3 34
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 38 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MUC17 34
  • 35 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUC17 34
  • 20 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 34
  • 18 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MUC17: view image

Paralogs for MUC17 Gene

Paralogs for MUC17 Gene

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

  • MUC17_HUMAN
  • A1A4F7_HUMAN
  • E7EPM4_HUMAN
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 Variation AA Info Type
rs193920784 uncertain-significance, Malignant tumor of prostate 101,040,366(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000004435 -- 101,039,451(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000056282 -- 101,018,864(+) GCACCCCTG/GCACCCCTGCACCCCTG upstream_transcript_variant
rs1000107887 -- 101,050,287(+) G/A intron_variant
rs1000140890 -- 101,041,536(+) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for MUC17 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MUC17 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MUC17 Gene - From: HGMD and GeneCards

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

Additional Disease Information for 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 JR … Kim YS (Biochemical and biophysical research communications 2002) 2 3 4 22 58
  2. Human intestinal MUC17 mucin augments intestinal cell restitution and enhances healing of experimental colitis. (PMID: 20211273) Luu Y … Ho SB (The international journal of biochemistry & cell biology 2010) 3 22 58
  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 EK … Hansson GC (The Biochemical journal 2008) 3 4 58
  4. Characterization of human mucin MUC17. Complete coding sequence and organization. (PMID: 16737958) Moniaux N … Batra SK (The Journal of biological chemistry 2006) 3 4 58
  5. N-glycosylation is required for the surface localization of MUC17 mucin. (PMID: 12888891) Ho JJ … Kim YS (International journal of oncology 2003) 3 4 58

Products for MUC17 Gene

Sources for MUC17 Gene

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