TMPRSS11B
protein-codingtransmembrane serine protease 11B, the group of Type II transmembrane serine proteases
Gene summary
Enables serine-type peptidase activity. Predicted to be involved in protein processing. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~19.0 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 TMPRSS11B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_182502.3. 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 | 0 | |||||
| missense | 59 | 4 | 63 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 59 | 4 | 0 | 63 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_872308.2 | 10 | MANE Select | |
| Ensembl | ENSP00000330475.5 | 10 | MANE Select | |
| RefSeq | XP_011529910.1 | 10 | Standard | |
| RefSeq | XP_011529911.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- proteolysis
- biological_process
Molecular Function
- serine-type endopeptidase activity
- serine-type peptidase activity
Cellular Component
- plasma membrane
- integral component of plasma membrane
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000332644
- Coding exons
- 10
- Length
- 19068
- Individuals with no LoFs
- 125132
- Homozygous LoFs
- 11
- Heterozygous LoFs
- 593
- Defined
- 125736
- p
- 0.00240
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.357 | 231 | 216 | 1.07 | 0.0000103 | 2749 |
| Missense (PolyPhen) | 71 | 55.074 | 1.2892 | 764 | ||
| Synonymous | 2.03 | 49 | 70.8 | 0.692 | 0.00000330 | 763 |
| Loss of Function | -1.11 | 25 | 19.7 | 1.27 | 8.29e-7 | 259 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0019 | 0.0018 | notable |
| Latino/Admixed American | 0.00062 | 0.00046 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.030 | 0.029 | notable |
| Finnish | 0.000095 | 0.000092 | rare |
| European (Non-Finnish) | 0.000090 | 0.000088 | rare |
| South Asian | 0.00051 | 0.00049 | rare |
| Other | 0.0014 | 0.0013 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Serine protease. {ECO:0000269|PubMed:24498351}.;
Recessive Scores
- pRec
- 0.0966
Intolerance Scores
- LoFtool
- 0.404
- RVIS EVS
- -0.11
- RVIS percentile EVS
- 45.49
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0122
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |