Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CYP2B6 Gene

Aliases for CYP2B6 Gene

  • Cytochrome P450 Family 2 Subfamily B Member 6 2 3 5
  • Cytochrome P450, Subfamily IIB (Phenobarbital-Inducible), Polypeptide 6 2 3
  • Cytochrome P450, Family 2, Subfamily B, Polypeptide 6 2 3
  • 1,4-Cineole 2-Exo-Monooxygenase 3 4
  • Cytochrome P450 IIB1 3 4
  • CYPIIB6 3 4
  • Cytochrome P450, Subfamily IIB (Phenobarbital-Inducible) 2
  • Cytochrome P450, Family 2, Subfamily B 2
  • Cytochrome P450 2B6 3
  • EC 1.14.13.- 4
  • CYP2B7P 3
  • CYP2B7 3
  • CYP2B 3
  • CPB6 3
  • EFVM 3
  • IIB1 3
  • P450 3

External Ids for CYP2B6 Gene

Previous HGNC Symbols for CYP2B6 Gene

  • CYP2B

Previous GeneCards Identifiers for CYP2B6 Gene

  • GC19P042136
  • GC19P041888
  • GC19P046107
  • GC19P046123
  • GC19P046127
  • GC19P046189
  • GC19P041497
  • GC19P037929

Summaries for CYP2B6 Gene

Entrez Gene Summary for CYP2B6 Gene

  • This gene, CYP2B6, 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 localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP2B6 Gene

CYP2B6 (Cytochrome P450 Family 2 Subfamily B Member 6) is a Protein Coding gene. Diseases associated with CYP2B6 include Efavirenz, Poor Metabolism Of and Acute Frontal Sinusitis. Among its related pathways are Cytochrome P450 - arranged by substrate type and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP2A13.

UniProtKB/Swiss-Prot for CYP2B6 Gene

  • Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,4-cineole 2-exo-monooxygenase.

Gene Wiki entry for CYP2B6 Gene

PharmGKB "VIP" Summary for CYP2B6 Gene

Additional gene information for CYP2B6 Gene

No data available for CIViC summary , Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for CYP2B6 Gene

Genomics for CYP2B6 Gene

GeneHancer (GH) Regulatory Elements for CYP2B6 Gene

Promoters and enhancers for CYP2B6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J040919 Promoter/Enhancer 1.8 EPDnew ENCODE dbSUPER 650.2 -67.8 -67792 7.6 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF416 SP3 ZC3H11A SSRP1 CYP2B7P CYP2B6 SNRPA ZNF780B HNRNPUL1 ENSG00000269843 ZNF780A CCDC97 AKT2 COQ8B
GH19J040991 Promoter 0.9 EPDnew 650.7 +0.0 36 0.1 KLF1 FOXA2 TAF1 RXRA MAX REST FOXA1 NR2F2 YY1 SP1 CYP2B6 CYP2A7P1
GH19J040747 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.6 -238.5 -238468 9.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF416 SNRPA C19orf54 HNRNPUL1 ENSG00000269843 CCDC97 COQ8B ZNF780A AKT2 FBL ZNF780B
GH19J040979 Enhancer 0.8 ENCODE 5.2 -10.1 -10081 4.3 FOXA2 PKNOX1 ZSCAN4 RAD21 YY1 EGR1 ZSCAN5C SCRT2 ZNF350 ATF7 SNRPA HNRNPUL1 ENSG00000269843 CCDC97 COQ8B ZNF780A CYP2B7P CYP2B6 ENSG00000269353
GH19J040713 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.1 -272.9 -272881 9.2 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 ITPKC NUMBL COQ8B SNRPA HNRNPUL1 ENSG00000269843 CCDC97 ZNF780B FBL AKT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYP2B6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP2B6 gene promoter:
  • TBP
  • TFIID
  • GR-alpha
  • GR
  • ATF
  • c-Ets-1
  • MRF-2
  • NF-kappaB1
  • NF-kappaB

Genomic Locations for CYP2B6 Gene

Genomic Locations for CYP2B6 Gene
chr19:40,991,229-41,018,398
(GRCh38/hg38)
Size:
27,170 bases
Orientation:
Plus strand
chr19:41,497,204-41,524,303
(GRCh37/hg19)
Size:
27,100 bases
Orientation:
Plus strand

Genomic View for CYP2B6 Gene

Genes around CYP2B6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP2B6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP2B6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP2B6 Gene

Proteins for CYP2B6 Gene

  • Protein details for CYP2B6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20813-CP2B6_HUMAN
    Recommended name:
    Cytochrome P450 2B6
    Protein Accession:
    P20813
    Secondary Accessions:
    • B4DWP3
    • Q2V565
    • Q9UK46

    Protein attributes for CYP2B6 Gene

    Size:
    491 amino acids
    Molecular mass:
    56278 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP2B6 Gene

    Alternative splice isoforms for CYP2B6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP2B6 Gene

Post-translational modifications for CYP2B6 Gene

  • Phosphorylation is accompanied by a decrease in enzyme activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP2B6 Gene

No data available for DME Specific Peptides for CYP2B6 Gene

Domains & Families for CYP2B6 Gene

Gene Families for CYP2B6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P20813

UniProtKB/Swiss-Prot:

CP2B6_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP2B6: view

Function for CYP2B6 Gene

Molecular function for CYP2B6 Gene

UniProtKB/Swiss-Prot Function:
Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,4-cineole 2-exo-monooxygenase.
UniProtKB/Swiss-Prot CatalyticActivity:
1,4-cineole + NADPH + O(2) = 2-exo-hydroxy-1,4-cineole + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=360 uM for 1,4-cineole {ECO:0000269 PubMed:11695850}; Vmax=3.4 nmol/min/nmol enzyme toward 2-exo-hydroxy-1,4-cineole {ECO:0000269 PubMed:11695850};
UniProtKB/Swiss-Prot Induction:
By phenobarbital.

Enzyme Numbers (IUBMB) for CYP2B6 Gene

Phenotypes From GWAS Catalog for CYP2B6 Gene

Gene Ontology (GO) - Molecular Function for CYP2B6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IDA 19651758
GO:0005506 iron ion binding IEA --
GO:0008392 arachidonic acid epoxygenase activity IBA --
GO:0008395 steroid hydroxylase activity IBA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYP2B6: view
genes like me logo Genes that share phenotypes with CYP2B6: view

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYP2B6 Gene

Localization for CYP2B6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP2B6 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP2B6 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 3
plasma membrane 2
extracellular 2
peroxisome 2
nucleus 2
cytosol 2
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYP2B6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with CYP2B6: view

Pathways & Interactions for CYP2B6 Gene

genes like me logo Genes that share pathways with CYP2B6: view

Gene Ontology (GO) - Biological Process for CYP2B6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006082 organic acid metabolic process IBA --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008202 steroid metabolic process IMP 18356043
GO:0017144 drug metabolic process IMP 18356043
GO:0019373 epoxygenase P450 pathway IBA --
genes like me logo Genes that share ontologies with CYP2B6: view

No data available for SIGNOR curated interactions for CYP2B6 Gene

Drugs & Compounds for CYP2B6 Gene

(284) Drugs for CYP2B6 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bupropion Approved Pharma Enzyme, substrate, inhibitor 344
Efavirenz Approved, Investigational Pharma Enzyme, substrate, inhibitor, inducer Reverse transcriptase inhibitor 420
Nevirapine Approved Pharma Enzyme, substrate, inducer 224
Propofol Approved, Investigational, Vet_approved Pharma Enzyme, substrate 1189
Clopidogrel Approved Pharma Enzyme, substrate, inhibitor P2Y12 receptor antagonist 814

(86) Additional Compounds for CYP2B6 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Hydroxycyclophosphamide
  • tetrahydro-2-(Bis(2-chloroethyl)amino)-2H-1,3,2-oxazaphosphorin-4-ol 2-oxide
  • 4-Hydroxycyclophosphamide, (cis)-isomer
  • 4-Hydroxycyclophosphamide, (trans)-isomer
40277-05-2
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
parathion
  • Diethyl P-nitrophenyl thiophosphate
  • Diethyl parathion
  • DNTP
  • Ethyl parathion
  • O,O-Diethyl O-(4-nitrophenyl) thiophosphate
56-38-2
11,12,15-THETA
  • 11,12,15-Trihydroxyicosatrienoic acid
  • (5Z,8Z,13E)-(15S)-11,12,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,13E)-(15S)-11,12,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,12,15-Trihydroxyicosatrienoate
  • (5Z,8Z,13E)-(15S)-11,12,15-Trihydroxyeicosa-5,8,12-trienoate
11,12-Epoxyeicosatrienoic acid
  • (+/-)11(12)-eet
  • (+/-)11(12)-epetre
  • (+/-)11,12-epetre
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoic acid
81276-02-0

(1) ApexBio Compounds for CYP2B6 Gene

Compound Action Cas Number
ABT 1614-12-6
genes like me logo Genes that share compounds with CYP2B6: view

Drug Products

Transcripts for CYP2B6 Gene

mRNA/cDNA for CYP2B6 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(44) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP2B6 Gene

Cytochrome P450, family 2, subfamily B, polypeptide 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP2B6 Gene

No ASD Table

Relevant External Links for CYP2B6 Gene

GeneLoc Exon Structure for
CYP2B6
ECgene alternative splicing isoforms for
CYP2B6

Expression for CYP2B6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP2B6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP2B6 Gene

This gene is overexpressed in Liver (x50.3).

Protein differential expression in normal tissues from HIPED for CYP2B6 Gene

This gene is overexpressed in Gallbladder (52.5) and Liver (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP2B6 Gene



Protein tissue co-expression partners for CYP2B6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP2B6 Gene:

CYP2B6

SOURCE GeneReport for Unigene cluster for CYP2B6 Gene:

Hs.1360

mRNA Expression by UniProt/SwissProt for CYP2B6 Gene:

P20813-CP2B6_HUMAN
Tissue specificity: Expressed in liver, lung and heart right ventricle.

Evidence on tissue expression from TISSUES for CYP2B6 Gene

  • Liver(4.9)
  • Intestine(4.5)
  • Lung(3.2)
  • Kidney(2.9)
  • Adrenal gland(2.8)
  • Blood(2.5)
  • Nervous system(2.5)
  • Heart(2.3)
  • Skin(2.1)
  • Stomach(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with CYP2B6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP2B6 Gene

Orthologs for CYP2B6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP2B6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC456052 33
  • 95.97 (n)
CYP2B6 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CYP2B6 34 33
  • 83.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CYP2B6 34 33
  • 83.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp2b10 16 34 33
  • 79.41 (n)
Cyp2b19 34
  • 75 (a)
OneToMany
Cyp2b23 34
  • 75 (a)
OneToMany
Cyp2b9 34
  • 72 (a)
OneToMany
Cyp2b13 34
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cyp2b1 33
  • 79.03 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 70 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Cyp18a1 35
  • 32 (a)
Cyp303a1 35
  • 31 (a)
Cyp305a1 35
  • 29 (a)
Cyp304a1 35
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea C50H11.15 35
  • 34 (a)
F41B5.4 35
  • 33 (a)
C12D5.7 35
  • 33 (a)
C45H4.2 35
  • 33 (a)
R08F11.3 35
  • 33 (a)
C45H4.17 35
  • 33 (a)
C41G6.1 35
  • 32 (a)
Y49C4A.9 35
  • 32 (a)
B0304.3 35
  • 32 (a)
F44C8.1 35
  • 32 (a)
B0213.12 35
  • 32 (a)
B0213.14 35
  • 31 (a)
T10H4.11 35
  • 31 (a)
Y5H2B.6 35
  • 31 (a)
F41B5.2 35
  • 31 (a)
K05D4.4 35
  • 31 (a)
C49G7.8 35
  • 30 (a)
B0213.10 35
  • 30 (a)
B0213.16 35
  • 30 (a)
B0213.15 35
  • 30 (a)
B0213.11 35
  • 30 (a)
K07C6.3 35
  • 30 (a)
T10H4.10 35
  • 30 (a)
K07C6.5 35
  • 29 (a)
C03G6.15 35
  • 29 (a)
T09H2.1 35
  • 29 (a)
K09D9.2 35
  • 29 (a)
F14H3.10 35
  • 29 (a)
K07C6.2 35
  • 28 (a)
Species where no ortholog for CYP2B6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for CYP2B6 Gene

ENSEMBL:
Gene Tree for CYP2B6 (if available)
TreeFam:
Gene Tree for CYP2B6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP2B6: view image

Paralogs for CYP2B6 Gene

(28) SIMAP similar genes for CYP2B6 Gene using alignment to 8 proteins:

  • CP2B6_HUMAN
  • B4DWP3_HUMAN
  • F2X1A7_HUMAN
  • F2X1B0_HUMAN
  • M0QZJ2_HUMAN
  • Q6NWU1_HUMAN
  • Q6NWU2_HUMAN
  • Q9UNX8_HUMAN

Pseudogenes.org Pseudogenes for CYP2B6 Gene

genes like me logo Genes that share paralogs with CYP2B6: view

Variants for CYP2B6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2B6 Gene

CP2B6_HUMAN-P20813
Genetic variations in CYP2B6 are responsible for poor metabolism of efavirenz and, therefore, susceptibility to efavirenz toxicity in the central nervous system [MIM:614546]. Efavirenz is a non-nucleoside reverse transcriptase inhibitor frequently prescribed with 2 nucleoside reverse transcriptase inhibitors as initial therapy for human immunodeficiency virus (HIV) infection. Up to half of patients treated with efavirenz, experience side effects in the central nervous system, including dizziness, insomnia, impaired concentration, somnolence, and abnormal dreams. Severe depression, aggressive behavior, and paranoid or manic reactions may also occur, depending on efavirenz concentration in the plasma.

Sequence variations from dbSNP and Humsavar for CYP2B6 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs139801276 drug-response, Efavirenz response 41,004,303(+) T/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs186335453 drug-response, Efavirenz response 41,004,158(+) G/C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs2279343 drug-response, Efavirenz response, efavirenz response - Metabolism/PK 41,009,358(+) A/G coding_sequence_variant, intron_variant, missense_variant
rs2279345 drug-response, efavirenz response - Metabolism/PK 41,009,797(+) T/C intron_variant
rs281864907 drug-response, Efavirenz response 41,004,015(+) T/A coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CYP2B6 Gene

Variant ID Type Subtype PubMed ID
nsv963136 CNV duplication 23825009
nsv523686 CNV gain 19592680
nsv517597 CNV loss 19592680
nsv509743 CNV insertion 20534489
nsv470142 CNV gain 18288195
nsv470141 CNV loss 18288195
nsv442461 CNV loss 18776908
nsv433319 CNV loss 18776910
nsv1160626 CNV deletion 26073780
nsv1125483 CNV deletion 24896259
nsv1125310 OTHER inversion 24896259
nsv1066637 CNV gain 25217958
nsv1065684 CNV gain 25217958
nsv1064140 CNV gain+loss 25217958
nsv1058772 CNV gain 25217958
nsv1058051 CNV gain 25217958
esv3893208 CNV gain 25118596
esv3644370 CNV loss 21293372
esv3584954 CNV gain 24956385
esv2760505 CNV gain+loss 21179565
esv2758762 CNV gain+loss 17122850
esv2718572 CNV deletion 23290073
esv2718571 CNV deletion 23290073
esv2658055 CNV deletion 23128226
esv2597443 CNV loss 19546169
esv24009 CNV gain 19812545
dgv6453n54 CNV loss 21841781
dgv55n17 CNV loss 16327808
dgv408n27 CNV loss 19166990
dgv3546n100 CNV gain 25217958
dgv3545n100 CNV loss 25217958

Variation tolerance for CYP2B6 Gene

Residual Variation Intolerance Score: 99.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.02; 68.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP2B6 Gene

Human Gene Mutation Database (HGMD)
CYP2B6
The Human Cytochrome P450 Allele Nomenclature Database
CYP2B6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2B6

Disorders for CYP2B6 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CYP2B6 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
efavirenz, poor metabolism of
  • efavirenz central nervous system toxicity, susceptibility to
acute frontal sinusitis
neonatal abstinence syndrome
  • drug withdrawal syndrome in newborn
retinitis pigmentosa 56
  • rp56
femoral neuropathy
  • femoral nerve dysfunction
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYP2B6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CYP2B6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYP2B6 Gene

Publications for CYP2B6 Gene

  1. Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study. (PMID: 15622315) Haas DW … Acosta EP (AIDS (London, England) 2004) 3 4 22 44 58
  2. The influence of cytochrome oxidase CYP2A6, CYP2B6, and CYP2C9 polymorphisms on the plasma concentrations of valproic acid in epileptic patients. (PMID: 20089352) Tan L … Yu Y (Clinical neurology and neurosurgery 2010) 3 22 44 58
  3. Influence of host genetic factors on efavirenz plasma and intracellular pharmacokinetics in HIV-1-infected patients. (PMID: 20860463) Elens L … Haufroid V (Pharmacogenomics 2010) 3 4 44 58
  4. Haplotype structure of CYP2B6 and association with plasma efavirenz concentrations in a Chilean HIV cohort. (PMID: 20639527) Carr DF … Cortes CP (The Journal of antimicrobial chemotherapy 2010) 3 4 44 58
  5. CYP2B6 (c.516G-->T) and CYP2A6 (*9B and/or *17) polymorphisms are independent predictors of efavirenz plasma concentrations in HIV-infected patients. (PMID: 19371316) Kwara A … Court MH (British journal of clinical pharmacology 2009) 3 22 44 58

Products for CYP2B6 Gene