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    MUC4 mucin 4, cell surface associated [ Homo sapiens (human) ]

    Gene ID: 4585, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MUC4provided by HGNC
    Official Full Name
    mucin 4, cell surface associatedprovided by HGNC
    Primary source
    HGNC:HGNC:7514
    See related
    Ensembl:ENSG00000145113 MIM:158372; AllianceGenome:HGNC:7514
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASGP; MUC-4; HSA276359
    Summary
    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]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Biased expression in colon (RPKM 10.3), esophagus (RPKM 2.1) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MUC4 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (195746771..195811929, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (198546126..198620098)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (195473642..195538800, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MIR570 host gene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:195431923-195432494 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195437307-195437978 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195437979-195438649 Neighboring gene somatomedin B domain containing 1, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195453109-195453610 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195461991-195462491 Neighboring gene mucin 20, cell surface associated Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195466177-195466985 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:195474413-195474579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195489021-195489522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195495435-195495936 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:195505212-195506411 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195508163-195508662 Neighboring gene Sharpr-MPRA regulatory region 430 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195533677-195534240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195535933-195536496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195536497-195537060 Neighboring gene vegetative cell wall protein gp1-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195543301-195544106 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:195547535-195548734 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr3:195550530-195551217 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_67540 and experimental_67545 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_67549, experimental_67550 and experimental_67551 Neighboring gene MPRA-validated peak4987 silencer Neighboring gene uncharacterized LOC107984010 Neighboring gene long intergenic non-protein coding RNA 1983 Neighboring gene kinesin family member 3A pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MUC4 gene polymorphism and expression in women with implantation failure. Koscinski I, et al. Hum Reprod, 2006 Sep. PMID 16807280
    2. Deregulation of MUC4 in gastric adenocarcinoma: potential pathobiological implication in poorly differentiated non-signet ring cell type gastric cancer. Senapati S, et al. Br J Cancer, 2008 Sep 16. PMID 18781152, Free PMC Article
    3. MUC4 activates HER2 signalling and enhances the motility of human ovarian cancer cells. Ponnusamy MP, et al. Br J Cancer, 2008 Aug 5. PMID 18665193, Free PMC Article
    4. Epigenetic regulation of the human mucin gene MUC4 in epithelial cancer cell lines involves both DNA methylation and histone modifications mediated by DNA methyltransferases and histone deacetylases. Vincent A, et al. FASEB J, 2008 Aug. PMID 18492726
    5. Reduced MUC4 expression is a late event in breast carcinogenesis and is correlated with increased infiltration of immune cells as well as promoter hypermethylation in invasive breast carcinoma. Cho JS, et al. Appl Immunohistochem Mol Morphol, 2015 Jan. PMID 24992172

    See all (203) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel fatty acid metabolism-related signature identifies MUC4 as a novel therapy target for esophageal squamous cell carcinoma.
      Title: A novel fatty acid metabolism-related signature identifies MUC4 as a novel therapy target for esophageal squamous cell carcinoma.
    2. TRPV4 activation in human corneal epithelial cells promotes membrane mucin production.
      Title: TRPV4 activation in human corneal epithelial cells promotes membrane mucin production.
    3. Circadian disruption reduces MUC4 expression via the clock molecule BMAL1 during dry eye development.
      Title: Circadian disruption reduces MUC4 expression via the clock molecule BMAL1 during dry eye development.
    4. [Role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria].
      Title: [Role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria].
    5. LncRNA BBOX1-AS1 Contributes to the Development of Nasopharyngeal Carcinoma via miR-204-5p/MUC4 Axis.
      Title: LncRNA BBOX1-AS1 Contributes to the Development of Nasopharyngeal Carcinoma via miR-204-5p/MUC4 Axis.
    6. Genetic variants of MUC4 are associated with susceptibility to and mortality of colorectal cancer and exhibit synergistic effects with LDL-C levels.
      Title: Genetic variants of MUC4 are associated with susceptibility to and mortality of colorectal cancer and exhibit synergistic effects with LDL-C levels.
    7. Mucin 4 Confers Gemcitabine Resistance and an Unfavorable Prognosis in Patients with Cholangiocarcinoma via AKT Activation.
      Title: Mucin 4 Confers Gemcitabine Resistance and an Unfavorable Prognosis in Patients with Cholangiocarcinoma via AKT Activation.
    8. Mucin 4 protein is expressed in B-acute lymphoblastic leukemia and is restricted to BCR::ABL1-positive and BCR::ABL-like subtypes.
      Title: Mucin 4 protein is expressed in B-acute lymphoblastic leukemia and is restricted to BCR::ABL1-positive and BCR::ABL-like subtypes.
    9. Association Study between Mucin 4 (MUC4) Polymorphisms and Idiopathic Recurrent Pregnancy Loss in a Korean Population.
      Title: Association Study between Mucin 4 (MUC4) Polymorphisms and Idiopathic Recurrent Pregnancy Loss in a Korean Population.
    10. MUC4 expression by immunohistochemistry is a specific marker for BCR-ABL1+ and BCR-ABL1-like B-lymphoblastic leukemia.
      Title: MUC4 expression by immunohistochemistry is a specific marker for BCR-ABL1+ and BCR-ABL1-like B-lymphoblastic leukemia.
    Submit: New GeneRIF Correction See all GeneRIFs (178)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ErbB-2 class receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables extracellular matrix constituent, lubricant activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maintenance of gastrointestinal epithelium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in vesicle HDA PubMed 

    General protein information

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    Preferred Names
    mucin-4
    Names
    ascites sialoglycoprotein
    mucin 4, tracheobronchial
    pancreatic adenocarcinoma mucin
    testis mucin
    tracheobronchial mucin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053117.1 RefSeqGene

      Range
      5045..70203
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001322468.1 → NP_001309397.1  mucin-4 isoform f precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents an alternate allele with a longer tandem repeat region, compared to variant 1. The encoded isoform (f) has a longer variable length region than isoform a.
      Source sequence(s)
      AC069513, AC233280, AC239646
      UniProtKB/TrEMBL
      A0A0G2JS65
      Conserved Domains (3) summary
      smart00723
      Location:6559 → 6674
      AMOP; Adhesion-associated domain present in MUC4 and other proteins
      smart00216
      Location:6679 → 6859
      VWD; von Willebrand factor (vWF) type D domain
      smart00539
      Location:6403 → 6560
      NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins

    2. NM_004532.6 → NP_004523.3  mucin-4 isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), also called MUC4/Y, lacks coding exon 2 as compared to transcript variant 1. As a result, variant 4 encodes isoform d, which has the same N- and C-termini as isoform a encoded by variant 1. Isoform d, thought to be a membrane-bound protein, lacks the variable length, highly glycosylated region found in isoform a.
      Source sequence(s)
      AC233280, AJ242549, AK307054, AW190850, BC131770, DB227644, EF091824
      Consensus CDS
      CCDS3310.1
      UniProtKB/TrEMBL
      A0A0G2JSC3
      Related
      ENSP00000304207.6, ENST00000346145.8
      Conserved Domains (3) summary
      smart00216
      Location:437 → 617
      VWD; von Willebrand factor (vWF) type D domain
      smart00539
      Location:161 → 318
      NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
      cl02758
      Location:317 → 432
      AMOP; AMOP domain

    3. NM_018406.7 → NP_060876.5  mucin-4 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also called sv0, represents the reference genome allele and encodes isoform (a). Isoform a is thought to be a membrane-bound protein.
      Source sequence(s)
      AC069513, AC233280, AJ242550
      Consensus CDS
      CCDS54700.1
      UniProtKB/Swiss-Prot
      O95938, Q99102, Q9GZM2, Q9GZV6, Q9H481, Q9H482, Q9H483, Q9H484, Q9H485, Q9H486, Q9H487, Q9H4D6, Q9H4D8, Q9NPJ0, Q9NY09, Q9NY75, Q9NY76, Q9NY77, Q9NY78, Q9NY79, Q9NY80, Q9NY81
      UniProtKB/TrEMBL
      A0A0G2JNM3, E9PDY6
      Related
      ENSP00000417498.3, ENST00000463781.8
      Conserved Domains (5) summary
      smart00723
      Location:4553 → 4668
      AMOP; Adhesion-associated domain present in MUC4 and other proteins
      PRK12799
      Location:1715 → 1855
      motB; flagellar motor protein MotB; Reviewed
      smart00216
      Location:4673 → 4853
      VWD; von Willebrand factor (vWF) type D domain
      smart00539
      Location:4397 → 4554
      NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
      NF033849
      Location:1832 → 2177
      ser_rich_anae_1; serine-rich protein

    4. NM_138297.5 → NP_612154.2  mucin-4 isoform e precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), also called MUC4/X, lacks coding exons 2 and 3 as compared to transcript variant 1. As a result, variant 5 encodes isoform e, which has the same N- and C-termini as isoform a encoded by variant 1. Isoform e, thought to be a membrane-bound protein, lacks the variable length, highly glycosylated region found in isoform a.
      Source sequence(s)
      AC233280, AJ242550, AK307054, AW190850, BC131770, DB227644, EF091824
      Consensus CDS
      CCDS3311.1
      UniProtKB/TrEMBL
      A0A0G2JRU8
      Related
      ENSP00000338109.4, ENST00000349607.8
      Conserved Domains (3) summary
      smart00216
      Location:386 → 566
      VWD; von Willebrand factor (vWF) type D domain
      smart00539
      Location:110 → 267
      NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
      cl02758
      Location:266 → 381
      AMOP; AMOP domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      195746771..195811929 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187532.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      117262..189793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187649.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3208..47965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_187678.1 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      3208..49264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_187688.1 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      3208..47963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_187689.1 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      117268..181788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_187690.1 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      3208..47963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_187691.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      3208..47965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      198546126..198620098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138298.1: Suppressed sequence

      Description
      NM_138298.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_138299.1: Suppressed sequence

      Description
      NM_138299.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99102.5 GenPept UniProtKB/Swiss-Prot:Q99102

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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