FOXRED2

FAD dependent oxidoreductase domain containing 2

Basic information

Region (hg38): 22:36487189-36507221

Links

ENSG00000100350 ∙ NCBI:80020 ∙ OMIM:613777 ∙ HGNC:26264 ∙ Uniprot:Q8IWF2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FOXRED2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOXRED2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			49	2		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	49	3	0

Variants in FOXRED2

This is a list of pathogenic ClinVar variants found in the FOXRED2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-36490013-G-A		not specified	Uncertain significance (Feb 16, 2023)
22-36490069-C-G		not specified	Uncertain significance (Mar 01, 2024)
22-36490072-A-G		not specified	Uncertain significance (May 06, 2024)
22-36490088-C-G		not specified	Uncertain significance (Jan 06, 2023)
22-36490114-C-T		not specified	Uncertain significance (Dec 16, 2021)
22-36490138-C-T		not specified	Uncertain significance (Feb 23, 2023)
22-36490139-G-A		not specified	Uncertain significance (Feb 14, 2023)
22-36490198-A-T		not specified	Uncertain significance (Jun 29, 2022)
22-36490240-C-T		not specified	Likely benign (Aug 12, 2021)
22-36490244-T-C		not specified	Uncertain significance (Jan 08, 2024)
22-36490267-T-G		not specified	Uncertain significance (Mar 01, 2023)
22-36493650-A-G		not specified	Uncertain significance (Apr 12, 2023)
22-36493707-G-A		not specified	Uncertain significance (Jan 09, 2024)
22-36493707-G-T		not specified	Uncertain significance (Mar 07, 2024)
22-36493753-C-A		not specified	Uncertain significance (Mar 07, 2024)
22-36493762-G-A		not specified	Uncertain significance (Feb 09, 2022)
22-36496048-G-A		not specified	Uncertain significance (Dec 14, 2022)
22-36496074-G-A		not specified	Uncertain significance (Feb 16, 2023)
22-36496120-C-T		not specified	Uncertain significance (Jan 06, 2023)
22-36496138-C-T		not specified	Uncertain significance (Mar 19, 2024)
22-36496179-T-G		not specified	Uncertain significance (Mar 19, 2024)
22-36498000-A-G		not specified	Uncertain significance (Feb 28, 2023)
22-36498051-T-C		not specified	Uncertain significance (May 02, 2024)
22-36498057-C-T		not specified	Uncertain significance (Dec 20, 2021)
22-36498064-C-T		not specified	Uncertain significance (Dec 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOXRED2	protein_coding	protein_coding	ENST00000397224	8	19912

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00252	0.997	125655	0	93	125748	0.000370

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.682	403	443	0.909	0.0000316	4434
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00466	0.00467
East Asian	0.000217	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000248	0.000246
Middle Eastern	0.000217	0.000217
South Asian	0.000131	0.000131
Other	0.000814	0.000815

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.112
• hipred: Y
• hipred_score: 0.563
• ghis: 0.513

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.873

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Foxred2

Gene ontology

• Biological process: ubiquitin-dependent ERAD pathway;oxidation-reduction process
• Cellular component: endoplasmic reticulum lumen
• Molecular function: protein binding;oxidoreductase activity;flavin adenine dinucleotide binding