FOXRED2

protein-coding

FAD dependent oxidoreductase domain containing 2

Gene summary

Enables flavin adenine dinucleotide binding activity. Involved in ERAD pathway. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001102371.2

Inheritance

—

ClinVar variants

U:108B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.36

Max pathogenic AF

—

Genomic locus

chr22:36,487,190-36,507,221

External References & Databases

Ensembl (ENSG00000100350)

Transcript & Mutation Effects

hg38 • Region Span ~20.0 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 FOXRED2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 111

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001102371.2. 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 clinvar		2
missense			107 clinvar	6 clinvar		113
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	108	7	0	115

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 40 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001102371.2	RefSeq	NP_001095841.1	8	MANE Select
ENST00000397224.9	Ensembl	ENSP00000380401.4	8	MANE Select
NM_001363041.2	RefSeq	NP_001349970.1	7	Standard
NM_001363042.2	RefSeq	NP_001349971.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

ubiquitin-dependent ERAD pathway
oxidation-reduction process

Molecular Function

protein binding
oxidoreductase activity
flavin adenine dinucleotide binding

Cellular Component

endoplasmic reticulum lumen

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000397224
Coding exons: 8
Length: 19912
Individuals with no LoFs: 125655
Homozygous LoFs: 0
Heterozygous LoFs: 93
Defined: 125748
p: 0.000370

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.682	403	443	0.909	0.0000316	4434
Missense (PolyPhen)		111	145.69	0.76187		1440
Synonymous	-0.112	194	192	1.01	0.0000140	1429
Loss of Function	3.00	9	25.2	0.356	0.00000141	256

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.0047	0.0047	notable
East Asian	0.00022	0.00022	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00025	0.00025	rare
South Asian	0.00013	0.00013	rare
Other	0.00081	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable flavoprotein which may function in endoplasmic reticulum associated degradation (ERAD). May bind non-native proteins in the endoplasmic reticulum and target them to the ubiquitination machinery for subsequent degradation. {ECO:0000269|PubMed:19706418}.;

Intolerance Scores

LoFtool: 0.782
RVIS EVS: 0.59
RVIS percentile EVS: 82.35

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.873

Gene Damage Prediction

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