Aliases for PYROXD2 Gene

Aliases for PYROXD2 Gene

  • Pyridine Nucleotide-Disulphide Oxidoreductase Domain 2 2 3 5
  • Pyridine Nucleotide-Disulfide Oxidoreductase Domain-Containing Protein 2 3 4
  • C10orf33 3 4
  • Chromosome 10 Open Reading Frame 33 2
  • EC 1.-.-.- 4
  • FLJ23849 2
  • PYROXD2 5
  • FP3420 3
  • YUEF 3

External Ids for PYROXD2 Gene

Previous HGNC Symbols for PYROXD2 Gene

  • C10orf33

Previous GeneCards Identifiers for PYROXD2 Gene

  • GC10M100134
  • GC10M093768

Summaries for PYROXD2 Gene

GeneCards Summary for PYROXD2 Gene

PYROXD2 (Pyridine Nucleotide-Disulphide Oxidoreductase Domain 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is RETSAT.

UniProtKB/Swiss-Prot Summary for PYROXD2 Gene

Additional gene information for PYROXD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PYROXD2 Gene

Genomics for PYROXD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PYROXD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J098414 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 670.3 +0.1 90 2.2 HNRNPL GATAD2A TEAD4 PRDM10 REST NFKBIZ KDM1A POLR2A TARDBP ZHX2 PYROXD2 lnc-HPS1-1 lnc-R3HCC1L-4 LOXL4
GH10J098403 Enhancer 0.9 Ensembl ENCODE 60.6 +10.8 10814 3.1 RELA PKNOX1 IKZF2 EED ARID3A DPF2 RELB EGR1 RUNX3 GATAD2B lnc-R3HCC1L-4 PYROXD2 LOXL4 HPS1 MIR1287
GH10J098382 Enhancer 0.6 Ensembl ENCODE 73.9 +31.8 31823 1.7 JUND CEBPB FOS NR2F2 ZNF335 HE856182 PYROXD2 LOXL4 lnc-HPS1-2
GH10J098390 Enhancer 0.7 Ensembl ENCODE 63.6 +23.9 23882 2.6 REST EED RUNX3 GABPA USF2 IKZF1 SPI1 STAT5A MYC MAX PYROXD2 LOXL4 MIR1287 lnc-HPS1-2
GH10J098373 Enhancer 0.7 Ensembl ENCODE 63.4 +40.8 40789 2.4 ZIC2 ESR1 ZNF316 MAFF FOS MAFK PKNOX1 MAFG GATA2 EMSY PYROXD2 LOXL4 MIR1287 HE856182 piR-52773-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PYROXD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PYROXD2

Top Transcription factor binding sites by QIAGEN in the PYROXD2 gene promoter:
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • Olf-1
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA
  • ZID

Genomic Locations for PYROXD2 Gene

Genomic Locations for PYROXD2 Gene
chr10:98,383,565-98,415,182
(GRCh38/hg38)
Size:
31,618 bases
Orientation:
Minus strand
chr10:100,143,322-100,174,978
(GRCh37/hg19)
Size:
31,657 bases
Orientation:
Minus strand

Genomic View for PYROXD2 Gene

Genes around PYROXD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PYROXD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PYROXD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PYROXD2 Gene

Proteins for PYROXD2 Gene

  • Protein details for PYROXD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2H3-PYRD2_HUMAN
    Recommended name:
    Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2
    Protein Accession:
    Q8N2H3
    Secondary Accessions:
    • D3DR61
    • Q5TAA9
    • Q9BRQ1

    Protein attributes for PYROXD2 Gene

    Size:
    581 amino acids
    Molecular mass:
    63068 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PYROXD2 Gene

Post-translational modifications for PYROXD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PYROXD2 Gene

Domains & Families for PYROXD2 Gene

Gene Families for PYROXD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PYROXD2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PYROXD2 Gene

GenScript: Design optimal peptide antigens:
  • Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 (PYRD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N2H3

UniProtKB/Swiss-Prot:

PYRD2_HUMAN :
  • Belongs to the carotenoid/retinoid oxidoreductase family.
Family:
  • Belongs to the carotenoid/retinoid oxidoreductase family.
genes like me logo Genes that share domains with PYROXD2: view

Function for PYROXD2 Gene

Molecular function for PYROXD2 Gene

UniProtKB/Swiss-Prot Function:
Probable oxidoreductase.

Enzyme Numbers (IUBMB) for PYROXD2 Gene

Phenotypes From GWAS Catalog for PYROXD2 Gene

Gene Ontology (GO) - Molecular Function for PYROXD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with PYROXD2: view
genes like me logo Genes that share phenotypes with PYROXD2: view

Animal Model Products

CRISPR Products

miRNA for PYROXD2 Gene

miRTarBase miRNAs that target PYROXD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYROXD2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PYROXD2 Gene

Localization for PYROXD2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PYROXD2 gene
Compartment Confidence
mitochondrion 3
extracellular 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PYROXD2 Gene

Pathways & Interactions for PYROXD2 Gene

PathCards logo

SuperPathways for PYROXD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PYROXD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PYROXD2: view

No data available for Pathways by source and SIGNOR curated interactions for PYROXD2 Gene

Drugs & Compounds for PYROXD2 Gene

No Compound Related Data Available

Transcripts for PYROXD2 Gene

mRNA/cDNA for PYROXD2 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYROXD2

Alternative Splicing Database (ASD) splice patterns (SP) for PYROXD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b
SP1: - - -
SP2: -
SP3: -
SP4: -
SP5:

Relevant External Links for PYROXD2 Gene

GeneLoc Exon Structure for
PYROXD2

Expression for PYROXD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PYROXD2 Gene

Protein differential expression in normal tissues from HIPED for PYROXD2 Gene

This gene is overexpressed in Salivary gland (33.6), Cervix (18.7), and Plasma (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PYROXD2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PYROXD2

SOURCE GeneReport for Unigene cluster for PYROXD2 Gene:

Hs.238303

Evidence on tissue expression from TISSUES for PYROXD2 Gene

  • Thyroid gland(4.2)
  • Kidney(2.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with PYROXD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PYROXD2 Gene

Orthologs for PYROXD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PYROXD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PYROXD2 30 31
  • 99.2 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PYROXD2 30 31
  • 87.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PYROXD2 30 31
  • 86.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pyroxd2 30 17 31
  • 84.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pyroxd2 30
  • 84.05 (n)
Oppossum
(Monodelphis domestica)
Mammalia PYROXD2 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PYROXD2 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PYROXD2 30 31
  • 73.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PYROXD2 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pyroxd2 30
  • 66.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii pyroxd2 30 31
  • 63.16 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F37C4.6 30 31
  • 55.91 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G49555 30
  • 53.06 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0631800 30
  • 54.24 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.8340 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
Species where no ortholog for PYROXD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PYROXD2 Gene

ENSEMBL:
Gene Tree for PYROXD2 (if available)
TreeFam:
Gene Tree for PYROXD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PYROXD2: view image

Paralogs for PYROXD2 Gene

Paralogs for PYROXD2 Gene

genes like me logo Genes that share paralogs with PYROXD2: view

Variants for PYROXD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PYROXD2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs17856170 - p.Pro428Ser
rs2147896 - p.Met461Thr
rs2296441 - p.Ala533Thr

Additional dbSNP identifiers (rs#s) for PYROXD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PYROXD2 Gene

Variant ID Type Subtype PubMed ID
esv2049452 CNV deletion 18987734
esv2739973 CNV deletion 23290073
esv2739984 CNV deletion 23290073
esv2739995 CNV deletion 23290073
esv2740006 CNV deletion 23290073
nsv515723 CNV loss 19592680
nsv524427 CNV loss 19592680
nsv831955 CNV gain 17160897

Variation tolerance for PYROXD2 Gene

Residual Variation Intolerance Score: 90.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.00; 94.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PYROXD2 Gene

Human Gene Mutation Database (HGMD)
PYROXD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PYROXD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PYROXD2 Gene

Disorders for PYROXD2 Gene

Additional Disease Information for PYROXD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for PYROXD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PYROXD2 Gene

Publications for PYROXD2 Gene

  1. A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. (PMID: 21931564) Nicholson G … Holmes CC (PLoS genetics 2011) 3 41
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2): Role in mitochondrial function. (PMID: 31170524) Wang T … Fan H (Mitochondrion 2019) 3

Products for PYROXD2 Gene

Sources for PYROXD2 Gene