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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP21A1P Gene

pseudogene   GIFtS: 24
GCID: GC06P031983

Cytochrome P450, Family 21, Subfamily A, Polypeptide 1 Pseudogene

(Previous names: cytochrome P450, subfamily XXIA (steroid 21-hydroxylase),...)
(Previous symbols: CYP21P, CYP21A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Cytochrome P450, Family 21, Subfamily A, Polypeptide 1 Pseudogene1 2
CYP21A1 2
CYP21P1 2
Cytochrome P450, Subfamily XXIA (Steroid 21-Hydroxylase), Polypeptide 1
Pseudogene1
P450c21A2

External Ids:    HGNC: 25991   Entrez Gene: 15902   Ensembl: ENSG000002043387   
ORGUL members:         
NONCODE14:n411624      

Export aliases for CYP21A1P gene to outside databases

Previous GC identifers: GC06U990020 GC06P031744 GC06P032080 GC06P031972


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CYP21A1P Gene: 
CYP21A1P (cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene) is a pseudogene, and is affiliated with the lncRNA class. Diseases associated with CYP21A1P include juvenile rheumatoid arthritis, and 21-hydroxylase deficiency.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CYP21A1P
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP21A1P


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.33

CYP21A1P Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP21A1P gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031983:  view genomic region     (about GC identifiers)

Start:
31,973,413 bp from pter      End:
31,976,686 bp from pter
Size:
3,274 bases      Orientation:
plus strand

3 alternative locations:
Chr6+,NT_167249 3,306,123-3,309,396      Chr6+,NT_167245 3,258,996-3,262,269      Chr6+,NT_167248 3,267,201-3,270,501     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
CYP: Cytochrome P450s

  --

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:
     Genatlas biochemistry entry for CYP21A1P:
cytochrome P450,family XXI A1,pseudogene,included in the YA sequence,in the same orientation

Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CYP21A1P

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CYP21A1P for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CYP21A1P

5 Novoseek inferred chemical compound relationships for CYP21A1P gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
steroid 73.9 17 7479886 (2), 11093272 (2), 1674383 (1), 2328938 (1) (see all 13)
bgl ii 55.9 1 2152933 (1)
oligonucleotide 7.66 2 2347361 (1), 2226916 (1)
threonine 2.62 1 14730433 (1)
serine 0 1 14730433 (1)

Search CenterWatch for drugs/clinical trials and news about CYP21A1P

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000342991(uc021yve.1) ENST00000354927(uc021yvd.1)
miRNA
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14 AceView cDNA sequences:

BQ637676 CD014134 BV183547 BV206823 BX280071 BV195500 AV705196 AA575857 
BG105044 AV702085 BV183548 M17252 AV701517 BV183549 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP21A1P expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
CYP21A1P Expression
About this image


Genevestigator expression for CYP21A1P
    SABiosciences Custom PCR Arrays for CYP21A1P
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for CYP21A1P gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cyp21a15 cytochrome P450, family 21, subfamily a, polypeptide more   --   17 (18.36 cM) 34801348 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/101 SNPs in CYP21A1P are shown (see all 101)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs64721,2
C,Fprobable-non-pathogenic131892456(+) GCCGAG/CCATGG 1 -- nc-transcript-variant7Minor allele frequency- C:0.16MN EA NA EU 7651
rs1513445051,2
Cuntested131892563(+) GGGCCA/GTGGTT 1 -- nc-transcript-variant0--------
rs725527541,2
Cuntested131892870(+) GGACCA/GTGCAC 1 -- nc-transcript-variant0--------
rs2007789361,2
C--31892399(+) CCTCGT/CGGCAG 1 -- nc-transcript-variant1Minor allele frequency- C:0.00EU 1157
rs1457008211,2
C--31971862(+) AAGACA/CTGGCC 2 -- us2k10--------
rs1447481361,2
C--31972102(+) GGGGG-/GAAGGT 1 -- us2k10--------
rs1996193731,2
C--31972269(+) GTGGG-/CCCCCA 2 -- us2k10--------
rs1147078801,2
C,F--31972370(+) TTGAGG/CGGGGG 2 -- us2k12Minor allele frequency- C:0.13WA NA 238
rs2005298221,2
--31972701(+) CTCCT-/GGTGGC 2 -- us2k10--------
rs283610321,2
C,F,H--31973016(+) TAACAA/GACAAA 2 -- us2k115Minor allele frequency- G:0.20NS EA NA WA 2208

HapMap Linkage Disequilibrium report for CYP21A1P (31973413 - 31976686 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/41 variations for CYP21A1P (see all 41):    About this table     
Variant IDTypeSubtypePubMed ID
dgv20n31CNV Duplication19718026
dgv6631n71CNV Loss21882294
nsv884626CNV Loss21882294
dgv6624n71CNV Loss21882294
dgv6612n71CNV Loss21882294
dgv6613n71CNV Loss21882294
dgv6623n71CNV Loss21882294
dgv6629n71CNV Loss21882294
nsv5247CNV Loss18451855
nsv884627CNV Loss21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
11 diseases for CYP21A1P:    About MalaCards
juvenile rheumatoid arthritis    21-hydroxylase deficiency    common variable immunodeficiency    rabies
candidiasis    cytochrome p450    lupus erythematosus    rheumatoid arthritis
systemic lupus erythematosus    arthritis    retinitis


CYP21A1P for disorders           About GeneDecksing

3 Novoseek inferred disease relationships for CYP21A1P gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
adrenal hyperplasia congenital 94.1 4 8034294 (1), 8081391 (1), 1905948 (1), 14730433 (1)
adrenal hyperplasia 61.6 3 2316563 (1), 2226916 (1)
lupus erythematosus systemic 0 2 1351942 (1)

Genetic Association Database (GAD): CYP21A1P
Human Genome Epidemiology (HuGE) Navigator: CYP21A1P (7 documents)

Export disorders for CYP21A1P gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for CYP21A1P gene, integrated from 9 sources (see all 97):
(articles sorted by number of sources associating them with CYP21A1P)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population. (PubMed id 19505723)1, 4 Blasko B.... Szilagyi A. (2009)
  2. The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency. (PubMed id 19201236)1, 4 Lee Y.J....Lee H.H. (2009)
  3. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency. (PubMed id 18039588)1, 4 Lee H.H....Lin S.J. (2008)
  4. Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia. (PubMed id 15941926)1, 4 Votava F....Waldhauser F. (2005)
  5. [Screening 21-hydroxylase deficiency carriers in androgen excess women of Chinese Han nationality] (PubMed id 15793784)1, 4 Tao H....Sun M. (2005)
  6. Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes. (PubMed id 15036125)1, 4 Schlade-Bartusiak K....Sasiadek M. (2004)
  7. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia. (PubMed id 14502362)1, 4 Torres N....Castro M. (2003)
  8. Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. (PubMed id 3038528)1, 3 Rodrigues N.R....Campbell R.D. (1987)
  9. Structure of human steroid 21-hydroxylase genes. (PubMed id 3487786)1, 3 White P.C.... Dupont B. (1986)
  10. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency. (PubMed id 17666484)1, 9 Araujo R.S....Bachega T.A. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 1590 HGNC: 2599 AceView: CYP21A1P Ensembl:ENSG00000204338 euGenes: HUgn1590
ECgene: CYP21A1P H-InvDB: CYP21A1P

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for CYP21A1P Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for CYP21A1P gene:
Search GeneIP for patents involving CYP21A1P

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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