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

Gene ID: 84795, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in prostate (RPKM 2.4), ovary (RPKM 1.9) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (98383568..98415182, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (99263545..99295160, complement)
105.20220307 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
  • 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 (21) 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 

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_2023_10

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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