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

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; AllianceGenome:HGNC:21661
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: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (30983718..30989903)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (30848372..30854562)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (30951495..30957680)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A CRISPR activation screen identifies MUC-21 as critical for resistance to NK and T cell-mediated cytotoxicity.
Title: A CRISPR activation screen identifies MUC-21 as critical for resistance to NK and T cell-mediated cytotoxicity.
MUC21 controls melanoma progression via regulating SLITRK5 and hedgehog signaling pathway.
Title: MUC21 controls melanoma progression via regulating SLITRK5 and hedgehog signaling pathway.
MUC21 proteins with a specific glycosylation status may be involved in the progression of EGFR-mutated lung adenocarcinomas, particularly at the stage where tumors are transforming from pure lepidic to micropapillary through low papillary lepidic lesions.
Title: Specific expression of MUC21 in micropapillary elements of lung adenocarcinomas - Implications for the progression of EGFR-mutated lung adenocarcinomas.
MUC21 could be used as an additional, novel, negative immunohistochemical marker to differentiate mesothelioma from lung adenocarcinoma.
Title: Mucin 21 is a novel, negative immunohistochemical marker for epithelioid mesothelioma for its differentiation from lung adenocarcinoma.
CC genotype of rs886403 in MUC21 is associated with recurrence in colorectal cancer.
Title: Polymorphisms in microRNA binding sites of mucin genes as predictors of clinical outcome in colorectal cancer patients.
MUC21 is significantly upregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
Mucin 21/epiglycanin modulates cell adhesion
Title: Mucin 21/epiglycanin modulates cell adhesion.
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.
Identification and expression of human epiglycanin/MUC21: a novel transmembrane mucin
Title: Identification and expression of human epiglycanin/MUC21: a novel transmembrane mucin.

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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
A genome-wide association study identifies two new risk loci for Graves' disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci are associated with white blood cell phenotypes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

D6S2945 (e-PCR)
- UniSTS:464224

D6S2697 (e-PCR)
- UniSTS:464225

D6S2697 (e-PCR)
- UniSTS:256746

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

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mucin-21

Names: epiglycanin

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

NG_054937.1 RefSeqGene

Range

5011..11196

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001010909.5 → NP_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

B0UZT7, B4DQ55, C9JMK2, D9N007, Q0VGF1, Q3B7T2, Q5SS94, Q5SSG8, Q6UXC5

Related

ENSP00000365473.3, ENST00000376296.3

Conserved Domains (2) summary

pfam05647
Location:32 → 97

Epiglycanin_TR; Tandem-repeating region of mucin, epiglycanin-like

pfam14654
Location:464 → 562

Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region
NM_001322370.2 → NP_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/TrEMBL

A0A0G2JKD1

Conserved Domains (2) summary

pfam05647
Location:122 → 177

Epiglycanin_TR; Tandem-repeating region of mucin, epiglycanin-like

pfam14654
Location:494 → 592

Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region
NM_001322371.2 → NP_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

UniProtKB/TrEMBL

B4DRX4

Conserved Domains (2) summary

pfam05647
Location:122 → 177

Epiglycanin_TR; Tandem-repeating region of mucin, epiglycanin-like

pfam14654
Location:524 → 622

Epiglycanin_C; Mucin, catalytic, TM and cytoplasmic tail region

RNA

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