MUC5AC

protein-coding

mucin 5AC, oligomeric mucus/gel-forming, the group of Mucins

Gene summary

Predicted to be an extracellular matrix structural constituent. Predicted to act upstream of or within maintenance of lens transparency. Located in mucus layer and obsolete extracellular space. Implicated in dry eye syndrome. Biomarker of several diseases, including Sjogren's syndrome; biliary tract disease (multiple); cystic fibrosis; eye disease (multiple); and pancreatic cancer (multiple). [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001304359.2

Inheritance

—

ClinVar variants

U:6B:27

Top phenotype

Lung adenocarcinoma

gnomAD constraint

pLI —, LoF o/e 0.57

Max pathogenic AF

—

Genomic locus

chr11:1,157,953-1,201,138

External References & Databases

Ensembl (ENSG00000215182)

Transcript & Mutation Effects

hg38 • Region Span ~43.2 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 MUC5AC variants in ClinVar

3 Conditions Cataloged

not providedTotal: 26

Lung adenocarcinomaTotal: 9

Squamous cell carcinomaTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001304359.2. 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				26 clinvar		26
missense			6 clinvar	1 clinvar		7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	6	27	0	33

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001304359.2	RefSeq	NP_001291288.1	49	MANE Select
ENST00000621226.2	Ensembl	ENSP00000485659.1	49	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

IL-17 signaling pathway - Homo sapiens (human)
nfkb activation by nontypeable hemophilus influenzae
Post-translational protein modification
Dectin-2 family
Metabolism of proteins

Biological Process

stimulatory C-type lectin receptor signaling pathway
O-glycan processing
phosphatidylinositol-mediated signaling

Molecular Function

extracellular matrix structural constituent

Cellular Component

extracellular space
cytoplasm
Golgi lumen
plasma membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000534821
Coding exons: 15
Length: 70785
Individuals with no LoFs: 124843
Homozygous LoFs: 0
Heterozygous LoFs: 34
Defined: 124877
p: 0.000136

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.26	327	398	0.823	0.0000254	4043
Missense (PolyPhen)		63	104.83	0.601		1143
Synonymous	-0.251	184	180	1.02	0.0000131	1229
Loss of Function	2.26	18	31.7	0.568	0.00000164	326

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000059	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000094	0.000093	rare
European (Non-Finnish)	0.00022	0.00020	rare
South Asian	0.00024	0.00023	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Gel-forming glycoprotein of gastric and respiratoy tract epithelia that protects the mucosa from infection and chemical damage by binding to inhaled microrganisms and particles that are subsequently removed by the mucocilary system.;

Essentials

Indispensability pred.: E
Indispensability score: 0.539

Gene Damage Prediction

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