SERPINB11

protein-coding

serpin family B member 11, the group of Serpin peptidase inhibitors

Gene summary

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in cytoplasm. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001370475.1

Inheritance

—

ClinVar variants

U:71B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr18:63,647,579-63,726,432

External References & Databases

Ensembl (ENSG00000206072)

Transcript & Mutation Effects

hg38 • Region Span ~78.9 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 SERPINB11 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 72

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001370475.1. 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			71 clinvar	4 clinvar		75
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	4	0	75

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001370475.1	RefSeq	NP_001357404.1	7	MANE Select
ENST00000544088.6	Ensembl	ENSP00000441497.1	7	MANE Select
NM_001291278.2	RefSeq	NP_001278207.1	5	Standard
NM_001291279.2	RefSeq	NP_001278208.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of endopeptidase activity

Molecular Function

serine-type endopeptidase inhibitor activity

Cellular Component

extracellular space
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: polymorphic_pseudogene
Transcript type: protein_coding
Transcript: ENST00000544088
Coding exons: 7
Length: 76315
Individuals with no LoFs: 124345
Homozygous LoFs: 3
Heterozygous LoFs: 527
Defined: 124875
p: 0.00212

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.02	235	195	1.21	0.00000953	2567
Missense (PolyPhen)		75	63.215	1.1864		837
Synonymous	-0.994	88	76.9	1.14	0.00000446	721
Loss of Function	1.07	12	16.7	0.717	7.55e-7	214

Population LoF Frequency

Population	CAF	p-value	Status
African	0.017	0.017	notable
Latino/Admixed American	0.0060	0.0059	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00068	0.00067	rare
Finnish	0.000052	0.000046	rare
European (Non-Finnish)	0.00024	0.00022	rare
South Asian	0.00086	0.00082	rare
Other	0.0010	0.00099	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Has no serine protease inhibitory activity, probably due to mutations in the scaffold impairing conformational change. {ECO:0000269|PubMed:17562709}.;

Essentials

Essential (CRISPR2): N