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

    Gene ID: 4585, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001322468.1NP_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:65596674
      AMOP; Adhesion-associated domain present in MUC4 and other proteins
      smart00216
      Location:66796859
      VWD; von Willebrand factor (vWF) type D domain
      smart00539
      Location:64036560
      NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
    2. NM_004532.6NP_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:437617
      VWD; von Willebrand factor (vWF) type D domain
      smart00539
      Location:161318
      NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
      cl02758
      Location:317432
      AMOP; AMOP domain
    3. NM_018406.7NP_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:45534668
      AMOP; Adhesion-associated domain present in MUC4 and other proteins
      PRK12799
      Location:17151855
      motB; flagellar motor protein MotB; Reviewed
      smart00216
      Location:46734853
      VWD; von Willebrand factor (vWF) type D domain
      smart00539
      Location:43974554
      NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
      NF033849
      Location:18322177
      ser_rich_anae_1; serine-rich protein
    4. NM_138297.5NP_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:386566
      VWD; von Willebrand factor (vWF) type D domain
      smart00539
      Location:110267
      NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
      cl02758
      Location:266381
      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.