MUC17

protein-coding

mucin 17, cell surface associated, the group of Mucins

Gene summary

The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]

MANE transcript

NM_001040105.2

Inheritance

—

ClinVar variants

U:933B:87

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 1.24

Max pathogenic AF

—

Genomic locus

chr7:101,020,072-101,058,859

External References & Databases

Ensembl (ENSG00000169876)

Transcript & Mutation Effects

hg38 • Region Span ~38.8 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 MUC17 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 975

not providedTotal: 30

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001040105.2. 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			3 clinvar	21 clinvar		24
missense			930 clinvar	62 clinvar		992
nonsense						0
start loss						0
frameshift				4 clinvar		4
splice donor/acceptor (+/-2bp)						0
Total	0	0	933	87	0	1020

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001040105.2	RefSeq	NP_001035194.1	13	MANE Select
ENST00000306151.9	Ensembl	ENSP00000302716.4	13	MANE Select
ENST00000379439.3	Ensembl	ENSP00000368751.3	7	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
cellular homeostasis

Molecular Function

protein binding
PDZ domain binding
extracellular matrix constituent, lubricant activity

Cellular Component

Golgi lumen
plasma membrane
external side of plasma membrane
integral component of membrane
apical plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000306151
Coding exons: 13
Length: 38668
Individuals with no LoFs: 124239
Homozygous LoFs: 7
Heterozygous LoFs: 1502
Defined: 125748
p: 0.00602

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-7.83	3313	2.26e+3	1.46	0.000117	27937
Missense (PolyPhen)		443	301.84	1.4677		3948
Synonymous	-9.46	1171	825	1.42	0.0000466	10318
Loss of Function	-1.85	85	68.5	1.24	0.00000312	1198

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0013	0.0013	notable
Latino/Admixed American	0.0070	0.0069	notable
Ashkenazi Jewish	0.012	0.012	notable
East Asian	0.0026	0.0026	notable
Finnish	0.0086	0.0086	notable
European (Non-Finnish)	0.0045	0.0044	notable
South Asian	0.011	0.011	notable
Other	0.0091	0.0092	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probably plays a role in maintaining homeostasis on mucosal surfaces. {ECO:0000269|PubMed:17990980}.;

Intolerance Scores

LoFtool: 0.930
RVIS EVS: 16.95
RVIS percentile EVS: 99.98

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00697

Gene Damage Prediction

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