PECR

protein-coding

peroxisomal trans-2-enoyl-CoA reductase, the group of Short chain dehydrogenase/reductase superfamily

Gene summary

Enables signaling receptor binding activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in phytol metabolic process. Located in peroxisome. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_018441.6

Inheritance

ClinVar variants

U:57B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.81

Max pathogenic AF

—

Genomic locus

chr2:215,996,329-216,082,955

External References & Databases

Ensembl (ENSG00000115425)

Transcript & Mutation Effects

hg38 • Region Span ~86.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodevelopmental disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0700092

Submitter: G2P

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PECR variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 57

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018441.6. 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	4 clinvar	1 clinvar	7
missense			53 clinvar		1 clinvar	54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	57	4	2	63

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018441.6	RefSeq	NP_060911.2	8	MANE Select
ENST00000265322.8	Ensembl	ENSP00000265322.7	8	MANE Select
ENST00000442122.5	Ensembl	ENSP00000395512.1	4	Standard
ENST00000896257.1	Ensembl	ENSP00000566316.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Peroxisome - Homo sapiens (human)
Biosynthesis of unsaturated fatty acids - Homo sapiens (human)
Allograft Rejection
Fatty Acid Biosynthesis
Mitochondrial LC-Fatty Acid Beta-Oxidation

Biological Process

fatty acid alpha-oxidation
protein targeting to peroxisome
fatty acid biosynthetic process
phytol metabolic process
oxidation-reduction process

Molecular Function

signaling receptor binding
2,4-dienoyl-CoA reductase (NADPH) activity
trans-2-enoyl-CoA reductase (NADPH) activity

Cellular Component

mitochondrion
peroxisome
peroxisomal membrane
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000265322
Coding exons: 8
Length: 86627
Individuals with no LoFs: 125719
Homozygous LoFs: 0
Heterozygous LoFs: 29
Defined: 125748
p: 0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0474	164	166	0.990	0.00000871	1949
Missense (PolyPhen)		68	68.874	0.9873		767
Synonymous	-1.05	74	63.3	1.17	0.00000335	605
Loss of Function	0.705	13	16.0	0.810	8.96e-7	177

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000097	0.000088	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Participates in chain elongation of fatty acids. Has no 2,4-dienoyl-CoA reductase activity.;

Recessive Scores

pRec: 0.0599

Intolerance Scores

LoFtool: 0.457
RVIS EVS: 0.35
RVIS percentile EVS: 74.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.979

Gene Damage Prediction

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