PYROXD2 (pyridine nucleotide-disulphide oxidoreductase domain 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 84795
Gene name Pyridine nucleotide-disulphide oxidoreductase domain 2
Gene symbol PYROXD2
Synonyms (NCBI Gene)
C10orf33FP3420YUEF
Chromosome 10
Chromosome location 10q24.2
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT018212 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617889 23517 ENSG00000119943
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 581
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Uncertain significance rs199640378 RCV005930780
Leigh syndrome Uncertain significance rs199640378 RCV003226086
Nonpapillary renal cell carcinoma Uncertain significance rs199640378 RCV005930779
Thyroid cancer, nonmedullary, 1 Likely benign rs768726700 RCV005926898
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Esophageal Squamous Cell Carcinoma Associate 31815134
Heart Failure Associate 32892688
Melanoma Associate 35606887
Metabolic Diseases Associate 35055180
Mitochondrial Diseases Associate 35055180
Neoplasms Associate 35606887