MUC21

protein-coding

mucin 21, cell surface associated, the group of Mucins

Gene 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]

Previous symbols:

C6orf205

MANE transcript

NM_001010909.5

Inheritance

—

ClinVar variants

U:85B:75

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.46

Max pathogenic AF

—

Genomic locus

chr6:30,983,718-30,989,903

External References & Databases

Ensembl (ENSG00000204544)

Transcript & Mutation Effects

hg38 • Region Span ~6.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MUC21 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 94

not providedTotal: 63

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

MUC21-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001010909.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				60 clinvar		60
missense			85 clinvar	13 clinvar		98
nonsense						0
start loss						0
frameshift				1 clinvar	1 clinvar	2
splice donor/acceptor (+/-2bp)						0
Total	0	0	85	74	1	160

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001010909.5	RefSeq	NP_001010909.2	3	MANE Select
ENST00000376296.3	Ensembl	ENSP00000365473.3	3	MANE Select
ENST00000486149.2	Ensembl	ENSP00000457640.1	2	Standard
ENST00000486149.3	Ensembl	ENSP00000457640.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein modification
Dectin-2 family
Metabolism of proteins
C-type lectin receptors (CLRs)
Innate Immune System

Biological Process

stimulatory C-type lectin receptor signaling pathway
O-glycan processing
negative regulation of cell-cell adhesion

Cellular Component

Golgi lumen
plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000376296
Coding exons: 3
Length: 6186
Individuals with no LoFs: 123171
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 123172
p: 0.00000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.567	253	280	0.905	0.0000140	3539
Missense (PolyPhen)		26	31.274	0.83137		362
Synonymous	-0.938	126	113	1.11	0.00000598	1194
Loss of Function	1.04	2	4.33	0.462	1.87e-7	65

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000090	0.0000090	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.886
RVIS EVS: 2.44
RVIS percentile EVS: 98.56

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium