CYP2A7 cytochrome P450 family 2 subfamily A member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP2A7provided by HGNC
Official Full Name: cytochrome P450 family 2 subfamily A member 7provided by HGNC
Primary source: HGNC:HGNC:2611
See related: Ensembl:ENSG00000198077 MIM:608054; AllianceGenome:HGNC:2611
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4
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 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]
Expression: Restricted expression toward liver (RPKM 27.5) See more
Orthologs: all
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Genomic context

Location:: 19q13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (40875439..40882231, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (43696148..43702882, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41381344..41388136, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Single nucleotide polymorphism in CYP2A7 gene is associated with smoking in whites with Chronic Obstructive Pulmonary Disease.
Title: Common and Rare Variants Genetic Association Analysis of Cigarettes per Day Among Ever-Smokers in Chronic Obstructive Pulmonary Disease Cases and Controls.
CNV deletion at the CYP2A7 is associated with decreased ovarian cancer risk in BRCA1 carriers.
Title: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
CYP2A7 affects CYP2A6 expression by competing for miR-126* binding.
Title: CYP2A7 pseudogene transcript affects CYP2A6 expression in human liver by acting as a decoy for miR-126.
Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
Title: CYP2A7 polymorphic alleles confound the genotyping of CYP2A6*4A allele.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity.
CYP2A6/2A7 and CYP2E1 expression in human oesophageal mucosa: regional and inter-individual variation in expression and relevance to nitrosamine metabolism
Title: CYP2A6/2A7 and CYP2E1 expression in human oesophageal mucosa: regional and inter-individual variation in expression and relevance to nitrosamine metabolism.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11626 (e-PCR)
- UniSTS:33821

NoName (e-PCR)
- UniSTS:483110

DXS7515 (e-PCR)
- UniSTS:43140

NoName (e-PCR)
- UniSTS:483805

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables arachidonate epoxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in coumarin metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in epoxygenase P450 pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in xenobiotic metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytochrome P450 2A7

Names: cytochrome P450 IIA4; cytochrome P450, family 2, subfamily A, polypeptide 7; cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7; cytochrome P450IIA4

NP_000755.2

EC 1.14.14.1

NP_085079.2

EC 1.14.14.1

XP_047294235.1

EC 1.14.14.1

XP_054175989.1

EC 1.14.14.1

XP_054175990.1

EC 1.14.14.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007960.1 RefSeqGene

Range

5001..12314

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000764.3 → NP_000755.2 cytochrome P450 2A7 isoform 1

See identical proteins and their annotated locations for NP_000755.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC008537

Consensus CDS

CCDS12569.1

UniProtKB/Swiss-Prot

P20853, Q13121

UniProtKB/TrEMBL

B7ZKR0

Related

ENSP00000301146.4, ENST00000301146.9

Conserved Domains (1) summary

pfam00067
Location:34 → 491

p450; Cytochrome P450
NM_030589.3 → NP_085079.2 cytochrome P450 2A7 isoform 2

See identical proteins and their annotated locations for NP_085079.2

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as CYP2A7AS) lacks exon 2 within the coding region and includes 10 nt from intron 1, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. This variant lacks publicly available transcript support but it is supported by data in PubMedID:7864805.

Source sequence(s)

AC008537

UniProtKB/TrEMBL

B7ZKR0, F8W816, Q17RW7

Related

ENSP00000291764.3, ENST00000291764.3

Conserved Domains (1) summary

pfam00067
Location:34 → 440

p450; Cytochrome P450