U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC110673974 CYP2A6 5' regulatory region [ Homo sapiens (human) ]

Gene ID: 110673974, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC110673974
Gene description
CYP2A6 5' regulatory region
Gene type
biological region
Feature type(s)
misc_feature: sequence_alteration
protein_bind
regulatory: TATA_box, enhancer, promoter
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This record represents the 5' regulatory region of the cytochrome P450 family 2 subfamily A member 6 (CYP2A6) gene, and includes the proximal promoter and a more distal enhancer that contains binding sites for nuclear receptor subfamily 1 group I family members. This region is induced by association of hepatocyte nuclear factor 4 alpha, estrogen receptor 1, nuclear factor, erythroid 2 like 2, and tumor protein p53. Naturally-occurring polymorphisms in this region, including rs28399433, rs4803381, and rs61663607, may disrupt transcription factor binding sites and decrease promoter activity. [provided by RefSeq, Jul 2017]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC110673974 in Genome Data Viewer
Location:
chromosome: 19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40850426..40857190)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43671125..43677890)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41356331..41363095)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41314255-41314754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41317625-41318515 Neighboring gene cytochrome P450 family 2 subfamily T member 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14669 Neighboring gene cytochrome P450 family 2 subfamily F member 2, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41332287-41332788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41332789-41333288 Neighboring gene Sharpr-MPRA regulatory region 4763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41354211-41354710 Neighboring gene cytochrome P450 family 2 subfamily A member 6 Neighboring gene cytochrome P450 family 2 subfamily A member 7 Neighboring gene cytochrome P450 family 2 subfamily G member 1, pseudogene Neighboring gene Sharpr-MPRA regulatory region 12493

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Polymorphic NF-Y dependent regulation of human nicotine C-oxidase (CYP2A6). von Richter O, et al. Pharmacogenetics, 2004 Jun. PMID 15247629
  2. A nicotine C-oxidase gene (CYP2A6) polymorphism important for promoter activity. Pitarque M, et al. Hum Mutat, 2004 Mar. PMID 14974084
  3. Identification of a single nucleotide polymorphism in the TATA box of the CYP2A6 gene: impairment of its promoter activity. Pitarque M, et al. Biochem Biophys Res Commun, 2001 Jun 8. PMID 11394901
  4. Transcriptional regulation of the human CYP2A6 gene. Pitarque M, et al. J Pharmacol Exp Ther, 2005 May. PMID 15671201
  5. Decreased coumarin 7-hydroxylase activities and CYP2A6 expression levels in humans caused by genetic polymorphism in CYP2A6 promoter region (CYP2A6*9). Kiyotani K, et al. Pharmacogenetics, 2003 Nov. PMID 14583682

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

  1. NG_055456.1 

    Range
    101..6865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    40850426..40857190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    43671125..43677890
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases