PI16

protein-coding

peptidase inhibitor 16, the group of CD molecules|CAP superfamily

Gene summary

Predicted to enable peptidase inhibitor activity. Predicted to act upstream of or within negative regulation of cell growth involved in cardiac muscle cell development. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_153370.3

Inheritance

—

ClinVar variants

U:61B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.84

Max pathogenic AF

—

Genomic locus

chr6:36,948,263-36,964,837

External References & Databases

Ensembl (ENSG00000164530)

Transcript & Mutation Effects

hg38 • Region Span ~16.6 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 PI16 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 61

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153370.3. 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			2 clinvar			2
missense			58 clinvar	4 clinvar		62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	61	4	0	65

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153370.3	RefSeq	NP_699201.2	6	MANE Select
ENST00000373674.4	Ensembl	ENSP00000362778.3	6	MANE Select
NM_001199159.2	RefSeq	NP_001186088.1	6	Standard
ENST00000611814.4	Ensembl	ENSP00000478888.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of peptidase activity

Molecular Function

peptidase inhibitor activity

Cellular Component

extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000373674
Coding exons: 6
Length: 10405
Individuals with no LoFs: 125466
Homozygous LoFs: 1
Heterozygous LoFs: 281
Defined: 125748
p: 0.00112

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.05	227	276	0.822	0.0000166	2928
Missense (PolyPhen)		64	80.09	0.7991		787
Synonymous	0.622	115	124	0.929	0.00000815	999
Loss of Function	0.604	14	16.7	0.840	8.10e-7	199

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00027	0.00026	rare
Ashkenazi Jewish	0.00013	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.00025	0.00023	rare
European (Non-Finnish)	0.0017	0.0015	notable
South Asian	0.0034	0.0029	notable
Other	0.00057	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May inhibit cardiomyocyte growth. {ECO:0000250|UniProtKB:Q9ET66}.;

Recessive Scores

pRec: 0.0976

Intolerance Scores

LoFtool: 0.785
RVIS EVS: 0.42
RVIS percentile EVS: 77.16

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0875

Gene Damage Prediction

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