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MUC4 Gene

protein-coding   GIFtS: 59
GCID: GC03M195473

Mucin 4, Cell Surface Associated

(Previous names: mucin 4, tracheobronchial)
  See MUC4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mucin 4, Cell Surface Associated1 2     Tracheobronchial Mucin2 3
Mucin 4, Tracheobronchial1 2     ASGP2 3
Ascites Sialoglycoprotein2 3     MUC-42 3
Pancreatic Adenocarcinoma Mucin2 3     HSA2763592
Testis Mucin2 3     mucin-42

External Ids:    HGNC: 75141   Entrez Gene: 45852   Ensembl: ENSG000001451137   OMIM: 1583725   UniProtKB: Q991023   

Export aliases for MUC4 gene to outside databases

Previous GC identifers: GC03P191251 GC03P195544 GC03M196882 GC03M196801 GC03M196963 GC03M192745


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MUC4 Gene:
The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the
trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important
roles in the protection of the epithelial cells and have been implicated in epithelial renewal and
differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted
isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of
them the full-length transcript has not been determined or they are found only in tumor tissues. This gene
contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. (provided
by RefSeq, Jul 2008)

GeneCards Summary for MUC4 Gene:
MUC4 (mucin 4, cell surface associated) is a protein-coding gene. Diseases associated with MUC4 include adenocarcinoma, and limbal stem cell deficiency. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent, lubricant activity. An important paralog of this gene is SUSD2.

UniProtKB/Swiss-Prot: MUC4_HUMAN, Q99102
Function: May play a role in tumor progression. Ability to promote tumor growth may be mainly due to repression of
apoptosis as opposed to proliferation. Has anti-adhesive properties. Seems to alter cellular behavior through
both anti-adhesive effects on cell-cell and cell-extracellular matrix interactions and in its ability to act as
an intramembrane ligand for ERBB2. Plays an important role in cell proliferation and differentiation of
epithelial cells by inducing specific phosphorylation of ERBB2. The MUC4-ERBB2 complex causes site-specific
phosphorylation of the ERBB2 'Tyr-1248'. In polarized epithelilal cells segragates ERBB2 and other ERBB receptors
and prevents ERBB2 from acting as a coreceptor. The interaction with ERBB2 leads to enhanced expression of
CDKN1B. The formation of a MUC4-ERBB2-ERBB3-NRG1 complex leads to down-regulation of CDKN1B, resulting in
repression of apoptosis and stimulation of proliferation

Gene Wiki entry for MUC4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  NT_187532.1  NT_187649.1  NT_187678.1  NT_187688.1  NT_187689.1  
NT_187690.1  NT_187691.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the MUC4 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMUC4 promoter sequence
   Search Chromatin IP Primers for MUC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MUC4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

MUC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUC4 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M195473:  view genomic region     (about GC identifiers)

Start:
195,473,636 bp from pter      End:
195,539,148 bp from pter
Size:
65,513 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MUC4_HUMAN, Q99102 (See protein sequence)
Recommended Name: Mucin-4 precursor  
Size: 2169 amino acids; 231518 Da
Subunit: A heterodimeric complex, composed of a mucin-4 alpha chain and a cysteine-rich transmembrane mucin-4 beta
chain. Mucin-4 beta chain interacts with ERBB2 via the EGF-like domain 1. In nonpolarized cells, associates with
ERBB2 and ERBB3 (By similarity)
Developmental stage: Expressed early in the primitive gut before respiratory and digestive epithelial cells have
acquired their tissue and cell specificity. Expressed at the basal surface of the epithelium from week 14 to 26
weeks and then predominantly localized in only parietal cells. Immediately before birth, found in the cytoplasm
of the mucous columnar epithelial cells. In the embryo expressed in skin, then disappears late in gestation
Miscellaneous: Expression is a very useful predictor of poor prognosis in patients with invasive ductal carcinoma
and intrahepatic cholangiocarcinoma, mass forming type (IDC,ICC-MF). Patients with IDC or ICC-MF who have high
MUC4 expression had a worse survival rate than those with low MUC4 expression
Sequence caution: Sequence=AAA63230.1; Type=Miscellaneous discrepancy; Note=May be derived from an intron
translation; Sequence=CAC14139.1; Type=Frameshift; Positions=1171; Sequence=CAC14141.1; Type=Frameshift;
Positions=1256;
Secondary accessions: O95938 Q9GZM2 Q9GZV6 Q9H481 Q9H482 Q9H483 Q9H484 Q9H485 Q9H486 Q9H487
Q9H4D6 Q9H4D8 Q9NPJ0 Q9NY09 Q9NY75 Q9NY76 Q9NY77 Q9NY78 Q9NY79 Q9NY80 Q9NY81
Alternative splicing: 14 isoforms:  Q99102-1   Q99102-2   Q99102-3   Q99102-5   Q99102-7   Q99102-8   Q99102-9   Q99102-10   
Q99102-11   Q99102-12   Q99102-13   Q99102-15   Q99102-16   Q99102-17   (Dubious isoform produced through aberrant splice sites)

Explore the universe of human proteins at neXtProt for MUC4: NX_Q99102

Explore proteomics data for MUC4 at MOPED

Post-translational modifications: 

  • Proteolytically cleaved into 2 chains, mucin-4 alpha chain and mucin-4 beta chain1
  • mucrnin-4 alpha chain is highly O-glycosylated1
  • mucin-4 beta chain is predominantly N-glycosylated1
  • Glycosylation2 at Thr161, Asn235, Asn260, Ser453, Thr454, Thr458, Ser461, Thr466, Thr467, Asn622,
                                 Asn1472, Asn1525, Asn1544, Asn1553, Asn1588, Asn1609, Asn1632, Asn1659, Asn1685, Asn1703 (see all 29)
  • Modification sites at PhosphoSitePlus

  • See MUC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_004523.3  NP_060876.5  NP_612154.2  

    ENSEMBL proteins: 
     ENSP00000310528   ENSP00000389780   ENSP00000345378   ENSP00000407750   ENSP00000376208  
     ENSP00000338109   ENSP00000304207   ENSP00000419798   ENSP00000417498   ENSP00000417757  
     ENSP00000417722   ENSP00000420243   ENSP00000419989   ENSP00000417657   ENSP00000420439  
     ENSP00000417397   ENSP00000418306  
    Reactome Protein details: Q99102

    MUC4 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MUC: Mucins

    4 InterPro protein domains:
     IPR005533 AMOP
     IPR000742 EG-like_dom
     IPR003886 Nidogen_extracell_dom
     IPR001846 VWF_type-D

    Graphical View of Domain Structure for InterPro Entry Q99102

    ProtoNet protein and cluster: Q99102

    UniProtKB/Swiss-Prot: MUC4_HUMAN, Q99102
    Similarity: Contains 1 AMOP domain
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 1 NIDO domain
    Similarity: Contains 1 VWFD domain


    Find genes that share domains with MUC4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MUC4_HUMAN, Q99102
    Function: May play a role in tumor progression. Ability to promote tumor growth may be mainly due to repression of
    apoptosis as opposed to proliferation. Has anti-adhesive properties. Seems to alter cellular behavior through
    both anti-adhesive effects on cell-cell and cell-extracellular matrix interactions and in its ability to act as
    an intramembrane ligand for ERBB2. Plays an important role in cell proliferation and differentiation of
    epithelial cells by inducing specific phosphorylation of ERBB2. The MUC4-ERBB2 complex causes site-specific
    phosphorylation of the ERBB2 'Tyr-1248'. In polarized epithelilal cells segragates ERBB2 and other ERBB receptors
    and prevents ERBB2 from acting as a coreceptor. The interaction with ERBB2 leads to enhanced expression of
    CDKN1B. The formation of a MUC4-ERBB2-ERBB3-NRG1 complex leads to down-regulation of CDKN1B, resulting in
    repression of apoptosis and stimulation of proliferation

         Genatlas biochemistry entry for MUC4:
    mucin 4,homolog of rat sialomucin,tracheobronchial,involved in intestinal epithelial cell
    differentiation,expressed in ovarian epithelial cancer,decreasing with increased cancer stage,ligand for Erb2 in
    cell signaling

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005176ErbB-2 class receptor binding TAS10024507
    GO:0005201extracellular matrix structural constituent ----
    GO:0005515protein binding ----
    GO:0030197extracellular matrix constituent, lubricant activity NAS10920259
         
    Find genes that share ontologies with MUC4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MUC4:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MUC4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MUC4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MUC4

    miRNA
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    miRTarBase miRNAs that target MUC4:
    hsa-mir-335-5p (MIRT017552)

    Block miRNA regulation of human, mouse, rat MUC4 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MUC4:
    hsa-miR-3185 hsa-miR-3121-3p
    SwitchGear 3'UTR luciferase reporter plasmidMUC4 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): MUC4 (NM_004532)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MUC4_HUMAN, Q99102: Membrane; Single-pass membrane protein (Potential). Secreted. Note=Isoforms lacking the
    Cys-rich region, EGF-like domains and transmembrane region are secreted. Secretion occurs by splicing or
    proteolytic processing
    MUC4_HUMAN, Q99102: Mucin-4 beta chain: Cell membrane; Single-pass membrane protein
    MUC4_HUMAN, Q99102: Mucin-4 alpha chain: Secreted
    MUC4_HUMAN, Q99102: Isoform 3: Cell membrane; Single-pass membrane protein
    MUC4_HUMAN, Q99102: Isoform 11: Secreted
    MUC4_HUMAN, Q99102: Isoform 15: Secreted
    MUC4_HUMAN, Q99102: Isoform 17: Cell membrane; Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    golgi apparatus4
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix NAS10920259
    GO:0005796Golgi lumen TAS--
    GO:0005887integral component of plasma membrane TAS10024507
    GO:0016020membrane NAS10920259
    GO:0070062extracellular vesicular exosome IDA19199708

    Find genes that share ontologies with MUC4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MUC4 About    
    See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47
    Termination of O-glycan biosynthesis0.38
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30


    Find genes that share SuperPaths with MUC4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for MUC4
        O-linked glycosylation of mucins
    Termination of O-glycan biosynthesis


        Pathway & Disease-focused RT2 Profiler PCR Array including MUC4: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MUC4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MUC4 (Q991023 ENSP000003042074) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046263, ENSP000002695714I2D: score=1 STRING: ENSP00000269571
    GALNT11Q8NCW63, ENSP000003158354I2D: score=1 STRING: ENSP00000315835
    SHC1P293533I2D: score=2 
    TOLLIPQ9H0E23I2D: score=2 
    B3GNT3ENSP000003218744STRING: ENSP00000321874
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007160cell-matrix adhesion IEA--
    GO:0008150biological_process ND--
    GO:0016266O-glycan processing TAS--
    GO:0030277maintenance of gastrointestinal epithelium IMP17058067
    GO:0043687post-translational protein modification TAS--

    Find genes that share ontologies with MUC4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MUC4

    Selected Novoseek inferred chemical compound relationships for MUC4 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 32.7 28 10938282 (5), 16007204 (4), 14691162 (3), 11246122 (1) (see all 9)
    tyrosine 20.6 10 18381409 (1), 17126950 (1), 19293191 (1), 16857800 (1) (see all 7)
    trastuzumab 11.6 7 15695389 (2), 16683005 (1)
    progesterone 10.1 12 12823988 (4), 8554551 (1), 16807280 (1), 19899128 (1)
    oligonucleotide 9.59 1 8604237 (1)
    phosphatidylinositol 5.57 3 16690615 (1), 14583090 (1)
    cholesterol 5.26 4 12517055 (3)
    calcium 3.55 2 12517055 (2)
    matrigel 3.15 1 15672420 (1)
    steroid 0 3 16807280 (1), 17891050 (1)



    Find genes that share compounds with MUC4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MUC4 gene (5 alternative transcripts): 
    NM_004532.5  NM_018406.6  NM_138297.4  NM_138298.1  NM_138299.1  

    Unigene Cluster for MUC4:

    Mucin 4, cell surface associated
    Hs.369646  [show with all ESTs]
    Unigene Representative Sequence: NM_018406
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000308466(uc003fuz.3) ENST00000448861(uc003fvd.3) ENST00000339251
    ENST00000415455 ENST00000392407 ENST00000349607 ENST00000346145 ENST00000478156(uc003fvc.3 uc010hzr.3 uc021xjh.1)
    ENST00000463781(uc003fva.3 uc003fvb.3 uc003fve.3 uc021xjg.1 uc021xji.1 uc021xjj.1 uc021xjk.1 uc021xjl.1 uc021xjm.1 uc021xjn.1 uc021xjo.1 uc021xjp.1 uc003fvo.3 uc003fvp.3)
    ENST00000479406 ENST00000466475 ENST00000475231 ENST00000477086 ENST00000480843
    ENST00000470451 ENST00000462323 ENST00000477756 ENST00000464234(uc010hzq.3)

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    Additional mRNA sequence: 

    AF058803.1 AF058804.1 AF177925.1 AJ000281.1 AJ010901.1 AJ242541.1 AJ242542.1 AJ242543.1 
    AJ242544.1 AJ242545.1 AJ242546.1 AJ242547.1 AJ242548.1 AJ242549.1 AJ242550.1 AJ276359.1 
    AJ277412.1 AJ400858.1 AK074437.1 AK307054.1 BC131770.1 EF091824.1 M64594.1 

    Selected DOTS entries (see all 42):

    DT.91758822  DT.100787919  DT.92445406  DT.92445399  DT.97803505  DT.405187  DT.92445416  DT.40274454 
    DT.91649767  DT.95093794  DT.92445402  DT.95107871  DT.92036627  DT.100787925  DT.92445418  DT.95121081 
    DT.95153962  DT.95278149  DT.100787922  DT.120927567  DT.120927650  DT.92445404  DT.95278152  DT.92445420 

    Selected AceView cDNA sequences (see all 86):

    AF058804 AF058803 AJ242543 NM_004532 AK074437 AJ242550 AJ277505 BF354487 
    AJ242541 AJ242542 AK127293 BF370453 AJ242544 AJ000281 BF354478 AJ242549 
    NM_138297 AJ242545 BF354489 AI824870 BI014506 BF354481 AW515653 AW594131 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MUC4 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:              -           -                       -           -                                                                                             
    SP2:              -     -     -                       -           -                                                                                             
    SP3:                          -           -           -           -           -                                                                                 
    SP4:                                                              -                                                                                         -   
    SP5:                          -                       -           -                                                                                         -   

    ExUns: 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27
    SP1:              -                       -     -               
    SP2:              -                       -     -               
    SP3:              -                       -     -               
    SP4:              -                       -     -               
    SP5:              -                       -     -               


    ECgene alternative splicing isoforms for MUC4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MUC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MUC4 Expression
    About this image

    MUC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MUC4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369646

    UniProtKB/Swiss-Prot: MUC4_HUMAN, Q99102
    Tissue specificity: Expressed in the thymus, thyroid, lung, trachea, esophagus, stomach, small intestine, colon,
    testis, prostate, ovary, uterus, placenta, and mammary and salivary glands. Expressed in carcinomas arising from
    some of these epithelia, such as lung cancers, squamous cell carcinomas of the upper aerodigestive tract, mammary
    carcinomas, biliary tract, colon, and cervix cancers. Minimally or not expressed in the normal pancreas or
    chronic pancreatitis, but is highly expressed in pancreatic tumors and pancreatic tumor cell lines

        Pathway & Disease-focused RT2 Profiler PCR Array including MUC4: 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUC4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MUC4 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Muc45 mucin 4   --   16 (23.30 cM) 32735886 
    chicken
    (Gallus gallus)
    Aves MUC46
    mucin 4, cell surface associated
    11(a)
    1 ↔ 1
    9(14463390-14478700)
    lizard
    (Anolis carolinensis)
    Reptilia MUC46
    mucin 4, cell surface associated
    27(a)
    1 ↔ 1
    GL343433.1(112703-138343)
    zebrafish
    (Danio rerio)
    Actinopterygii MUC46
    mucin 4, cell surface associated
    22(a)
    1 ↔ 1
    13(8174790-8180982) ENSDARG00000087190
    fruit fly
    (Drosophila melanogaster)
    Insecta CG310046
    --
    11(a)
    1 → many
    3R(27004111-27021484)
    worm
    (Caenorhabditis elegans)
    Secernentea R09E10.56
    F54D1.66
    (see all 3)
    Protein F54D1.6 (F54D1.6) mRNA, complete cds
    (see all 3)
    9(a)
    8(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(10296087-10302310) WBGene00011175
    IV(11287811-11294913) WBGene00010047


    ENSEMBL Gene Tree for MUC4 (if available)
    TreeFam Gene Tree for MUC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MUC4 gene
    SUSD22  
    1 SIMAP similar gene for MUC4 using alignment to 17 protein entries:     MUC4_HUMAN (see all proteins):
    MUC12

    Find genes that share paralogs with MUC4           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MUC4
    PGOHUM00000243578


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MUC4 (see all 3506)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs630724601,2
    C--192812830(+) TACTC-/GGGG  
      GGCTGA
    GGCAC
    2 -- int11Minor allele frequency- GGGGGGCTGA:0.00CSA 2
    rs1399867461,2
    --195473279(+) ATTGAC/TCCTTT 3 -- ds50010--------
    rs7120071,2
    C,F,A,H--195473288(+) TTTACG/AACTTT 3 -- ds50017Minor allele frequency- A:0.44NA WA CSA 18
    rs98238661,2
    C,F,A--195473364(+) GGGTAT/ACTCTT 3 -- ds50016Minor allele frequency- A:0.26WA NA CSA 246
    rs1447053071,2
    --195473375(+) TCGCTC/GTCCTC 3 -- ds50010--------
    rs732039771,2
    C,F--195473391(+) CGGGCG/AAAGCT 3 -- ds50015Minor allele frequency- A:0.11WA NA CSA 244
    rs21132261,2
    C,F,A,H--195473489(+) GTAACC/GGGGCT 3 -- ds500114Minor allele frequency- G:0.39NS NA WA CSA EA 500
    rs1928633021,2
    --195473490(+) TAACCA/GGGCTG 3 -- ds50010--------
    rs1485027921,2
    --195473507(+) ACTGGA/TTCCAG 3 -- ds50010--------
    rs1848252591,2
    --195473518(+) CTGCCC/TCTAAT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for MUC4 (195473636 - 195539148 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MUC4 (see all 81):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726510CNV Deletion23290073
    esv2726508CNV Deletion23290073
    esv2726509CNV Deletion23290073
    esv2726497CNV Deletion23290073
    esv2726493CNV Deletion23290073
    esv988433CNV Deletion20482838
    esv2726503CNV Deletion23290073
    dgv905e199CNV Deletion23128226
    esv2726492CNV Deletion23290073
    nsv821422CNV Deletion20802225

    Human Gene Mutation Database (HGMD): MUC4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MUC4
    DNA2.0 Custom Variant and Variant Library Synthesis for MUC4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 158372    OMIM disorders: --

    4 diseases for MUC4:    
    About MalaCards
    adenocarcinoma    limbal stem cell deficiency    cholangiocarcinoma    pancreatic cancer

    3 diseases from the University of Copenhagen DISEASES database for MUC4:
    Pancreatic cancer     Carcinoma     Cystic fibrosis

    Find genes that share disorders with MUC4           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MUC4 gene (see all 53)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenocarcinoma 62.4 58 17425390 (4), 12657964 (3), 11751498 (3), 16880135 (3) (see all 27)
    pancreatic cancer 58.8 57 16274046 (7), 20423995 (6), 15461591 (4), 17595659 (4) (see all 17)
    metaplasia 56.3 11 17090193 (2), 10738241 (2), 11093805 (1), 19946103 (1) (see all 6)
    pancreatic tumor 53.1 19 17032197 (4), 8157358 (3), 10920259 (2), 10938282 (2) (see all 7)
    biliary tract cancer 46 1 18475301 (1)
    epithelial tumor 42 1 18492726 (1)
    chronic pancreatitis 41.3 9 11751498 (3), 16274046 (2), 17425384 (2), 14760381 (1)
    dry eye syndromes 40.7 1 15678360 (1)
    pancreatic carcinoma 40.3 1 10938282 (1)
    carcinoma 40.1 20 19127263 (2), 11596032 (2), 17595659 (1), 16857800 (1) (see all 11)

    Genetic Association Database (GAD): MUC4
    Human Genome Epidemiology (HuGE) Navigator: MUC4 (7 documents)

    Export disorders for MUC4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MUC4 gene, integrated from 10 sources (see all 292):
    (articles sorted by number of sources associating them with MUC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and chromosomal localization of a novel human tracheo-bronchial mucin cDNA containing tandemly repeated sequences of 48 base pairs. (PubMed id 1673336)1, 2, 3 Porchet N.... Aubert J.-P. (Biochem. Biophys. Res. Commun. 1991)
    2. MUC4 expression is a novel prognostic factor in patients with invasive ductal carcinoma of the pancreas. (PubMed id 16049287)1, 2, 9 Saitou M.... Yonezawa S. (J. Clin. Pathol. 2005)
    3. MUC4 expression and its relation to ErbB2 expression, apoptosis, proliferation, differentiation, and tumor stage in non-small cell lung cancer (NSCLC). (PubMed id 16814944)1, 2, 9 Karg A.... Ucvet A. (Pathol. Res. Pract. 2006)
    4. MUC4 gene polymorphism and expression in women with implantation failure. (PubMed id 16807280)1, 4, 9 Koscinski I....Buisine M.P. (Hum. Reprod. 2006)
    5. MUC4 expression and localization in gastrointestinal tract and skin of human embryos. (PubMed id 16914178)1, 2, 9 Zhang J.... Carraway K.L. (Tissue Cell 2006)
    6. Human MUC4 mucin cDNA and its variants in pancreatic carcinoma. (PubMed id 10920259)1, 2, 9 Choudhury A.... Batra S.K. (J. Biochem. 2000)
    7. Alternative splicing generates a family of putative secreted and membrane-associated MUC4 mucins. (PubMed id 10880978)1, 2, 9 Moniaux N....Aubert J.-P. (Eur. J. Biochem. 2000)
    8. Complete sequence of the human mucin MUC4: a putative cell membrane- associated mucin. (PubMed id 10024507)1, 2, 9 Moniaux N.... Aubert J.-P. (Biochem. J. 1999)
    9. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PubMed id 20503287)1, 4 Schuurhof A....Janssen R. (Pediatr. Pulmonol. 2010)
    10. Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes. (PubMed id 19258923)1, 4 Siezen C.L....Janssen R. (Pediatr. Infect. Dis. J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4585 HGNC: 7514 AceView: MUC4 Ensembl:ENSG00000145113 euGenes: HUgn4585
    ECgene: MUC4 H-InvDB: MUC4

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MUC4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MUC4 Genetics and Cytogenetics in Oncology and Haematology
    Mucin databasehttp://www.medkem.gu.se/mucinbiology/databases/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MUC4 gene:
    Search GeneIP for patents involving MUC4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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