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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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 21873635
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005739 Component Mitochondrion IDA
GO:0005758 Component Mitochondrial intermembrane space IBA 21873635
GO:0005758 Component Mitochondrial intermembrane space TAS
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic, Congenital rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Coproporphyria Coproporphyria rs2107113853, rs786205053, rs786205054, rs121917870, rs121917871, rs121917872, rs121917873, rs1559677768, rs121917874
Harderoporphyria Harderoporphyria rs121917868, rs587777271
Hereditary coproporphyria Hereditary Coproporphyria, Hereditary coproporphyria rs1576306536, rs1374394802 9048920, 11831056, 8990017, 27604308, 9298818, 9888388, 16398658, 8012360, 15896662, 7849704, 7757079, 12181641
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Associations from Text Mining
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