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

    Gene ID: 80020, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 9.7), ovary (RPKM 6.3) and 24 other tissues See more
    Orthologs
    mouse all
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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
    • 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 (33) 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    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, A0A8I5KVQ6
      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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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