SERPINB13

Chr 18

serpin family B member 13

Also known as: HSHUR7SEQ, HUR7, PI13, headpin

NCBI Gene: 5275 ENSG00000197641 UniProt: Q9UIV8 OMIM: 604445

This gene encodes a serine protease inhibitor that inhibits cathepsin K and may function in keratinocyte proliferation or differentiation. The gene shows low constraint against loss-of-function variants (pLI near 0, LOEUF >1), suggesting haploinsufficiency is likely tolerated. No established Mendelian diseases have been definitively linked to SERPINB13 mutations in pediatric populations.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: Service overloaded

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SERPINB13?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 65

590 rare PASS variants

Rare truncating (LoF)

1 in 990

91 rare PASS variants

Rare synonymous (reference)

1 in 210

218 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SERPINB13. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 910
South Asian	~43k	1 in 59	1 in 420
Remaining (unassigned)	~30k	1 in 74	1 in 880
European (Finnish)	~27k	1 in 310	≈ 1 in 27,000
Admixed American	~22k	1 in 110	1 in 1,300
African / African American	~21k	1 in 82	1 in 610
East Asian	~20k	1 in 140	1 in 960
Ashkenazi Jewish	~13k	1 in 860	1 in 2,200
Middle Eastern	~2,884	1 in 110	≈ 1 in 960

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 6 of 7 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 7.? see exons ↓