PEAK3

protein-coding

PEAK family member 3

Gene summary

Predicted to enable protein kinase activity. Involved in regulation of actin cytoskeleton organization and regulation of cell shape. Predicted to be active in actin cytoskeleton and focal adhesion. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C19orf35

MANE transcript

NM_198532.3

Inheritance

—

ClinVar variants

U:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.9

Max pathogenic AF

—

Genomic locus

chr19:2,274,631-2,282,175

External References & Databases

Ensembl (ENSG00000188305)

Transcript & Mutation Effects

hg38 • Region Span ~7.5 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 PEAK3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 5

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198532.3. 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						0
missense			5 clinvar			5
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	6	0	0	6

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198532.3	RefSeq	NP_940934.1	3	MANE Select
ENST00000342063.5	Ensembl	ENSP00000345102.3	3	MANE Select
ENST00001142343.1	Ensembl	ENSP00000808174.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000342063
Coding exons: 3
Length: 7551
Individuals with no LoFs: 123911
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 123924
p: 0.0000525

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.857	213	251	0.848	0.0000181	2833
Missense (PolyPhen)		52	62.389	0.83348		787
Synonymous	1.20	111	128	0.866	0.0000101	1133
Loss of Function	0.198	4	4.45	0.899	1.90e-7	61

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00021	0.00019	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000062	0.000055	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000052	0.000045	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (gene trap): N