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MUC21 mucin 21, cell surface associated [ Homo sapiens (human) ]

Gene ID: 394263, updated on 8-Jul-2021

Summary

Official Symbol
MUC21provided by HGNC
Official Full Name
mucin 21, cell surface associatedprovided by HGNC
Primary source
HGNC:HGNC:21661
See related
Ensembl:ENSG00000204544 MIM:616991
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-21; KMQK697; C6orf205
Summary
This gene encodes a large membrane-bound glycoprotein which is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. The encoded protein contains an N-terminal signal sequence, an extracellular mucin domain, a stem domain, a transmembrane domain, and a C-terminal cytoplasmic tail domain. The mucin domain contains O-glycosylation sites and is polymorphic with isoforms containing a variable number of nonidentical proline-, threonine-, and serine-rich tandem repeats of 15 amino acids each. The aberrent expression of this gene is associated with lung adenocarcinoma. [provided by RefSeq, May 2017]
Expression
Restricted expression toward esophagus (RPKM 485.6) See more
Orthologs
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Genomic context

See MUC21 in Genome Data Viewer
Location:
6p21.33
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (30983718..30989903)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30951495..30957680)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene mucin like 3 Neighboring gene HLA complex group 21 Neighboring gene N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 2 Neighboring gene mucin 22 Neighboring gene HLA complex group 22 (gene/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
A genome-wide association study identifies two new risk loci for Graves' disease.
GeneReviews: Not available
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
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
GeneReviews: Not available
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
GeneReviews: Not available
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
GeneReviews: Not available
Multiple loci are associated with white blood cell phenotypes.
GeneReviews: Not available

General gene information

Markers

Homology

Clone Names

  • MGC125609

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in negative regulation of cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

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.

Genomic

  1. NG_054937.1 RefSeqGene

    Range
    5011..11196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001010909.5NP_001010909.2  mucin-21 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001010909.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes isoform (1).
    Source sequence(s)
    AK298642, AL669830, BC105735, BC105737, DA763771, DC373882
    Consensus CDS
    CCDS34388.1
    UniProtKB/Swiss-Prot
    Q5SSG8
    Related
    ENSP00000365473.3, ENST00000376296.3
    Conserved Domains (2) summary
    pfam05647
    Location:3297
    Epiglycanin_TR; Tandem-repeating region of mucin, epiglycanin-like
    pfam14654
    Location:464562
    Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region
  2. NM_001322370.2NP_001309299.1  mucin-21 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents an alternate allele located on the reference alternate locus, ALT_REF_LOCI_4.The encoded isoform (2) is longer than isoform (1).
    Source sequence(s)
    AL669830, AY358415
    UniProtKB/Swiss-Prot
    Q5SSG8
    UniProtKB/TrEMBL
    A0A0G2JKD1
    Conserved Domains (2) summary
    pfam05647
    Location:122177
    Epiglycanin_TR; Tandem-repeating region of mucin, epiglycanin-like
    pfam14654
    Location:494592
    Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region
  3. NM_001322371.2NP_001309300.2  mucin-21 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents an alternate allele located on the reference alternate locus, ALT_REF_LOCI_6. The encoded isoform (3) is longer than isoform (1).
    Source sequence(s)
    AK299471, AL669830
    Conserved Domains (2) summary
    pfam05647
    Location:122177
    Epiglycanin_TR; Tandem-repeating region of mucin, epiglycanin-like
    pfam14654
    Location:524622
    Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region

RNA

  1. NR_130720.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK298642, AL669830, BC105735, BC105736, DA763771, DC373882

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
    30983718..30989903
    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
    2313208..2319398
    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
    2463279..2469484
    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
    2240011..2246201
    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
    2293951..2300241
    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
    2327846..2334046
    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
    2238874..2245269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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