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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 Variation Viewer (GRCh37.p13)

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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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

Gene LinkOut

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