SERPINB12
protein-codingserpin family B member 12, the group of Serpin peptidase inhibitors
Gene summary
Enables serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of protein catabolic process. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Located in extracellular matrix. [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 ~27.0 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 SERPINB12 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001307928.2. 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 | 0 | |||||
| missense | 70 | 2 | 72 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 70 | 2 | 0 | 72 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001294857.1 | 7 | MANE Select | |
| Ensembl | ENSP00000372218.1 | 7 | MANE Select | |
| RefSeq | NP_536722.1 | 7 | Standard | |
| Ensembl | ENSP00000269491.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Neutrophil degranulation
- Innate Immune System
- Immune System
Biological Process
- hematopoietic progenitor cell differentiation
- negative regulation of endopeptidase activity
- negative regulation of protein catabolic process
- neutrophil degranulation
Molecular Function
- serine-type endopeptidase inhibitor activity
- enzyme binding
Cellular Component
- extracellular space
- cytoplasm
- plasma membrane
- ficolin-1-rich granule membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000269491
- Coding exons
- 7
- Length
- 10852
- Individuals with no LoFs
- 125514
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 231
- Defined
- 125746
- p
- 0.000923
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.714 | 246 | 216 | 1.14 | 0.0000108 | 2717 |
| Missense (PolyPhen) | 81 | 70.352 | 1.1514 | 923 | ||
| Synonymous | -0.319 | 85 | 81.3 | 1.04 | 0.00000439 | 729 |
| Loss of Function | -2.82 | 30 | 17.3 | 1.73 | 8.29e-7 | 217 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0015 | 0.0015 | notable |
| Latino/Admixed American | 0.0014 | 0.0014 | notable |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0.00049 | 0.00049 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00079 | 0.00079 | rare |
| South Asian | 0.0017 | 0.0016 | notable |
| Other | 0.0011 | 0.0011 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Inhibits trypsin and plasmin, but not thrombin, coagulation factor Xa, or urokinase-type plasminogen activator.;
Recessive Scores
- pRec
- 0.122
Intolerance Scores
- LoFtool
- 0.301
- RVIS EVS
- 0.64
- RVIS percentile EVS
- 83.98
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.814
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |