PIERCE2

protein-coding

piercer of microtubule wall 2

Gene summary

Predicted to be involved in axoneme assembly; determination of left/right symmetry; and flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C15orf65

MANE transcript

NM_001198784.2

Inheritance

—

ClinVar variants

B:1

Top phenotype

DYX1C1-related disorders

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr15:55,408,495-55,418,798

External References & Databases

Ensembl (ENSG00000261652)

Transcript & Mutation Effects

hg38 • Region Span ~10.3 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 PIERCE2 variants in ClinVar

3 Conditions Cataloged

not providedTotal: 4

DYX1C1-related disordersTotal: 1

DNAAF4-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001198784.2. 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
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	1	0	1

Highest pathogenic variant AF is 0.000007687438

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001198784.2	RefSeq	NP_001185713.1	2	MANE Select
ENST00000569691.2	Ensembl	ENSP00000456337.1	2	MANE Select
ENST00000570794.2	Ensembl	ENSP00000516647.1	3	Standard
ENST00000570794.3	Ensembl	ENSP00000516647.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000569691
Coding exons: 2
Length: 10217
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.641	41	54.3	0.755	0.00000233	780
Missense (PolyPhen)		13	19.23	0.67601		268
Synonymous	1.27	12	19.0	0.630	8.16e-7	230
Loss of Function	1.26	1	3.57	0.280	1.49e-7	58

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N

Gene Damage Prediction

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