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    MUC22 mucin 22 [ Homo sapiens (human) ]

    Gene ID: 100507679, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MUC22provided by HGNC
    Official Full Name
    mucin 22provided by HGNC
    Primary source
    HGNC:HGNC:39755
    See related
    Ensembl:ENSG00000261272 MIM:613917; AllianceGenome:HGNC:39755
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PBMUCL1
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward esophagus (RPKM 9.7) See more
    Orthologs
    all
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    Genomic context

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    See MUC22 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31005952..31035402)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30870616..30900408)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30973729..31003179)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:30954612-30955811 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:30960303-30961066 Neighboring gene mucin 21, cell surface associated Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30997211-30997711 Neighboring gene Sharpr-MPRA regulatory region 1306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31021318-31021818 Neighboring gene HLA complex group 22 (non-protein coding) Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31037859-31038823 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31038824-31039787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31047009-31047541 Neighboring gene RNA, U6 small nuclear 1133, pseudogene

    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. Differential MUC22 expression by epigenetic alterations in human lung squamous cell carcinoma and adenocarcinoma. Lin S, et al. Oncol Rep, 2021 May. PMID 33786615, Free PMC Article
    2. MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil. Castelli EC, et al. Front Immunol, 2022. PMID 36389712, Free PMC Article
    3. Polymorphisms of TGFB1, TLE4 and MUC22 are associated with childhood asthma in Chinese population. Chen JB, et al. Allergol Immunopathol (Madr), 2017 Sep-Oct. PMID 28262390
    4. Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis. Hijikata M, et al. Hum Genet, 2011 Feb. PMID 20981447
    5. Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. Nakabayashi K, et al. J Hum Genet, 2011 Nov. PMID 21900946

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil.
      Title: MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil.
    2. Differential MUC22 expression by epigenetic alterations in human lung squamous cell carcinoma and adenocarcinoma.
      Title: Differential MUC22 expression by epigenetic alterations in human lung squamous cell carcinoma and adenocarcinoma.
    3. Genes TGFB1, TLE4 and MUC22 are associated with the risk of childhood asthma in Chinese population.
      Title: Polymorphisms of TGFB1, TLE4 and MUC22 are associated with childhood asthma in Chinese population.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
    5. The mucin-like gene PBMUCL1 is also one of the candidate genes of Diffuse panbronchiolitis susceptibility.
      Title: Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
    EBI GWAS Catalog
    Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.
    EBI GWAS Catalog

    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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    mucin-22
    Names
    panbronchiolitis-related mucin-like protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001198815.1 → NP_001185744.1  mucin-22 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001185744.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AB560770, AL669830
      Consensus CDS
      CCDS59003.1
      UniProtKB/Swiss-Prot
      E2RYF6, H3BQR8
      Conserved Domains (2) summary
      pfam14654
      Location:1646 → 1762
      Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region
      NF033849
      Location:400 → 659
      ser_rich_anae_1; serine-rich protein

    2. NM_001318484.1 → NP_001305413.1  mucin-22 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB600272, AL669830
      UniProtKB/Swiss-Prot
      E2RYF6
      Conserved Domains (1) summary
      pfam14654
      Location:1649 → 1765
      Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region

    3. NM_001322469.1 → NP_001309398.1  mucin-22 isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents an alternate allele located on the reference alternate locI, ALT_REF_LOCI_1 and ALT_REF_LOCI_3.
      Source sequence(s)
      CR759964
      Conserved Domains (1) summary
      pfam14654
      Location:1659 → 1775
      Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region

    4. NM_001395414.1 → NP_001382343.1  mucin-22 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL669830
      Consensus CDS
      CCDS59003.1
      UniProtKB/Swiss-Prot
      E2RYF6, H3BQR8
      Related
      ENSP00000455906.1, ENST00000561890.1
      Conserved Domains (2) summary
      pfam14654
      Location:1646 → 1762
      Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region
      NF033849
      Location:400 → 659
      ser_rich_anae_1; serine-rich protein

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31005952..31035402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2335451..2365243
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2485543..2515096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2262255..2292048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2301918..2345917
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      2350091..2379541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2261560..2291039
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      2306662..2336137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30870616..30900408
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E2RYF6.2 GenPept UniProtKB/Swiss-Prot:E2RYF6

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