Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1371
Gene name Gene Name - the full gene name approved by the HGNC.
Coproporphyrinogen oxidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPOX
Synonyms (NCBI Gene) Gene synonyms aliases
COX, CPO, CPX, HARPO, HCP
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612732 2321 ENSG00000080819
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Coproporphyria coproporphyria rs786205053, rs786205054, rs121917870, rs121917871, rs121917872, rs121917873, rs1559677768, rs2107113853 N/A
Harderoporphyria harderoporphyria rs121917868, rs587777271 N/A
Hereditary Coproporphyria hereditary coproporphyria rs1374394802, rs1576306536 N/A
coproporphyria Coproporphyria, digenic rs121917874 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Intermittent Porphyria acute intermittent porphyria N/A N/A ClinVar
Associations from Text Mining Disease 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