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

Gene ID: 84795, updated on 5-Aug-2022

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PYROXD2 in Genome Data Viewer
Location:
10q24.2
Exon count:
25
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (98383568..98415182, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (99263548..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 Sharpr-MPRA regulatory region 15191 Neighboring gene uncharacterized LOC105378449 Neighboring gene Sharpr-MPRA regulatory region 9035 Neighboring gene microRNA 1287 Neighboring gene HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 Neighboring gene microRNA 4685 Neighboring gene HPS1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_032709.3NP_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
    Q8N2H3, Q9BRQ1
    Related
    ENSP00000359607.4, ENST00000370575.5
    Conserved Domains (2) summary
    COG1233
    Location:33580
    COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
    cl21454
    Location:35578
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017016835.2XP_016872324.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X8

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

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

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

    Conserved Domains (3) summary
    COG1233
    Location:77614
    COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
    pfam13450
    Location:77118
    NAD_binding_8; NAD(P)-binding Rossmann-like domain
    cl21454
    Location:312612
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  5. XM_047425884.1XP_047281840.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X5

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

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

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

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

    Conserved Domains (2) summary
    COG1233
    Location:32459
    COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
    cl21454
    Location:157457
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  10. XM_017016840.2XP_016872329.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X12

    Conserved Domains (2) summary
    COG1233
    Location:32459
    COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
    cl21454
    Location:157457
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  11. XM_017016841.2XP_016872330.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X12

    Conserved Domains (2) summary
    COG1233
    Location:32459
    COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
    cl21454
    Location:157457
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  12. XM_047425891.1XP_047281847.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X13

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

    Conserved Domains (2) summary
    COG1233
    Location:1311
    COG1233; Phytoene dehydrogenase-related protein [Secondary metabolites biosynthesis, transport and catabolism]
    cl21454
    Location:9309
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  14. XM_047425886.1XP_047281842.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 isoform X7

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

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

  17. XM_047425889.1XP_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
    99263548..99295160 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)