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FOXRED2 FAD dependent oxidoreductase domain containing 2 [ Homo sapiens (human) ]

Gene ID: 80020, updated on 3-Nov-2024

Summary

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Official Symbol
FOXRED2provided by HGNC
Official Full Name
FAD dependent oxidoreductase domain containing 2provided by HGNC
Primary source
HGNC:HGNC:26264
See related
Ensembl:ENSG00000100350 MIM:613777; AllianceGenome:HGNC:26264
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ERFAD
Summary
Enables flavin adenine dinucleotide binding activity. Involved in ERAD pathway. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 9.7), ovary (RPKM 6.3) and 24 other tissues See more
Orthologs
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Genomic context

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See FOXRED2 in Genome Data Viewer
Location:
22q12.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36487190..36507040, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (36947364..36967214, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36883237..36903087, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36847553-36848057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36848058-36848561 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36851001-36851651 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36851652-36852301 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36857497-36858029 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36865950-36866786 Neighboring gene thioredoxin 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36878117-36879063 Neighboring gene uncharacterized LOC105373020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18936 Neighboring gene eukaryotic translation initiation factor 3 subunit D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18938 Neighboring gene HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The flavoprotein FOXRED2 reductively activates nitro-chloromethylbenzindolines and other hypoxia-targeting prodrugs. Hunter FW, et al. Biochem Pharmacol, 2014 May 15. PMID 24632291
  2. Identification of the PDI-family member ERp90 as an interaction partner of ERFAD. Riemer J, et al. PLoS One, 2011 Feb 16. PMID 21359175, Free PMC Article
  3. Amyloid β-induced FOXRED2 mediates neuronal cell death via inhibition of proteasome activity. Shim S, et al. Cell Mol Life Sci, 2011 Jun. PMID 20972601, Free PMC Article
  4. A luminal flavoprotein in endoplasmic reticulum-associated degradation. Riemer J, et al. Proc Natl Acad Sci U S A, 2009 Sep 1. PMID 19706418, Free PMC Article
  5. Unassembled CD147 is an endogenous endoplasmic reticulum-associated degradation substrate. Tyler RE, et al. Mol Biol Cell, 2012 Dec. PMID 23097496, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression of FOXRED2 increases activity of hypoxia-targeted prodrugs.
    Title: The flavoprotein FOXRED2 reductively activates nitro-chloromethylbenzindolines and other hypoxia-targeting prodrugs.
  2. ERFAD facilitates the dislocation of certain endoplasmic reticulum-associated degradation substrates to the cytosol.
    Title: A luminal flavoprotein in endoplasmic reticulum-associated degradation.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23322, FLJ33734

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ERAD pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
FAD-dependent oxidoreductase domain-containing protein 2
Names
ER flavoprotein associated with degradation
endoplasmic reticulum flavoprotein associated with degradation

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001102371.2 → NP_001095841.1  FAD-dependent oxidoreductase domain-containing protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001095841.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1 and encodes isoform 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL022313, BC040351, BG054783
    Consensus CDS
    CCDS13929.1
    UniProtKB/Swiss-Prot
    B2RDI4, Q8IWF2, Q8N378, Q96BD1, Q9H5L5, Q9H6M8
    Related
    ENSP00000380401.4, ENST00000397224.9
    Conserved Domains (1) summary
    COG2072
    Location:23 → 245
    CzcO; Predicted flavoprotein CzcO associated with the cation diffusion facilitator CzcD [Inorganic ion transport and metabolism]

  2. NM_001363041.2 → NP_001349970.1  FAD-dependent oxidoreductase domain-containing protein 2 isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1, and encodes a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL022313, BG054783
    Consensus CDS
    CCDS93159.1
    UniProtKB/TrEMBL
    A0A8I5KV30, A0A8I5KVQ6
    Related
    ENSP00000508644.1, ENST00000685612.1
    Conserved Domains (1) summary
    COG2072
    Location:23 → 330
    CzcO; Predicted flavoprotein CzcO associated with the cation diffusion facilitator CzcD [Inorganic ion transport and metabolism]

  3. NM_001363042.2 → NP_001349971.1  FAD-dependent oxidoreductase domain-containing protein 2 isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1, and encodes a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL022313, BG054783
    Consensus CDS
    CCDS93159.1
    UniProtKB/TrEMBL
    A0A8I5KV30, A0A8I5KVQ6
    Related
    ENSP00000508709.1, ENST00000685224.1
    Conserved Domains (1) summary
    COG2072
    Location:23 → 330
    CzcO; Predicted flavoprotein CzcO associated with the cation diffusion facilitator CzcD [Inorganic ion transport and metabolism]

  4. NM_024955.6 → NP_079231.4  FAD-dependent oxidoreductase domain-containing protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_079231.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL022313, AU279706, BC027716, BC040351, BG054783
    Consensus CDS
    CCDS13929.1
    UniProtKB/Swiss-Prot
    B2RDI4, Q8IWF2, Q8N378, Q96BD1, Q9H5L5, Q9H6M8
    Related
    ENSP00000216187.6, ENST00000216187.10
    Conserved Domains (1) summary
    COG2072
    Location:23 → 245
    CzcO; Predicted flavoprotein CzcO associated with the cation diffusion facilitator CzcD [Inorganic ion transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    36487190..36507040 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441497.1 → XP_047297453.1  FAD-dependent oxidoreductase domain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    A0A8I5KV30
    Related
    ENSP00000509129.1, ENST00000691242.1

  2. XM_047441496.1 → XP_047297452.1  FAD-dependent oxidoreductase domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2RDI4, Q8IWF2, Q8N378, Q96BD1, Q9H5L5, Q9H6M8
    Related
    ENSP00000510800.1, ENST00000684868.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    36947364..36967214 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IWF2.1 GenPept UniProtKB/Swiss-Prot:Q8IWF2

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