Description: Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. RefSeq Summary (NM_000500): 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 and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr6:32,006,093-32,009,447 Size: 3,355 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr6:32,006,200-32,008,911 Size: 2,712 Coding Exon Count: 10
congenital adrenal hyperplasia Lobato MN et al. 1999, Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease., Human heredity. 1999 Jun;49(3):169-75.
[PubMed 10364682]
congenital adrenal hyperplasia Dolzan V 2003, Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease., European journal of endocrinology. 2003 Aug;149(2):137-44.
[PubMed 12887291]
Our genotyping approach allowed reliable diagnosis of CAH in the Slovenian population. The high frequency of CYP21 gene aberrations on Pro30Leu positive alleles justified systematic searching for a gene conversion in the promoter region using the PCR-SSP reaction.
gestational age Gidlof, S. et al. 2006, Gestational age correlates to genotype in girls with CYP21 deficiency, J Clin Endocrinol Metab 2006.
[PubMed 17047018]
Female patients with severe CYP21 deficiency had longer GA than patients with the milder form of the disease, indicating that androgen excess, increased 17-hydroxyprogesterone levels, or cortisol deficiency or a combination of these factors is of importance for prolongation of pregnancy. The same correlation was not observed for male patients. The results of this study support the notion that steroid hormones affect the prolongation of pregnancy or onset of labor or both.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q16874
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004497 monooxygenase activity GO:0005506 iron ion binding GO:0016491 oxidoreductase activity GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0020037 heme binding GO:0046872 metal ion binding
Biological Process: GO:0055114 oxidation-reduction process
Descriptions from all associated GenBank mRNAs
JD419755 - Sequence 400779 from Patent EP1572962. BC125181 - Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2, mRNA (cDNA clone MGC:150536 IMAGE:40122017), complete cds. BC125182 - Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2, mRNA (cDNA clone MGC:150537 IMAGE:40122018), complete cds. JD075662 - Sequence 56686 from Patent EP1572962. JD359994 - Sequence 341018 from Patent EP1572962. AK314651 - Homo sapiens cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA. JD355746 - Sequence 336770 from Patent EP1572962. AK054616 - Homo sapiens cDNA FLJ30054 fis, clone ADRGL1000160, highly similar to CYTOCHROME P450 XXIB (EC 1.14.99.10). JD151773 - Sequence 132797 from Patent EP1572962. JD522936 - Sequence 503960 from Patent EP1572962. AM086564 - Homo sapiens mRNA for steroid 21-hydroxylase, CYP21 (CYP21A2 gene) L166P allele. AM086565 - Homo sapiens mRNA for steroid 21-hydroxylase, CYP21 (CYP21A2 gene), A391T allele. AM183945 - Homo sapiens mRNA for steroid 21-hydroxylase, CYP21 (CYP21A2 gene), V139E allele. AM183946 - Homo sapiens mRNA for steroid 21-hydroxylase, CYP21 (CYP21A2 gene), C147R allele. AM183947 - Homo sapiens mRNA for steroid 21-hydroxylase, CYP21 (CYP21A2 gene), R233G allele. AM183948 - Homo sapiens mRNA for steroid 21-hydroxylase, CYP21 (CYP21A2 gene), T295N allele. AM183949 - Homo sapiens mRNA for steroid 21-hydroxylase, CYP21 (CYP21A2 gene), L308F allele. AM183950 - Homo sapiens mRNA for steroid 21-hydroxylase, CYP21 (CYP21A2 gene), R366C allele. AM183951 - Homo sapiens mRNA for steroid 21-hydroxylase, CYP21 (CYP21A2 gene), M473I allele. M17252 - Human cytochrome P450c21 mRNA, 3' end. KJ905723 - Synthetic construct Homo sapiens clone ccsbBroadEn_15393 CYP21A2 gene, encodes complete protein. BC128535 - Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2, mRNA (cDNA clone IMAGE:40120157), complete cds. JD121385 - Sequence 102409 from Patent EP1572962. JD474302 - Sequence 455326 from Patent EP1572962. JD342602 - Sequence 323626 from Patent EP1572962. CU689723 - Synthetic construct Homo sapiens gateway clone IMAGE:100020002 3' read TNXB mRNA. JD402232 - Sequence 383256 from Patent EP1572962. JD402233 - Sequence 383257 from Patent EP1572962. JD077734 - Sequence 58758 from Patent EP1572962. JD555695 - Sequence 536719 from Patent EP1572962. JD186382 - Sequence 167406 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00140 - Steroid hormone biosynthesis hsa01100 - Metabolic pathways
US Server
