Entry - *608055 - CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 13; CYP2A13 - OMIM
 
* 608055

CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 13; CYP2A13


HGNC Approved Gene Symbol: CYP2A13

Cytogenetic location: 19q13.2     Genomic coordinates (GRCh38): 19:41,088,451-41,096,195 (from NCBI)


TEXT

Cloning and Expression

Fernandez-Salguero et al. (1995) cloned 3 complete CYP2A genes, CYP2A6 (122720), CYP2A7 (608054), and CYP2A13, in addition to 2 pseudogenes truncated after exon 5, all of which are located in a 350-kb region on chromosome 19q13.2. The deduced CYP2A13 protein contains 494 amino acids.

Using RT-PCR, Su et al. (2000) cloned CYP2A13 from human nasal mucosa total RNA. RT-PCR detected highest CYP2A13 expression in nasal mucosa, followed by lung and trachea. Lower expression was detected in testis and liver, and weak expression was detected in brain, mammary gland, prostate, and uterus, but not in other tissues examined.


Gene Function

CYP2A13 may play important roles in xenobiotic toxicity and tobacco-related tumorigenesis in the respiratory tract (Su et al., 2000).

Su et al. (2000) found that in vitro-translated CYP2A13 metabolized many of the same carcinogens and toxicants as liver microsomal CYP2A6. However, compared with CYP2A6, it showed much lower activity against coumarin and much higher activity against 4(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), a major tobacco-specific carcinogen.


Gene Structure

Fernandez-Salguero et al. (1995) determined that the CYP2A13 gene contains 9 exons.


Mapping

Fernandez-Salguero et al. (1995) determined the structural organization of the CYP2 gene cluster, which spans 350 kb on chromosome 19q13.2. They also determined the directions of transcription.


Molecular Genetics

Zhang et al. (2002) identified a C-to-T polymorphism (arg257 to cys) in exon 5 of the CYP2A13 gene. The product of this variant was 37 to 56% less active than the wildtype protein toward all substrates tested.


REFERENCES

  1. Fernandez-Salguero, P., Hoffman, S. M. G., Cholerton, S., Mohrenweiser, H., Raunio, H., Rautio, A., Pelkonen, O., Huang, J., Evans, W. E., Idle, J. R., Gonzalez, F. J. A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles. Am. J. Hum. Genet. 57: 651-660, 1995. [PubMed: 7668294, related citations]

  2. Su, T., Bao, Z., Zhang, Q.-Y., Smith, T. J., Hong, J.-Y., Ding, X. Human cytochrome P450 CYP2A13: predominant expression in the respiratory tract and its high efficiency metabolic activation of a tobacco-specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. Cancer Res. 60: 5074-5079, 2000. [PubMed: 11016631, related citations]

  3. Zhang, X., Su, T., Zhang, Q. Y., Gu, J., Caggana, M., Li, H., Ding, X. Genetic polymorphisms of the human CYP2A13 gene: identification of single-nucleotide polymorphisms and functional characterization of an arg257-to-cys variant. J. Pharm. Exp. Ther. 302: 416-423, 2002. [PubMed: 12130698, related citations] [Full Text]


Contributors:
Patricia A. Hartz - updated : 3/20/2009
Creation Date:
Victor A. McKusick : 8/20/2003
carol : 10/20/2016
mgross : 03/23/2009
terry : 3/20/2009
mgross : 8/20/2003

* 608055

CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 13; CYP2A13


HGNC Approved Gene Symbol: CYP2A13

Cytogenetic location: 19q13.2     Genomic coordinates (GRCh38): 19:41,088,451-41,096,195 (from NCBI)


TEXT

Cloning and Expression

Fernandez-Salguero et al. (1995) cloned 3 complete CYP2A genes, CYP2A6 (122720), CYP2A7 (608054), and CYP2A13, in addition to 2 pseudogenes truncated after exon 5, all of which are located in a 350-kb region on chromosome 19q13.2. The deduced CYP2A13 protein contains 494 amino acids.

Using RT-PCR, Su et al. (2000) cloned CYP2A13 from human nasal mucosa total RNA. RT-PCR detected highest CYP2A13 expression in nasal mucosa, followed by lung and trachea. Lower expression was detected in testis and liver, and weak expression was detected in brain, mammary gland, prostate, and uterus, but not in other tissues examined.


Gene Function

CYP2A13 may play important roles in xenobiotic toxicity and tobacco-related tumorigenesis in the respiratory tract (Su et al., 2000).

Su et al. (2000) found that in vitro-translated CYP2A13 metabolized many of the same carcinogens and toxicants as liver microsomal CYP2A6. However, compared with CYP2A6, it showed much lower activity against coumarin and much higher activity against 4(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), a major tobacco-specific carcinogen.


Gene Structure

Fernandez-Salguero et al. (1995) determined that the CYP2A13 gene contains 9 exons.


Mapping

Fernandez-Salguero et al. (1995) determined the structural organization of the CYP2 gene cluster, which spans 350 kb on chromosome 19q13.2. They also determined the directions of transcription.


Molecular Genetics

Zhang et al. (2002) identified a C-to-T polymorphism (arg257 to cys) in exon 5 of the CYP2A13 gene. The product of this variant was 37 to 56% less active than the wildtype protein toward all substrates tested.


REFERENCES

  1. Fernandez-Salguero, P., Hoffman, S. M. G., Cholerton, S., Mohrenweiser, H., Raunio, H., Rautio, A., Pelkonen, O., Huang, J., Evans, W. E., Idle, J. R., Gonzalez, F. J. A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles. Am. J. Hum. Genet. 57: 651-660, 1995. [PubMed: 7668294]

  2. Su, T., Bao, Z., Zhang, Q.-Y., Smith, T. J., Hong, J.-Y., Ding, X. Human cytochrome P450 CYP2A13: predominant expression in the respiratory tract and its high efficiency metabolic activation of a tobacco-specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. Cancer Res. 60: 5074-5079, 2000. [PubMed: 11016631]

  3. Zhang, X., Su, T., Zhang, Q. Y., Gu, J., Caggana, M., Li, H., Ding, X. Genetic polymorphisms of the human CYP2A13 gene: identification of single-nucleotide polymorphisms and functional characterization of an arg257-to-cys variant. J. Pharm. Exp. Ther. 302: 416-423, 2002. [PubMed: 12130698] [Full Text: https://doi.org/10.1124/jpet.302.2.416]


Contributors:
Patricia A. Hartz - updated : 3/20/2009

Creation Date:
Victor A. McKusick : 8/20/2003

Edit History:
carol : 10/20/2016
mgross : 03/23/2009
terry : 3/20/2009
mgross : 8/20/2003