PRXL2C

protein-coding

peroxiredoxin like 2C

Gene summary

Involved in positive regulation of ERK1 and ERK2 cascade and positive regulation of glycolytic process. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C9orf21
AAED1

MANE transcript

NM_153698.2

Inheritance

—

ClinVar variants

U:46

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.15

Max pathogenic AF

—

Genomic locus

chr9:96,639,577-96,655,317

External References & Databases

Ensembl (ENSG00000158122)

Transcript & Mutation Effects

hg38 • Region Span ~15.7 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 PRXL2C variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 42

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153698.2. 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						0
missense			42 clinvar			42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	46	0	0	46

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153698.2	RefSeq	NP_714542.1	6	MANE Select
ENST00000375234.8	Ensembl	ENSP00000364382.3	6	MANE Select
ENST00000411939.5	Ensembl	ENSP00000412378.1	4	Standard
ENST00000446045.1	Ensembl	ENSP00000398933.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of glycolytic process
oxidation-reduction process
positive regulation of ERK1 and ERK2 cascade
cellular oxidant detoxification

Molecular Function

antioxidant activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375234
Coding exons: 6
Length: 15727
Individuals with no LoFs: 125623
Homozygous LoFs: 0
Heterozygous LoFs: 117
Defined: 125740
p: 0.000465

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.168	83	87.4	0.949	0.00000422	1431
Missense (PolyPhen)		31	30.38	1.0204		412
Synonymous	1.33	22	31.5	0.699	0.00000152	464
Loss of Function	-0.403	10	8.72	1.15	3.66e-7	125

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00035	0.00032	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00045	0.00043	rare
South Asian	0.0019	0.0017	notable
Other	0.00072	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0867

Intolerance Scores

RVIS EVS: 0.17
RVIS percentile EVS: 65.56

Essentials

Essential (gene trap): N