MUC2
protein-codingmucin 2, oligomeric mucus/gel-forming, the group of Mucins
Gene summary
This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~35.6 kbGenCC 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 MUC2 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . 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 | 1 | 27 | |||
| missense | 3 | 3 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 29 | 1 | 30 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_002448.5 | 58 | Standard | |
| Ensembl | ENSP00000501871.1 | 20 | Standard | |
| Ensembl | ENSP00000502432.1 | 30 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Gastric cancer - Homo sapiens (human)
- Amoebiasis - Homo sapiens (human)
- trefoil factors initiate mucosal healing
- nfkb activation by nontypeable hemophilus influenzae
- Post-translational protein modification
Biological Process
- stimulatory C-type lectin receptor signaling pathway
- O-glycan processing
- maintenance of gastrointestinal epithelium
Molecular Function
- protein binding
Cellular Component
- Golgi lumen
- plasma membrane
- inner mucus layer
- outer mucus layer
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000441003
- Coding exons
- 49
- Length
- 29545
- Individuals with no LoFs
- 123930
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 967
- Defined
- 124897
- p
- 0.00388
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.31 | 1602 | 1.76e+3 | 0.912 | 0.000114 | 17944 |
| Missense (PolyPhen) | 390 | 485.91 | 0.80262 | 5124 | ||
| Synonymous | -3.79 | 912 | 778 | 1.17 | 0.0000616 | 5708 |
| Loss of Function | 6.90 | 40 | 122 | 0.327 | 0.00000588 | 1367 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0020 | 0.0018 | notable |
| Latino/Admixed American | 0.0086 | 0.0083 | notable |
| Ashkenazi Jewish | 0.0090 | 0.0088 | notable |
| East Asian | 0.0031 | 0.0030 | notable |
| Finnish | 0.0027 | 0.0026 | notable |
| European (Non-Finnish) | 0.0027 | 0.0025 | notable |
| South Asian | 0.0048 | 0.0047 | notable |
| Other | 0.0053 | 0.0051 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Coats the epithelia of the intestines, airways, and other mucus membrane-containing organs. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. Major constituent of both the inner and outer mucus layers of the colon and may play a role in excluding bacteria from the inner mucus layer. {ECO:0000269|PubMed:19432394}.;
Essentials
- Essential (CRISPR2)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.674
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |