Gene Gene information from NCBI Gene database.
Entrez ID 1371
Gene name Coproporphyrinogen oxidase
Gene symbol CPOX
Synonyms (NCBI Gene)
COXCPOCPXHARPOHCP
Chromosome 3
Chromosome location 3q11.2
Summary The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen I
SNPs SNP information provided by dbSNP.
19
SNP ID Visualize variation Clinical significance Consequence
rs28931603 G>A Pathogenic Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs121917866 G>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs121917868 T>C Pathogenic, likely-pathogenic Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121917870 G>A,C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs121917871 G>A,C Pathogenic Non coding transcript variant, stop gained, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
339
miRTarBase ID miRNA Experiments Reference
MIRT001374 hsa-miR-1-3p pSILAC 18668040
MIRT019712 hsa-miR-375 Microarray 20215506
MIRT020103 hsa-miR-361-5p Sequencing 20371350
MIRT022424 hsa-miR-124-3p Microarray 18668037
MIRT001374 hsa-miR-1-3p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0004109 Function Coproporphyrinogen oxidase activity IBA
GO:0004109 Function Coproporphyrinogen oxidase activity IDA 7987309
GO:0004109 Function Coproporphyrinogen oxidase activity IEA
GO:0004109 Function Coproporphyrinogen oxidase activity TAS 9888388
GO:0005212 Function Structural constituent of eye lens IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612732 2321 ENSG00000080819
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36551
Protein name Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial (COX) (Coprogen oxidase) (Coproporphyrinogenase) (EC 1.3.3.3)
Protein function Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway. {ECO:0000269|
PDB 2AEX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01218 Coprogen_oxidas 151 453 Coproporphyrinogen III oxidase Family
Sequence
Sequence length 454
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors
  Heme biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
137
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Coproporphyria Pathogenic rs2107113853, rs786205053, rs786205054, rs121917870, rs121917871, rs121917872, rs121917873, rs1559677768 RCV000000481
RCV000000483
RCV000000484
RCV000000485
RCV000000487
RCV000000489
RCV000000490
RCV000000491
COPROPORPHYRIA, DIGENIC Pathogenic rs121917874 RCV000000492
CPOX-related disorder Pathogenic rs786205053 RCV003415602
CPOX-related hereditary coproporphyria Likely pathogenic; Pathogenic rs121917868, rs2472120866 RCV005357050
RCV003994627
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute intermittent porphyria Benign rs1131857 RCV001844135
Sarcoma Uncertain significance rs747381138 RCV005927739
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 29425880
Anemia Neonatal Associate 11309681
Brain Neoplasms Associate 21824890
Coproporphyria Hereditary Associate 11309681, 16176984, 16398658, 19460837, 21103937
Coproporphyria Hereditary Inhibit 21734717
Drug Related Side Effects and Adverse Reactions Associate 19339664
Glioblastoma Associate 21824890
Glucose Intolerance Associate 36217215
Harderoporphyria Associate 11309681, 16176984, 21103937
Mercury Poisoning Nervous System Associate 19339664