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    MUC6 mucin 6, oligomeric mucus/gel-forming (gene/pseudogene) [ Homo sapiens (human) ]

    Gene ID: 4588, updated on 3-Dec-2024

    Summary

    Official Symbol
    MUC6provided by HGNC
    Official Full Name
    mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:7517
    See related
    Ensembl:ENSG00000184956 MIM:158374; AllianceGenome:HGNC:7517
    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
    MUC-6
    Summary
    This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [provided by RefSeq, Dec 2016]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Biased expression in stomach (RPKM 174.6) and duodenum (RPKM 41.3) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MUC6 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1012823..1036718, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1071738..1106614, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1012823..1036718, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene extensin-like Neighboring gene chitinase domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:889730-890249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:891289-891806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:891807-892326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:893960-894462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:897610-898120 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:903420-903590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3048 Neighboring gene Sharpr-MPRA regulatory region 4982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:920183-920682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3049 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:937789-938701 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:940609-941519 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:942997-943671 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:944346-945020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:945021-945694 Neighboring gene adaptor related protein complex 2 subunit alpha 2 Neighboring gene Sharpr-MPRA regulatory region 620 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:953983-954591 Neighboring gene RNA, U6 small nuclear 1025, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:954699-955362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:955363-956024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:969867-970368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:970369-970868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:994284-994808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1042897-1043398 Neighboring gene uncharacterized LOC124902605 Neighboring gene long intergenic non-protein coding RNA 2688 Neighboring gene uncharacterized LOC107987157 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:1060443-1061642

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in maintenance of gastrointestinal epithelium NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    mucin-6
    Names
    gastric mucin-6

    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_052845.1 RefSeqGene

      Range
      4989..28884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005961.3NP_005952.2  mucin-6 precursor

      See identical proteins and their annotated locations for NP_005952.2

      Status: REVIEWED

      Source sequence(s)
      AC139749
      Consensus CDS
      CCDS44513.1
      UniProtKB/Swiss-Prot
      O15329, Q14394, Q2TUQ5, Q4L207, Q6W4X9, Q8N8I1, Q8NAK1
      Related
      ENSP00000406861.2, ENST00000421673.7
      Conserved Domains (8) summary
      PHA03255
      Location:21882343
      PHA03255; BDLF3; Provisional
      smart00041
      Location:23512434
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00215
      Location:359403
      VWC_out; von Willebrand factor (vWF) type C domain
      smart00216
      Location:386549
      VWD; von Willebrand factor (vWF) type D domain
      pfam00094
      Location:8681017
      VWD; von Willebrand factor type D domain
      pfam01826
      Location:302357
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:10571127
      C8; C8 domain
      cl17735
      Location:829886
      VWC; von Willebrand factor type C 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      1012823..1036718 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_015148966.2 Reference GRCh38.p14 PATCHES

      Range
      278..33471 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331976.1XP_054187951.1  mucin-6 isoform X1

      UniProtKB/TrEMBL
      A0A3Q8TMU7
    2. XM_054331977.1XP_054187952.1  mucin-6 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187656.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      75566..106295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329983.1XP_054185958.1  mucin-6 isoform X3

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_187681.1 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      82414..111124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330448.1XP_054186423.1  mucin-6 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      1071738..1106614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368850.1XP_054224825.1  mucin-6 isoform X5

      UniProtKB/TrEMBL
      A0A3Q8TMU7
    2. XM_054368851.1XP_054224826.1  mucin-6 isoform X6