MUC13

protein-coding

mucin 13, cell surface associated, the group of Mucins

Gene summary

Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]

Previous symbols:

DRCC1

MANE transcript

NM_033049.4

Inheritance

—

ClinVar variants

U:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.39

Max pathogenic AF

—

Genomic locus

chr3:124,905,442-124,953,819

External References & Databases

Ensembl (ENSG00000173702)

Transcript & Mutation Effects

hg38 • Region Span ~48.4 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 MUC13 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_033049.4. 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			1 clinvar			1
missense			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	2	0	0	2

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_033049.4	RefSeq	NP_149038.3	11	MANE Select
ENST00000616727.4	Ensembl	ENSP00000485028.1	11	MANE Select
ENST00000478191.1	Ensembl	ENSP00000418660.1	6	Standard
ENST00000891595.1	Ensembl	ENSP00000561654.1	9	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
maintenance of gastrointestinal epithelium

Molecular Function

protein homodimerization activity

Cellular Component

extracellular space
Golgi lumen
cytosol
plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000311075
Coding exons: 11
Length: 48375
Individuals with no LoFs: 125721
Homozygous LoFs: 0
Heterozygous LoFs: 26
Defined: 125747
p: 0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.866	235	275	0.853	0.0000137	3348
Missense (PolyPhen)		45	55.473	0.8112		703
Synonymous	0.771	96	106	0.905	0.00000604	1000
Loss of Function	2.59	8	20.8	0.386	8.76e-7	288

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00031	rare
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.000054	0.000053	rare
South Asian	0.000035	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.;

Recessive Scores

pRec: 0.0418

Essentials

Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.166

Gene Damage Prediction

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