CYP2C8 (cytochrome P450 family 2 subfamily C member 8)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1558
Gene name Cytochrome P450 family 2 subfamily C member 8
Gene symbol CYP2C8
Synonyms (NCBI Gene)
CPC8CYP2C8DMCYPIIC8MP-12/MP-20
Chromosome 10
Chromosome location 10q23.33
Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein local
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs10509681 T>C Drug-response, benign Missense variant, coding sequence variant
rs72558196 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT006955 hsa-miR-103a-3p qRT-PCRWestern blot 22723340
MIRT006956 hsa-miR-107 qRT-PCRWestern blot 22723340
MIRT921351 hsa-miR-1 CLIP-seq
MIRT921352 hsa-miR-1257 CLIP-seq
MIRT921353 hsa-miR-206 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
HNF4A Activation 20086032
NR1I2 Unknown 18096673
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002933 Process Lipid hydroxylation IDA 14559847
GO:0004497 Function Monooxygenase activity IDA 15766564, 19651758
GO:0004497 Function Monooxygenase activity IEA
GO:0004497 Function Monooxygenase activity TAS
GO:0005506 Function Iron ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601129 2622 ENSG00000138115
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10632
Protein name Cytochrome P450 2C8 (EC 1.14.14.1) (CYPIIC8) (Cytochrome P450 IIC2) (Cytochrome P450 MP-12) (Cytochrome P450 MP-20) (Cytochrome P450 form 1) (S-mephenytoin 4-hydroxylase)
Protein function A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:11093772, PubMed:14559847, PubMed:15766564, PubMed:19965576, PubMed:7574697). Mechanistical
PDB 1PQ2 , 2NNH , 2NNI , 2NNJ , 2VN0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 30 → 487 Cytochrome P450 Domain
Sequence
Sequence length 490
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Arachidonic acid metabolism
Linoleic acid metabolism
Retinol metabolism
Drug metabolism - cytochrome P450
Metabolic pathways
Serotonergic synapse
Chemical carcinogenesis - DNA adducts
Lipid and atherosclerosis 		  Xenobiotics
CYP2E1 reactions
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
Biosynthesis of maresin-like SPMs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways 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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
DRUG METABOLISM, ALTERED, CYP2C8-RELATED Pathogenic rs72558196 RCV000008922
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (17)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYP2C8 POLYMORPHISM Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (83)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Anemia BEFREE 21107304, 25495407
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 21107304, 24681964 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 25640739 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17429317
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASCAT_DG 22179738
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 27648490
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 17429317
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22527101, 23413280, 24088129, 25406731, 27736846, 28447211
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19935798, 21402692, 22527101, 23413280, 25406731 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27203676, 29479826, 30148168, 30628708, 30720105, 30971588, 39193514 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only