SERPINB2

protein-coding

serpin family B member 2, the group of Serpin peptidase inhibitors

Gene summary

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in fibrinolysis and negative regulation of apoptotic process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

PLANH2
PAI2

MANE transcript

NM_002575.3

Inheritance

—

ClinVar variants

U:51B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.02

Max pathogenic AF

—

Genomic locus

chr18:63,871,692-63,903,888

External References & Databases

Ensembl (ENSG00000197632)

Transcript & Mutation Effects

hg38 • Region Span ~32.2 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 SERPINB2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 54

not providedTotal: 10

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002575.3. 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			1 clinvar	1 clinvar	3 clinvar	5
missense			50 clinvar	8 clinvar	2 clinvar	60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	51	9	5	65

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002575.3	RefSeq	NP_002566.1	7	MANE Select
ENST00000299502.9	Ensembl	ENSP00000299502.4	7	MANE Select
NM_001143818.2	RefSeq	NP_001137290.1	7	Standard
ENST00000404622.5	Ensembl	ENSP00000385397.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Complement and coagulation cascades - Homo sapiens (human)
Blood Clotting Cascade
Aryl Hydrocarbon Receptor Pathway
Nuclear Receptors Meta-Pathway
Dengue-2 Interactions with Blood Clotting Cascade

Biological Process

negative regulation of endopeptidase activity
interleukin-12-mediated signaling pathway
wound healing
fibrinolysis
negative regulation of apoptotic process

Molecular Function

serine-type endopeptidase inhibitor activity

Cellular Component

extracellular region
extracellular space
cytoplasm
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000457692
Coding exons: 7
Length: 32199
Individuals with no LoFs: 125709
Homozygous LoFs: 0
Heterozygous LoFs: 32
Defined: 125741
p: 0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.773	257	224	1.15	0.0000112	2746
Missense (PolyPhen)		88	78.934	1.1149		1021
Synonymous	-1.65	99	80.2	1.24	0.00000413	765
Loss of Function	-0.0871	17	16.6	1.02	7.64e-7	222

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00031	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.000060	0.000054	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00017	0.00016	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Inhibits urokinase-type plasminogen activator. The monocyte derived PAI-2 is distinct from the endothelial cell- derived PAI-1.;

Recessive Scores

pRec: 0.374

Intolerance Scores

LoFtool: 0.221
RVIS EVS: 0.2
RVIS percentile EVS: 67.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.808

Gene Damage Prediction

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