Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1558 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Cytochrome P450 family 2 subfamily C member 8 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
CYP2C8 |
SynonymsGene synonyms aliases
|
CPC8, CYP2C8DM, CYPIIC8, MP-12/MP-20 |
ChromosomeChromosome number
|
10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10q23.33 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 |
SNPsSNP information provided by dbSNP.
|
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 |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
HNF4A |
Activation |
20086032 |
NR1I2 |
Unknown |
18096673 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
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Protein
|
UniProt ID |
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 |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Kidney disease |
Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
18769365 |
Lymphoblastic leukemia |
Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 |
22674224 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Gout |
Gout |
|
22179738 |
Gouty arthritis |
Arthritis, Gouty |
|
22179738 |
Liver carcinoma |
Liver carcinoma |
|
28284560 |
Nervous system diseases |
Peripheral Nervous System Diseases |
|
27736846 |
Nervous system disorder |
nervous system disorder |
|
21245421 |
|