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MUC22 mucin 22 [ Homo sapiens (human) ]

Gene ID: 100507679, updated on 2-Jul-2021

Summary

Official Symbol
MUC22provided by HGNC
Official Full Name
mucin 22provided by HGNC
Primary source
HGNC:HGNC:39755
See related
Ensembl:ENSG00000261272 MIM:613917
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
Expression
Restricted expression toward esophagus (RPKM 9.7) See more
Orthologs
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Genomic context

See MUC22 in Genome Data Viewer
Location:
6p21.33
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31005952..31035402)
105.20201022 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 mucin 21, cell surface associated Neighboring gene HLA complex group 22 (gene/pseudogene) Neighboring gene RNA, U6 small nuclear 1133, pseudogene

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?

Phenotypes

Associated conditions

Description Tests
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.
GeneReviews: Not available
Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.
GeneReviews: Not available

General protein information

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_001198815.1NP_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
    Related
    ENSP00000455906.1, ENST00000561890.1
    Conserved Domains (1) summary
    pfam14654
    Location:16461762
    Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region
  2. NM_001318484.1NP_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:16491765
    Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region
  3. NM_001322469.1NP_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:16591775
    Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region
  4. NM_001395414.1NP_001382343.1  mucin-22 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AL669830

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

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

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

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

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

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

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

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

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

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

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

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