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 localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript varian... See more...

Aliases for CYP2A7 Gene

Aliases for CYP2A7 Gene

  • Cytochrome P450 Family 2 Subfamily A Member 7 2 3 5
  • Cytochrome P450, Subfamily IIA (Phenobarbital-Inducible), Polypeptide 7 2 3
  • Cytochrome P450, Family 2, Subfamily A, Polypeptide 7 2 3
  • Cytochrome P450 IIA4 3 4
  • Cytochrome P450 2A7 3 4
  • EC 1.14.14.1 4 51
  • CYPIIA7 3 4
  • CYP2A 2 3
  • Cytochrome P450IIA4 3
  • P450-IIA4 3
  • CYP2A7 5
  • CPA7 3
  • CPAD 3

External Ids for CYP2A7 Gene

Previous GeneCards Identifiers for CYP2A7 Gene

  • GC19M042020
  • GC19M041773
  • GC19M046002
  • GC19M046018
  • GC19M046020
  • GC19M046073
  • GC19M041350
  • GC19M041381

Summaries for CYP2A7 Gene

Entrez Gene Summary for CYP2A7 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 localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of 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 CYP2A7 Gene

CYP2A7 (Cytochrome P450 Family 2 Subfamily A Member 7) is a Protein Coding gene. Diseases associated with CYP2A7 include Distal Muscular Dystrophy With Anterior Tibial Onset. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. 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 CYP2A6.

UniProtKB/Swiss-Prot Summary for CYP2A7 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.

Gene Wiki entry for CYP2A7 Gene

Additional gene information for CYP2A7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP2A7 Gene

Genomics for CYP2A7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP2A7 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
GH19J040875 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 5.8 +10.3 10250 1 PRDM10 PATZ1 MGA KLF9 SP2 POLR2A KLF7 ZBTB17 MNT ZFHX2 lnc-CYP2A6-2 CYP2B7P CYP2G1P CYP2A7 CYP2A6 ENSG00000268797
GH19J040854 Enhancer 0.4 Ensembl 7.1 +30.8 30750 1.2 ZNF18 YY2 KDM1A CYP2A7 CYP2A6 lnc-CYP2A6-2 ENSG00000268797
GH19J040896 Enhancer 0.4 Ensembl 6.5 -10.4 -10350 0.2 ZNF785 ZNF155 ZNF548 ENSG00000269843 HNRNPUL1 SNRPA AKT2 ZNF780A CYP2A7 CYP2G1P LOC107985299 CYP2B6 ENSG00000268797
GH19J040919 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 0.3 -37.5 -37486 7.6 ZNF221 CREB1 GATAD2A PRDM10 ZNF629 TFE3 LEF1 IKZF1 NFKBIZ ZNF692 CYP2B7P CYP2B6 ZNF780B SNRPA HNRNPUL1 ENSG00000269843 CCDC97 ZNF780A COQ8B AKT2
GH19J040897 Enhancer 1.2 Ensembl ENCODE 0.4 -11.4 -11350 1.4 CREB1 GATAD2A ATF7 PRDM10 ZNF629 LEF1 IKZF1 NFKBIZ ZNF692 ZHX2 ZNF780B CYP2B7P CYP2G1P ZNF546 LOC107985299 CYP2A7 CYP2B6 ENSG00000268797
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP2A7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP2A7

Top Transcription factor binding sites by QIAGEN in the CYP2A7 gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • IRF-7A
  • SREBP-1a
  • SREBP-1b
  • STAT3
  • USF-1
  • USF1

Genomic Locations for CYP2A7 Gene

Genomic Locations for CYP2A7 Gene
chr19:40,875,439-40,885,951
(GRCh38/hg38)
Size:
10,513 bases
Orientation:
Minus strand
chr19:41,381,344-41,388,657
(GRCh37/hg19)
Size:
7,314 bases
Orientation:
Minus strand

Genomic View for CYP2A7 Gene

Genes around CYP2A7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP2A7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP2A7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP2A7 Gene

Proteins for CYP2A7 Gene

  • Protein details for CYP2A7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20853-CP2A7_HUMAN
    Recommended name:
    Cytochrome P450 2A7
    Protein Accession:
    P20853
    Secondary Accessions:
    • Q13121

    Protein attributes for CYP2A7 Gene

    Size:
    494 amino acids
    Molecular mass:
    56425 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP2A7 Gene

Selected DME Specific Peptides for CYP2A7 Gene

P20853:
  • EIDRVIG
  • DFIAKKVE
  • IDPTFFLSRTVSNVISS
  • EEFSGRG
  • SVMKHLPG
  • LGPRRVVVL
  • LLLMKHP
  • PGPTPLP
  • NQRTLDPNSP
  • AVIHEIQR
  • FIDSFLI
  • EALVDQAE
  • PKGTEVFP
  • GERAKQL
  • PFSIGKR
  • GEGLARME
  • LPFIGNY
  • GKLPPGP
  • EERIQEE
  • DRTKMPY
  • TLRYGFLL

Post-translational modifications for CYP2A7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP2A7 Gene

Domains & Families for CYP2A7 Gene

Gene Families for CYP2A7 Gene

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

Protein Domains for CYP2A7 Gene

InterPro:
Blocks:
  • E-class P450 group I signature
  • CYP2A P450 family signature
ProtoNet:

Suggested Antigen Peptide Sequences for CYP2A7 Gene

GenScript: Design optimal peptide antigens:
  • CYP2A7 protein (B7ZKR0_HUMAN)
  • Cytochrome P450 IIA4 (CP2A7_HUMAN)
  • Cytochrome P450, family 2, subfamily A, polypeptide 7 (Q17RW7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20853

UniProtKB/Swiss-Prot:

CP2A7_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP2A7: view

Function for CYP2A7 Gene

Molecular function for CYP2A7 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an organic molecule + O2 + reduced [NADPH--hemoprotein reductase] = an alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:17149, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:30879, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:142491; EC=1.14.14.1;.
UniProtKB/Swiss-Prot Induction:
P450 can be induced to high levels in liver and other tissues by various foreign compounds, including drugs, pesticides, and carcinogens.
GENATLAS Biochemistry:
cytochrome P450,subfamily IIA (phenobarbital-inducible),polypeptide 7

Enzyme Numbers (IUBMB) for CYP2A7 Gene

Phenotypes From GWAS Catalog for CYP2A7 Gene

Gene Ontology (GO) - Molecular Function for CYP2A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0008392 arachidonic acid epoxygenase activity IBA 21873635
GO:0008395 steroid hydroxylase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYP2A7: view
genes like me logo Genes that share phenotypes with CYP2A7: view

Animal Models for CYP2A7 Gene

MGI Knock Outs for CYP2A7:

Animal Model Products

CRISPR Products

miRNA for CYP2A7 Gene

miRTarBase miRNAs that target CYP2A7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2A7

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYP2A7 Gene

Localization for CYP2A7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP2A7 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 CYP2A7 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
mitochondrion 2
nucleus 2
golgi apparatus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CYP2A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYP2A7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP2A7 Gene

Pathways & Interactions for CYP2A7 Gene

genes like me logo Genes that share pathways with CYP2A7: view

Pathways by source for CYP2A7 Gene

Gene Ontology (GO) - Biological Process for CYP2A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006082 organic acid metabolic process IBA 21873635
GO:0006805 xenobiotic metabolic process IBA 21873635
GO:0009804 coumarin metabolic process IBA 21873635
GO:0019373 epoxygenase P450 pathway IBA 21873635
GO:0042738 exogenous drug catabolic process IBA 21873635
genes like me logo Genes that share ontologies with CYP2A7: view

No data available for SIGNOR curated interactions for CYP2A7 Gene

Drugs & Compounds for CYP2A7 Gene

(23) Drugs for CYP2A7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Pharma Antagonist, Activator 603
Citalopram Approved Pharma 597
Codeine Approved, Illicit Pharma Agonist, Full agonist 94
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1113
Estrone Approved Pharma Agonist Estrogenic hormone 22

(20) Additional Compounds for CYP2A7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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-EpETrE
  • (+/-)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
11,14,15-THETA
  • 11,14,15-Trihydroxyicosatrienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,14,15-Trihydroxyicosatrienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoate
11H-14,15-EETA
  • 11-Hydroxy-14,15-eeta
  • 11-Hydroxy-14,15-epoxyeicosatrienoic acid
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyicosa-5,8,12-trienoic acid
  • 11-Hydroxy-14,15-epoxyeicosatrienoate
219535-29-2
12,13-EpOME
  • (9Z)-11-(3-Pentyloxiran-2-yl)undec-9-enoic acids
  • (9Z)-12,13-Epoxyoctadecenoic acid
  • 12(13)-EpOME
  • 12,13-cis-Epoxyoctadecenoic acid
  • 12,13-Epoxy-9(Z)-octadecenoic acid
genes like me logo Genes that share compounds with CYP2A7: view

Transcripts for CYP2A7 Gene

mRNA/cDNA for CYP2A7 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2A7

Alternative Splicing Database (ASD) splice patterns (SP) for CYP2A7 Gene

No ASD Table

Relevant External Links for CYP2A7 Gene

GeneLoc Exon Structure for
CYP2A7

Expression for CYP2A7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP2A7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP2A7 Gene

This gene is overexpressed in Liver (x50.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP2A7

SOURCE GeneReport for Unigene cluster for CYP2A7 Gene:

Hs.719890

Evidence on tissue expression from TISSUES for CYP2A7 Gene

  • Liver(5)
genes like me logo Genes that share expression patterns with CYP2A7: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP2A7 Gene

Orthologs for CYP2A7 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP2A7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYP2A7 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CYP2A13 31 31
  • 87 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 87 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Cyp2a5 30 17 31
  • 84.55 (n)
ManyToMany
Cyp2a4 17 31
  • 82 (a)
ManyToMany
Cyp2a12 31
  • 71 (a)
ManyToMany
Cyp2a22 31
  • 71 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Cyp2a3 30
  • 83.99 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 58 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 59 (a)
ManyToMany
-- 31
  • 58 (a)
ManyToMany
-- 31
  • 58 (a)
ManyToMany
-- 31
  • 58 (a)
ManyToMany
-- 31
  • 57 (a)
ManyToMany
-- 31
  • 56 (a)
ManyToMany
-- 31
  • 56 (a)
ManyToMany
-- 31
  • 55 (a)
ManyToMany
-- 31
  • 54 (a)
ManyToMany
-- 31
  • 54 (a)
ManyToMany
-- 31
  • 54 (a)
ManyToMany
-- 31
  • 53 (a)
ManyToMany
-- 31
  • 53 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC548374 30
  • 58.59 (n)
Worm
(Caenorhabditis elegans)
Secernentea cyp-36A1 30
  • 43.65 (n)
K09A11.3 32
  • 34 (a)
C34B7.3 32
  • 33 (a)
C50H11.15 32
  • 33 (a)
K05D4.4 32
  • 33 (a)
K09A11.4 32
  • 33 (a)
F42A9.5 32
  • 32 (a)
K09A11.2 32
  • 32 (a)
B0213.15 32
  • 31 (a)
C49C8.4 32
  • 31 (a)
F41B5.2 32
  • 31 (a)
F41B5.3 32
  • 31 (a)
R08F11.3 32
  • 31 (a)
T10H4.10 32
  • 31 (a)
B0213.11 32
  • 30 (a)
B0213.14 32
  • 30 (a)
B0304.3 32
  • 30 (a)
C03G6.15 32
  • 30 (a)
C45H4.17 32
  • 30 (a)
K07C6.5 32
  • 30 (a)
T10H4.11 32
  • 30 (a)
B0213.12 32
  • 30 (a)
B0213.16 32
  • 30 (a)
F14H3.10 32
  • 29 (a)
K07C6.2 32
  • 29 (a)
K07C6.3 32
  • 29 (a)
C45H4.2 32
  • 29 (a)
B0213.10 32
  • 28 (a)
C03G6.14 32
  • 28 (a)
C49G7.8 32
  • 28 (a)
F41B5.7 32
  • 28 (a)
K09D9.2 32
  • 28 (a)
Y5H2B.6 32
  • 28 (a)
C41G6.1 32
  • 27 (a)
C25E10.2 32
  • 26 (a)
T09H2.1 32
  • 26 (a)
K07C6.4 32
  • 26 (a)
Species where no ortholog for CYP2A7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (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)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for CYP2A7 Gene

ENSEMBL:
Gene Tree for CYP2A7 (if available)
TreeFam:
Gene Tree for CYP2A7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP2A7: view image

Paralogs for CYP2A7 Gene

(29) SIMAP similar genes for CYP2A7 Gene using alignment to 5 proteins:

  • CP2A7_HUMAN
  • B7ZKR0_HUMAN
  • F8W816_HUMAN
  • M0R020_HUMAN
  • Q17RW7_HUMAN
genes like me logo Genes that share paralogs with CYP2A7: view

Variants for CYP2A7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP2A7 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
734245 Benign: not provided 40,882,202(-) G/C SYNONYMOUS_VARIANT
768994 Benign: not provided 40,875,742(-) A/C MISSENSE_VARIANT
768995 Benign: not provided 40,877,236(-) C/T MISSENSE_VARIANT
768996 Benign: not provided 40,880,515(-) A/C MISSENSE_VARIANT
768997 Benign: not provided 40,880,575(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CYP2A7 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYP2A7 Gene

Variant ID Type Subtype PubMed ID
dgv1046e212 CNV gain 25503493
dgv1047e212 CNV loss 25503493
dgv1049e212 CNV loss 25503493
dgv1051e212 CNV gain 25503493
dgv142n111 CNV deletion 26073780
dgv3539n100 CNV loss 25217958
dgv3540n100 CNV gain 25217958
dgv522e201 CNV deletion 23290073
dgv643e199 CNV deletion 23128226
dgv6442n54 CNV loss 21841781
dgv6446n54 CNV loss 21841781
dgv6448n54 CNV gain+loss 21841781
dgv6449n54 CNV gain 21841781
dgv6450n54 CNV loss 21841781
dgv6451n54 CNV gain+loss 21841781
dgv6452n54 CNV gain 21841781
esv1001236 CNV deletion 20482838
esv1005181 CNV gain 20482838
esv21610 CNV gain+loss 19812545
esv2718568 CNV deletion 23290073
esv2718569 CNV deletion 23290073
esv2718570 CNV deletion 23290073
esv2758762 CNV gain+loss 17122850
esv2760509 CNV gain+loss 21179565
esv33053 CNV gain 17666407
esv3556401 CNV deletion 23714750
esv3644361 CNV loss 21293372
esv3893202 CNV gain+loss 25118596
nsv1056244 CNV gain 25217958
nsv1065886 CNV loss 25217958
nsv1066637 CNV gain 25217958
nsv1125310 OTHER inversion 24896259
nsv1160625 CNV deletion 26073780
nsv435697 CNV deletion 17901297
nsv511622 CNV loss 21212237
nsv579545 CNV gain 21841781
nsv579590 CNV loss 21841781
nsv963050 CNV duplication 23825009
nsv9729 CNV loss 18304495
nsv978816 CNV duplication 23825009

Variation tolerance for CYP2A7 Gene

Residual Variation Intolerance Score: 99.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.84; 91.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP2A7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2A7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2A7 Gene

Disorders for CYP2A7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CYP2A7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
distal muscular dystrophy with anterior tibial onset
  • dmat
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYP2A7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CYP2A7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYP2A7 Gene

Publications for CYP2A7 Gene

  1. A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles. (PMID: 7668294) Fernandez-Salguero P … Idle JR (American journal of human genetics 1995) 2 3 4 23
  2. Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity. (PMID: 12325023) Oscarson M … Ingelman-Sundberg M (Human mutation 2002) 3 23 41
  3. Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants. (PMID: 15128046) Nelson DR … Nebert DW (Pharmacogenetics 2004) 2 3
  4. Expression of CYP2A genes in human liver and extrahepatic tissues. (PMID: 10353262) Koskela S … Raunio H (Biochemical pharmacology 1999) 3 23
  5. Expression and alternative splicing of the cytochrome P-450 CYP2A7. (PMID: 7864805) Ding S … Wolf CR (The Biochemical journal 1995) 3 23

Products for CYP2A7 Gene

Sources for CYP2A7 Gene