PYROXD2 (pyridine nucleotide-disulphide oxidoreductase domain 2)

Gene

• Entrez ID: 84795
• Gene name: Pyridine nucleotide-disulphide oxidoreductase domain 2
• Gene symbol: PYROXD2
• Synonyms (NCBI Gene): C10orf33, FP3420, YUEF
• Chromosome: 10
• Chromosome location: 10q24.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018212	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 31170524
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	IMP	31170524
GO:0007005	Process	Mitochondrion organization	IMP	31170524
GO:0016491	Function	Oxidoreductase activity	IEA

Other IDs

• MIM: 617889
• HGNC: 23517
• e!Ensembl: ENSG00000119943

Protein

• UniProt ID: Q8N2H3
• Protein name: Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 (EC 1.-.-.-)
• Protein function: Probable oxidoreductase that may play a role as regulator of mitochondrial function.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13450	NAD_binding_8	39 → 103		Domain
  PF01593	Amino_oxidase	139 → 430	Flavin containing amine oxidoreductase	Domain

• Sequence:

  MAASGRGLCKAVAASPFPAWRRDNTEARGGLKPEYDAVVIGAGHNGLVAAAYLQRLGVNT
  AVFERRHVIGGAAVTEEIIPGFKFSRASYLLSLLRPQIYTDLELKKHGLRLHLRNPYSFT
  PMLEEGAGSKVPRCLLLGTDMAENQKQIAQFSQKDAQVFPKYEEFMHRLALAIDPLLDAA
  PVDMAAFQHGSLLQRMRSLSTLKPLLKAGRILGAQLPRYYEVLTAPITKVLDQWFESEPL
  KATLATDAVIGAMTSPHTPGSGYVLLHHVMGGLEGMQGAWGYVQGGMGALSDAIASSATT
  HGASIFTEKTVAKVQVNSEGCVQGVVLEDGTEVRSKMVLSNTSPQITFLKLTPQEWLPEE
  FLERISQLDTRSPVTKINVAVDRLPSFLAAPNAPRGQPLPHHQCSIHLNCEDTLLLHQAF
  EDAMDGLPSHRPVIELCIPSSLDPTLAPPGCHVVSLFTQYMPYTLAGGKAWDEQERDAYA
  DRVFDCIEVYAPGFKDSVVGRDILTPPDLERIFGLPGGNIFHCAMSLDQLYFARPVPLHS
  GYRCPLQGLYLCGSGAHPGGGVMGAAGRNAAHVAFRDLKSM

• Sequence length: 581

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cholangiocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DYSPLASIA OF THE HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21731453		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31815134	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32892688	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31170524		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29048625		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35606887	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35055180	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35055180	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21731453		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31815134		★☆☆☆☆ Found in Text Mining only