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    PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 [ Homo sapiens (human) ]

    Gene ID: 84795, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PYROXD2provided by HGNC
    Official Full Name
    pyridine nucleotide-disulphide oxidoreductase domain 2provided by HGNC
    Primary source
    HGNC:HGNC:23517
    See related
    Ensembl:ENSG00000119943 MIM:617889; AllianceGenome:HGNC:23517
    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
    YUEF; FP3420; C10orf33
    Summary
    Predicted to enable oxidoreductase activity. Involved in mitochondrion organization. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 2.4), ovary (RPKM 1.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PYROXD2 in Genome Data Viewer
    Location:
    10q24.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (98383568..98415182, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (99263545..99295160, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (100143325..100174939, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100081209-100081774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3864 Neighboring gene NANOG hESC enhancer GRCh37_chr10:100113671-100114175 Neighboring gene Sharpr-MPRA regulatory region 15191 Neighboring gene uncharacterized LOC105378449 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:100127757-100128375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:100134557-100135058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:100135059-100135558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3866 Neighboring gene microRNA 1287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3867 Neighboring gene MPRA-validated peak1064 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100182997-100183558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100183559-100184120 Neighboring gene HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 Neighboring gene microRNA 4685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2688 Neighboring gene NANOG hESC enhancer GRCh37_chr10:100213105-100213606 Neighboring gene HPS1 antisense RNA 1

    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. Pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2): Role in mitochondrial function. Wang T, et al. Mitochondrion, 2019 Jul. PMID 31170524
    2. Myeloid zinc finger 1 protein is a key transcription stimulating factor of PYROXD2 promoter. Liu H, et al. Oncol Rep, 2017 Nov. PMID 29048625
    3. A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. Nicholson G, et al. PLoS Genet, 2011 Sep. PMID 21931564, Free PMC Article
    4. Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. Rueedi R, et al. PLoS Genet, 2014 Feb. PMID 24586186, Free PMC Article
    5. A genome-wide assessment of variability in human serum metabolism. Hong MG, et al. Hum Mutat, 2013 Mar. PMID 23281178

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. data illustrated that PYROXD2 localizes to the mitochondrial inner membrane/matrix, and it plays important roles in regulating mitochondrial function.
      Title: Pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2): Role in mitochondrial function.
    2. MZF1 gene expression was not significantly correlated with PYROXD2 protein expression in the samples of resected tumor tissues, which revealed that the PYROXD2 promoter transcription activity was determined by the aggregated effect of numerous transcription factors. This finding may be helpful in understanding the underlying mechanism which regulates the PYROXD2 expression.
      Title: Myeloid zinc finger 1 protein is a key transcription stimulating factor of PYROXD2 promoter.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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

    EBI GWAS Catalog

    Description
    A genome-wide assessment of variability in human serum metabolism.
    EBI GWAS Catalog
    A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    • FLJ12197, FLJ23849, MGC13047

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2

    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_032709.3 → NP_116098.2  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2

      See identical proteins and their annotated locations for NP_116098.2

      Status: VALIDATED

      Source sequence(s)
      AK074429, AL139243, DC361966
      Consensus CDS
      CCDS7474.1
      UniProtKB/Swiss-Prot
      D3DR61, Q5TAA9, Q8N2H3, Q9BRQ1
      Related
      ENSP00000359607.4, ENST00000370575.5
      Conserved Domains (2) summary
      COG1233
      Location:33 → 580
      COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
      cl21454
      Location:35 → 578
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      98383568..98415182 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016835.2 → XP_016872324.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X8

    2. XM_047425882.1 → XP_047281838.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X2

    3. XM_047425883.1 → XP_047281839.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X4

    4. XM_011540293.3 → XP_011538595.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X3

      Conserved Domains (3) summary
      COG1233
      Location:77 → 614
      COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
      pfam13450
      Location:77 → 118
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:312 → 612
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    5. XM_047425884.1 → XP_047281840.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X5

    6. XM_047425881.1 → XP_047281837.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X1

    7. XM_047425888.1 → XP_047281844.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X9

    8. XM_047425887.1 → XP_047281843.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X9

    9. XM_017016839.3 → XP_016872328.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X12

      Conserved Domains (2) summary
      COG1233
      Location:32 → 459
      COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
      cl21454
      Location:157 → 457
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    10. XM_017016840.2 → XP_016872329.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X12

      Conserved Domains (2) summary
      COG1233
      Location:32 → 459
      COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
      cl21454
      Location:157 → 457
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    11. XM_017016841.2 → XP_016872330.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X12

      Conserved Domains (2) summary
      COG1233
      Location:32 → 459
      COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
      cl21454
      Location:157 → 457
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    12. XM_047425891.1 → XP_047281847.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X13

    13. XM_011540301.3 → XP_011538603.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X14

      Conserved Domains (2) summary
      COG1233
      Location:1 → 311
      COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
      cl21454
      Location:9 → 309
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    14. XM_047425886.1 → XP_047281842.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X7

    15. XM_047425885.1 → XP_047281841.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X6

    16. XM_047425890.1 → XP_047281846.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X11

    17. XM_047425889.1 → XP_047281845.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X10

    RNA

    1. XR_007062009.1 RNA Sequence

    2. XR_007062008.1 RNA Sequence

    3. XR_007062010.1 RNA Sequence

    4. XR_007062012.1 RNA Sequence

    5. XR_007062011.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      99263545..99295160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366988.1 → XP_054222963.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X5

    2. XM_054366987.1 → XP_054222962.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X3

    3. XM_054366986.1 → XP_054222961.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X1

    4. XM_054366991.1 → XP_054222966.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X9

    5. XM_054366990.1 → XP_054222965.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X9

    6. XM_054366994.1 → XP_054222969.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X12

    7. XM_054366995.1 → XP_054222970.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X12

    8. XM_054366996.1 → XP_054222971.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X12

    9. XM_054366997.1 → XP_054222972.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X13

    10. XM_054366998.1 → XP_054222973.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X14

    11. XM_054366989.1 → XP_054222964.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X7

    12. XM_054366993.1 → XP_054222968.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X11

    13. XM_054366992.1 → XP_054222967.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X10

    RNA

    1. XR_008488302.1 RNA Sequence

    2. XR_008488301.1 RNA Sequence

    3. XR_008488303.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N2H3.2 GenPept UniProtKB/Swiss-Prot:Q8N2H3

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