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 ... See more...

Aliases for MUC12 Gene

Aliases for MUC12 Gene

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

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 Tn Polyagglutination Syndrome and Colorectal Cancer. Among its related pathways are Metabolism of proteins and CLEC7A (Dectin-1) signaling. An important paralog of this gene is SRRM2.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for MUC12 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MUC12 Gene

Genomics for MUC12 Gene

GeneHancer (GH) Regulatory Elements for MUC12 Gene

Promoters and enhancers for MUC12 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
GH07J100968 Enhancer 0.2 Ensembl 500.7 -0.8 -822 0.4 ENSG00000274993 MUC12 RF00017-6488 RF00017-6494
GH07J101098 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 11 +132.4 132387 6.3 ZNF217 NRF1 TCF12 POLR2G USF1 NCOR1 JUND TEAD4 FOS ZNF639 SERPINE1 VGF NAT16 MUC12 MUC3A MUC17 TRIM56 PCOLCE-AS1 MUC12-AS1 AP1S1
GH07J101110 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 10.5 +143.7 143686 4.9 FOS NR2F2 NFIC NR3C1 JUND MCM7 ZC3H8 PKNOX1 FOXP2 ZBTB7A VGF NAT16 MUC12 MUC3A MUC17 SERPINE1 MOSPD3 PCOLCE-AS1 PCOLCE TRIP6
GH07J100941 Enhancer 1 Ensembl ENCODE 12.3 -26.6 -26649 2.1 ZNF217 TCF12 USF1 ZIC2 ATF2 HDAC2 OSR2 ELK1 CEBPB CEBPG piR-41195-068 MUC12 MUC17 GIGYF1 ACHE MUC3A LOC105375431 RF00017-6488 RF00017-6494
GH07J101107 Enhancer 1 ENCODE dbSUPER 10.5 +139.4 139441 2.5 SP1 TCF7 RELA SIN3A KLF9 TCF12 FOS SRF SAP130 ARNT VGF NAT16 MUC12 MUC3A MUC17 PCOLCE-AS1 ACHE AP1S1 MUC12-AS1 RF00017-6501
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUC12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUC12

Genomic Locations for MUC12 Gene

Genomic Locations for MUC12 Gene
chr7:100,969,623-101,018,949
(GRCh38/hg38)
Size:
49,327 bases
Orientation:
Plus strand
chr7:100,612,904-100,662,230
(GRCh37/hg19)
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 Asn170, Asn176, Asn154, Asn382, Asn738, Asn1793, Asn3350, Asn4433, Asn4571, Asn5169, Asn5182, 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:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MUC12 Gene

Blocks:
  • SEA domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MUC12 Gene

GenScript: Design optimal peptide antigens:
  • MUC12 protein (A1L198_HUMAN)
  • Mucin-11 (MUC12_HUMAN)

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

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.
GENATLAS Biochemistry:
mucin 12,cell surface glycoprotein,expressed in colon,down-regulated in colorectal cancer,maybe involved in epithelial cell regulation

Phenotypes From GWAS Catalog for MUC12 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUC12

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 4
cytosol 3
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUC12 Gene

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

mRNA/cDNA for MUC12 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUC12

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

No ASD Table

Relevant External Links for MUC12 Gene

GeneLoc Exon Structure for
MUC12

Expression for MUC12 Gene

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



Protein tissue co-expression partners for MUC12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 Crohn's 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 31
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MUC12 31
  • 38 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 32 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MUC12: view image

Paralogs for MUC12 Gene

Paralogs for MUC12 Gene

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

  • MUC12_HUMAN
  • A1L198_HUMAN
  • F5GWV9_HUMAN
  • H7BXN1_HUMAN
  • L8E898_HUMAN
genes like me logo Genes that share paralogs with MUC12: view

Variants for MUC12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUC12 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs200303708 Not Provided: not provided 100,999,174(+) G/A MISSENSE_VARIANT
rs73402837 Benign: not specified 101,004,267(+) G/C MISSENSE_VARIANT
rs79635145 Benign: not specified 101,004,258(+) C/T SYNONYMOUS_VARIANT
rs11766125 - p.Thr4775Arg

Additional dbSNP identifiers (rs#s) for MUC12 Gene

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)

Additional Variant Information for MUC12 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MUC12 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tn polyagglutination syndrome
  • tnps
colorectal cancer
  • crc
colorectal cancer 1
  • colorectal cancer, susceptibility to, 1
ulcerative colitis
  • left-sided ulcerative colitis
colitis
- elite association - COSMIC cancer census association via MalaCards
Search MUC12 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 SJ … Antalis TM (Cancer research 1999) 2 3 4 23 54
  2. Shared expression of mucin12 in Ascaris lumbricoides and the human small intestine. (PMID: 30481538) Hayashi I … Nishiyama T (Molecular and biochemical parasitology 2019) 3 54
  3. Genetic Mutation and Exosome Signature of Human Papilloma Virus Associated Oropharyngeal Cancer. (PMID: 28383029) Kannan A … Dasgupta S (Scientific reports 2017) 3 54
  4. 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 2017) 3 54
  5. Mucins: a biologically relevant glycan barrier in mucosal protection. (PMID: 24821013) Corfield AP (Biochimica et biophysica acta 2015) 3 54

Products for MUC12 Gene

Sources for MUC12 Gene