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Aliases for CYP21A1P Gene

Aliases for CYP21A1P Gene

  • Cytochrome P450 Family 21 Subfamily A Member 1, Pseudogene 2 3 5
  • Cytochrome P450, Subfamily XXIA (Steroid 21-Hydroxylase), Polypeptide 1 Pseudogene 2 3
  • Cytochrome P450, Family 21, Subfamily A, Polypeptide 1 Pseudogene 2 3
  • Cytochrome P450, Subfamily XXI (Steroid 21-Hydroxylase) Pseudogene 3
  • P450c21A 3
  • CYP21A 3
  • CYP21P 3

External Ids for CYP21A1P Gene

Previous HGNC Symbols for CYP21A1P Gene

  • CYP21P
  • CYP21A

Previous GeneCards Identifiers for CYP21A1P Gene

  • GC06U990020
  • GC06P031744
  • GC06P032080
  • GC06P031972
  • GC06P031983
  • GC06P032009

Summaries for CYP21A1P Gene

GeneCards Summary for CYP21A1P Gene

CYP21A1P (Cytochrome P450 Family 21 Subfamily A Member 1, Pseudogene) is a Pseudogene. Diseases associated with CYP21A1P include C4b Deficiency and Lipid Metabolism Disorder.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP21A1P Gene

Genomics for CYP21A1P Gene

Regulatory Elements for CYP21A1P Gene

Enhancers for CYP21A1P Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CYP21A1P on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP21A1P Gene

Chromosome:
6
Start:
32,005,636 bp from pter
End:
32,008,909 bp from pter
Size:
3,274 bases
Orientation:
Plus strand

Genomic View for CYP21A1P Gene

Genes around CYP21A1P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP21A1P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP21A1P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP21A1P Gene

Proteins for CYP21A1P Gene

Post-translational modifications for CYP21A1P Gene

No Post-translational modifications

No data available for DME Specific Peptides for CYP21A1P Gene

Domains & Families for CYP21A1P Gene

Gene Families for CYP21A1P Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CYP21A1P: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CYP21A1P Gene

Function for CYP21A1P Gene

Molecular function for CYP21A1P Gene

GENATLAS Biochemistry:
cytochrome P450,family XXI A1,pseudogene,included in the YA sequence,in the same orientation

Phenotypes for CYP21A1P Gene

genes like me logo Genes that share phenotypes with CYP21A1P: view

Animal Model Products

miRNA for CYP21A1P Gene

miRTarBase miRNAs that target CYP21A1P

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYP21A1P Gene

Localization for CYP21A1P Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CYP21A1P Gene

Pathways & Interactions for CYP21A1P Gene

SuperPathways for CYP21A1P Gene

No Data Available

Interacting Proteins for CYP21A1P Gene

Gene Ontology (GO) - Biological Process for CYP21A1P Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CYP21A1P Gene

Drugs & Compounds for CYP21A1P Gene

(2) Drugs for CYP21A1P Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for CYP21A1P Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CYP21A1P: view

Transcripts for CYP21A1P Gene

mRNA/cDNA for CYP21A1P Gene

(14) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CYP21A1P Gene

No ASD Table

Relevant External Links for CYP21A1P Gene

GeneLoc Exon Structure for
CYP21A1P
ECgene alternative splicing isoforms for
CYP21A1P

Expression for CYP21A1P Gene

mRNA expression in normal human tissues for CYP21A1P Gene

mRNA differential expression in normal tissues according to GTEx for CYP21A1P Gene

This gene is overexpressed in Adrenal Gland (x30.7) and Liver (x6.0).

NURSA nuclear receptor signaling pathways regulating expression of CYP21A1P Gene:

CYP21A1P
genes like me logo Genes that share expression patterns with CYP21A1P: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CYP21A1P Gene

Orthologs for CYP21A1P Gene

Evolution for CYP21A1P Gene

ENSEMBL:
Gene Tree for CYP21A1P (if available)
TreeFam:
Gene Tree for CYP21A1P (if available)

No data available for Orthologs for CYP21A1P Gene

Paralogs for CYP21A1P Gene

No data available for Paralogs for CYP21A1P Gene

Variants for CYP21A1P Gene

Sequence variations from dbSNP and Humsavar for CYP21A1P Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1079995 -- 32,006,551(-) AGAGG(A/C/G/T)GAGGC intron-variant
rs4959020 -- 32,005,403(+) CTGCA(C/T)GGGTG upstream-variant-2KB
rs4959082 -- 32,005,943(+) GTGAC(A/C/G)GAGAG intron-variant, nc-transcript-variant
rs9501393 -- 32,007,072(+) CACAA(C/G/T)GAGGA nc-transcript-variant
rs71563393 -- 32,004,754(+) GAAAC(C/T)GCCCG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CYP21A1P Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10466n54 CNV loss 21841781
dgv10468n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
dgv10474n54 CNV gain 21841781
dgv10475n54 CNV loss 21841781
dgv10476n54 CNV loss 21841781
dgv10477n54 CNV loss 21841781
dgv10478n54 CNV loss 21841781
dgv20n31 CNV gain 19718026
esv2759415 CNV gain+loss 17122850
esv28110 CNV gain+loss 19812545
esv32938 CNV gain 17666407
esv3333985 CNV duplication 20981092
esv3413736 CNV duplication 20981092
esv3431334 CNV duplication 20981092
esv3890824 CNV loss 25118596
esv3890825 CNV loss 25118596
esv3890827 CNV gain+loss 25118596
nsv1073969 CNV deletion 25765185
nsv10824 CNV gain+loss 18304495
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv284 CNV deletion 15895083
nsv428141 CNV gain+loss 18775914
nsv5247 CNV deletion 18451855
nsv601971 CNV gain 21841781
nsv602038 CNV loss 21841781
nsv602045 CNV gain 21841781
nsv602050 CNV loss 21841781
nsv602051 CNV loss 21841781
nsv602056 CNV loss 21841781
nsv819957 CNV loss 19587683
nsv823506 CNV loss 20364138
nsv823507 CNV loss 20364138
nsv823508 CNV gain 20364138
nsv950155 CNV deletion 24416366
nsv981129 CNV duplication 23825009

Relevant External Links for CYP21A1P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP21A1P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CYP21A1P Gene

Disorders for CYP21A1P Gene

MalaCards: The human disease database

(2) MalaCards diseases for CYP21A1P Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
c4b deficiency
  • complement component 4b deficiency
lipid metabolism disorder
  • dyslipidemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CYP21A1P

Genetic Association Database (GAD)
CYP21A1P
Human Genome Epidemiology (HuGE) Navigator
CYP21A1P
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP21A1P
genes like me logo Genes that share disorders with CYP21A1P: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYP21A1P Gene

Publications for CYP21A1P Gene

  1. The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency. (PMID: 19201236) Lee Y.J. … Lee H.H. (Mol. Genet. Metab. 2009) 3 46 65
  2. Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population. (PMID: 19505723) Blasko B. … Szilagyi A. (Mol. Immunol. 2009) 3 46 65
  3. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency. (PMID: 18039588) Lee H.H. … Lin S.J. (Mol. Genet. Metab. 2008) 3 46 65
  4. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency. (PMID: 17666484) AraA_jo R.S. … Bachega T.A. (J. Clin. Endocrinol. Metab. 2007) 3 22 65
  5. [Screening 21-hydroxylase deficiency carriers in androgen excess women of Chinese Han nationality]. (PMID: 15793784) Tao H. … Sun M. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005) 3 46 65

Products for CYP21A1P Gene

Sources for CYP21A1P Gene

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