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Aliases for MUC12 Gene

Aliases for MUC12 Gene

  • Mucin 12, Cell Surface Associated 2 3 5
  • Mucin-11 3 4
  • MUC-11 3 4
  • MUC-12 3 4
  • MUC11 3 4
  • Mucin 11 2
  • Mucin-12 3

External Ids for MUC12 Gene

Previous HGNC Symbols for MUC12 Gene

  • MUC11

Previous GeneCards Identifiers for MUC12 Gene

  • GC07P099131
  • GC07P100194
  • GC07P100208
  • GC07P100240
  • GC07P100429
  • GC07P100612
  • GC07P095191

Summaries for MUC12 Gene

Entrez Gene Summary for MUC12 Gene

  • This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017]

GeneCards Summary for MUC12 Gene

MUC12 (Mucin 12, Cell Surface Associated) is a Protein Coding gene. Diseases associated with MUC12 include Colorectal Cancer and Colorectal Cancer 1. Among its related pathways are Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) and CLEC7A (Dectin-1) signaling.

UniProtKB/Swiss-Prot for MUC12 Gene

  • Involved in epithelial cell protection, adhesion modulation, and signaling. May be involved in epithelial cell growth regulation. Stimulated by both cytokine TNF-alpha and TGF-beta in intestinal epithelium.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUC12 Gene

Genomics for MUC12 Gene

Regulatory Elements for MUC12 Gene

Enhancers for MUC12 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 11 +132.4 132399 6.4 MLX CREB3L1 DMAP1 YY1 SLC30A9 MEF2D SSRP1 GLIS1 RCOR2 NBN SERPINE1 VGF NAT16 MUC12 MBLAC1 MUC3A MUC17 TRIM56 PCOLCE-AS1 LOC102724094
GH07G101107 1.4 Ensembl ENCODE dbSUPER 10.5 +139.4 139441 2.5 ELF3 PKNOX1 TBL1XR1 ARID4B ZNF48 RARA EGR1 SCRT2 FOS RELB VGF NAT16 MUC12 MUC3A MUC17 PCOLCE-AS1 ACHE AP1S1 LOC102724094 SERPINE1
GH07G101110 1.2 ENCODE dbSUPER 10.5 +143.7 143687 4.9 ZNF493 ZFP64 ZNF121 GATA2 KLF7 FOS ZNF202 REST ZNF623 ZNF518A GIGYF1 PCOLCE-AS1 ENSG00000242798 STAG3L5P PCOLCE ACTL6B VGF NAT16 MBLAC1 NYAP1
GH07G100941 1 ENCODE 12.2 -26.7 -26744 1.9 HDGF HNRNPUL1 PKNOX1 ATF1 MLX AGO1 ARID4B FEZF1 YY1 ZNF121 GIGYF1 STAG3L5P ENSG00000242798 MEPCE MUC12 PPP1R35 AP4M1 MUC17 ACHE MUC3A
GH07G100928 0.8 ENCODE 11.4 -39.9 -39927 2.4 FOXA2 RCOR1 RELB CREM IKZF2 ZNF362 JUNB CEBPB TBX21 RAD51 ACHE UFSP1 MUC12 MUC17 NAT16 MOSPD3 TRIP6 TAF6 RPS29P15 GC07P100932
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MUC12 on UCSC Golden Path with GeneCards custom track

Genomic Location for MUC12 Gene

Chromosome:
7
Start:
100,969,623 bp from pter
End:
101,018,949 bp from pter
Size:
49,327 bases
Orientation:
Plus strand

Genomic View for MUC12 Gene

Genes around MUC12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC12 Gene

Proteins for MUC12 Gene

  • Protein details for MUC12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKN1-MUC12_HUMAN
    Recommended name:
    Mucin-12
    Protein Accession:
    Q9UKN1
    Secondary Accessions:
    • A6ND38
    • F5GWV9
    • Q9UKN0

    Protein attributes for MUC12 Gene

    Size:
    5478 amino acids
    Molecular mass:
    558164 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Infection by L.monocytogenes induces increases in mucin secretion and MUC4 and MUC12 transcription. This may constitute a host cell defense response that inhibits the entry of listeria monocytogenes in the cell.

    Alternative splice isoforms for MUC12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MUC12 Gene

Post-translational modifications for MUC12 Gene

  • Glycosylation at Asn154, posLast=170170, posLast=176176, Asn382, posLast=738738, posLast=17931793, Asn3350, Asn4433, posLast=45714571, posLast=51695169, posLast=51825182, Asn5197, Asn5228, and Asn5264
  • Modification sites at PhosphoSitePlus

Other Protein References for MUC12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MUC12 Gene

Domains & Families for MUC12 Gene

Gene Families for MUC12 Gene

HGNC:

Protein Domains for MUC12 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MUC12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UKN1

UniProtKB/Swiss-Prot:

MUC12_HUMAN :
  • The proteolytic cleavage occurs within the SEA domain. This domain is not interchangeable, suggesting that it is insufficient to mediate efficient cleavage.
Domain:
  • The proteolytic cleavage occurs within the SEA domain. This domain is not interchangeable, suggesting that it is insufficient to mediate efficient cleavage.
genes like me logo Genes that share domains with MUC12: view

Function for MUC12 Gene

Molecular function for MUC12 Gene

GENATLAS Biochemistry:
mucin 12,cell surface glycoprotein,expressed in colon,down-regulated in colorectal cancer,maybe involved in epithelial cell regulation
UniProtKB/Swiss-Prot Function:
Involved in epithelial cell protection, adhesion modulation, and signaling. May be involved in epithelial cell growth regulation. Stimulated by both cytokine TNF-alpha and TGF-beta in intestinal epithelium.
UniProtKB/Swiss-Prot Induction:
By listeriolysin O.

Gene Ontology (GO) - Molecular Function for MUC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with MUC12: view

Phenotypes for MUC12 Gene

genes like me logo Genes that share phenotypes with MUC12: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MUC12 Gene

Localization for MUC12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC12 Gene

Membrane; Single-pass type I membrane protein.

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 MUC12 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
cytosol 3
extracellular 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MUC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 10463611
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MUC12: view

Pathways & Interactions for MUC12 Gene

genes like me logo Genes that share pathways with MUC12: view

Interacting Proteins for MUC12 Gene

Gene Ontology (GO) - Biological Process for MUC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth NAS 10463611
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with MUC12: view

No data available for SIGNOR curated interactions for MUC12 Gene

Drugs & Compounds for MUC12 Gene

No Compound Related Data Available

Transcripts for MUC12 Gene

Unigene Clusters for MUC12 Gene

Mucin 12, cell surface associated:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MUC12 Gene

No ASD Table

Relevant External Links for MUC12 Gene

GeneLoc Exon Structure for
MUC12
ECgene alternative splicing isoforms for
MUC12

Expression for MUC12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MUC12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUC12 Gene

This gene is overexpressed in Colon - Transverse (x39.5), Colon - Sigmoid (x5.4), and Prostate (x4.6).

Protein differential expression in normal tissues from HIPED for MUC12 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (28.7), Lung (28.6), and Rectum (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MUC12 Gene



Protein tissue co-expression partners for MUC12 Gene

NURSA nuclear receptor signaling pathways regulating expression of MUC12 Gene:

MUC12

SOURCE GeneReport for Unigene cluster for MUC12 Gene:

Hs.489355

mRNA Expression by UniProt/SwissProt for MUC12 Gene:

Q9UKN1-MUC12_HUMAN
Tissue specificity: Ubiquitous, with higher expression in colon. Down-regulated in colorectal cancer as well as in the colon of patients with ulcerative colitis (UC) and Crohns disease (CD).

Evidence on tissue expression from TISSUES for MUC12 Gene

  • Intestine(5)
genes like me logo Genes that share expression patterns with MUC12: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC12 Gene

Orthologs for MUC12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUC12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUC12 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MUC12 35
  • 38 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 32 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 27 (a)
ManyToMany
Species where no ortholog for MUC12 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)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • 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 MUC12 Gene

ENSEMBL:
Gene Tree for MUC12 (if available)
TreeFam:
Gene Tree for MUC12 (if available)

Paralogs for MUC12 Gene

(4) SIMAP similar genes for MUC12 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MUC12: view

No data available for Paralogs for MUC12 Gene

Variants for MUC12 Gene

Sequence variations from dbSNP and Humsavar for MUC12 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs200303708 untested 100,999,174(+) CACCT(A/G)CAACC reference, missense
rs1000056282 -- 101,018,863(+) CCTCG(-/GCACCCCT)GCACC upstream-variant-2KB, utr-variant-3-prime
rs1000114300 -- 101,005,087(+) GCACC(A/C)CAGTG reference, missense
rs1000210596 -- 100,981,991(+) CCTCC(A/G)GAGTA intron-variant
rs1000233306 -- 100,969,439(+) TCCCC(A/G)TGGTC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MUC12 Gene

Variant ID Type Subtype PubMed ID
dgv1106e201 CNV deletion 23290073
dgv1107e201 CNV deletion 23290073
dgv3629n106 CNV deletion 24896259
dgv3888e59 CNV duplication 20981092
esv1007842 CNV insertion 20482838
esv1426303 CNV deletion 17803354
esv24638 CNV gain+loss 19812545
esv2667109 CNV deletion 23128226
esv2734888 CNV deletion 23290073
esv2734907 CNV deletion 23290073
esv2759547 CNV gain+loss 17122850
esv3333586 CNV duplication 20981092
esv3542162 CNV deletion 23714750
esv3614313 CNV gain 21293372
esv3614315 CNV loss 21293372
nsv1076628 CNV duplication 25765185
nsv1076937 CNV deletion 25765185
nsv1119228 CNV duplication 24896259
nsv1124975 CNV duplication 24896259
nsv1128351 CNV deletion 24896259
nsv1140828 CNV deletion 24896259
nsv1149881 CNV duplication 26484159
nsv428181 CNV gain+loss 18775914
nsv513678 OTHER inversion 21212237
nsv5871 CNV insertion 18451855
nsv5872 CNV insertion 18451855
nsv607971 CNV loss 21841781
nsv7 CNV insertion 15895083
nsv8 CNV insertion 15895083
nsv8187 CNV gain+loss 18304495
nsv820330 CNV duplication 20802225
nsv824240 CNV gain 20364138
nsv831074 CNV loss 17160897

Variation tolerance for MUC12 Gene

Gene Damage Index Score: 19.65; 98.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MUC12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUC12 Gene

Disorders for MUC12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MUC12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer
  • colorectal cancer, somatic
colorectal cancer 1
  • susceptibility to colorectal adenoma and cancer
- elite association - COSMIC cancer census association via MalaCards
Search MUC12 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MUC12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MUC12
genes like me logo Genes that share disorders with MUC12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUC12 Gene

Publications for MUC12 Gene

  1. Two novel mucin genes down-regulated in colorectal cancer identified by differential display. (PMID: 10463611) Williams S.J. … Antalis T.M. (Cancer Res. 1999) 2 3 4 22 64
  2. Genetic Mutation and Exosome Signature of Human Papilloma Virus Associated Oropharyngeal Cancer. (PMID: 28383029) Kannan A. … Dasgupta S. (Sci Rep 2017) 3 64
  3. Alterations in the epithelial stem cell compartment could contribute to permanent changes in the mucosa of patients with ulcerative colitis. (PMID: 27803115) Dotti I. … Salas A. (Gut 2016) 3 64
  4. Mucins: a biologically relevant glycan barrier in mucosal protection. (PMID: 24821013) Corfield A.P. (Biochim. Biophys. Acta 2015) 3 64
  5. Differential Expression of MUC12, MUC16, and MUC20 in Patients with Active and Remission Ulcerative Colitis. (PMID: 26770020) Yamamoto-Furusho J.K. … Fonseca-Camarillo G. (Mediators Inflamm. 2015) 3 64

Products for MUC12 Gene

Sources for MUC12 Gene

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