AR Gene
protein-coding GIFtS : 76
GCID: GC0X P066763
androgen receptor (Previous names: dihydrotestosterone receptor, spinal and bulbar muscular... ) (Previous symbols: DHTR, SBMA )
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Aliasesfor AR gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Androgen Receptor 1 2 HUMARA1 2 DHTR1 2 3 5 Nuclear Receptor Subfamily 3 Group C Member 42 3 Dihydrotestosterone Receptor1 2 3 HYSP12 5 NR3C41 2 3 KD2 5 SBMA1 2 5 TFM2 5 SMAX11 2 5 Spinal And Bulbar Muscular Atrophy1 AIS1 2 Androgen Nuclear Receptor Variant 22
Export aliases for AR gene to outside databases Previous GC identifers: GC0XP062984 GC0XP064229 GC0XP064997 GC0XP065630 GC0XP066546 GC0XP066680 GC0XP060592
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Summariesfor AR gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for AR : The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: ANDR_HUMAN, P10275 Function : Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expressionand affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3 summary
for AR : Androgen receptors (ARs) (also known as dihydrotestosterone receptors) are nuclear hormone receptors of theNR3C class, which also includes mineralocorticoid, progesterone and glucocorticoid receptors. They areexpressed in bone marrow, mammary gland, prostate, testicular and muscle tissues where they exist as dimerscoupled to Hsp90 and HMGB proteins, which are shed upon ligand binding. Activated androgen receptors bind tonuclear response elements of the genome, with an inverted palindromic 15 nucleotide sequence, to regulategene transcription. Androgen receptors also effect gene expression through interaction with transcriptionfactors including AP-1, NF-kappaB and STAT. Target genes of androgen receptors include insulin-like growthfactor 1 (IGF-1) and genes involved in the development of primary and secondary male sexual characteristics,maintenance of sexual function and possibly have a causative role in aggressive behavior. Furthermore,androgen receptors have recently been shown to have actions that are independent of DNA interactions.Congential mutations in androgen receptors are associated with androgen insensitivity syndromes, virilityand spinal and bulbar muscular atrophy. Perturbations in androgen receptor expression is also a commonfeature of prostate cancer. The human gene encoding the androgen receptor has been localized to Xq11-12. Gene Wiki entry for AR (Androgen receptor)
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Genomic Viewsfor AR gene
(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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000023.10 NC_018934.1 NT_011669.17 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the AR gene promoter: GR Sp1 GR-beta GR-alpha Other transcription factors Search SABiosciences Chromatin IP Primers for AR Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat AR
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: Xq12 Ensembl cytogenetic band: Xq12 HGNC cytogenetic band: Xq12 AR Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XP066763: view genomic region
(about GC identifiers )
Start:
66,763,874 bp from pter
End:
66,950,461 bp from pter
Size:
186,588 bases
Orientation:
plus strand
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Proteinsfor AR gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: ANDR_HUMAN, P10275 (See
protein sequence )Recommended Name: Androgen receptor Size : 919 amino acids; 98989 Da
Subunit : Binds DNA as a homodimer. Part of a ternary complex containing AR, EFCAB6/DJBP and PARK7. Interacts with HIPK3and NR0B2 in the presence of androgen. The ligand binding domain interacts with KAT7/HBO1 in the presence of dihydrotestosterone. Interacts with EFCAB6/DJBP, PELP1, PQBP1, RANBP9, RBAK, SPDEF, SRA1, TGFB1I1, ZNF318 and RREB1. Interacts with ZMIZ1/ZIMP10 and ZMIZ2/ZMIP7 which both enhance its transactivation activity. Interacts with SLC30A9 and RAD54L2/ARIP4 (By similarity). Interacts via the ligand-binding domain with LXXLL and FXXLF motifs from NCOA1, NCOA2, NCOA3, NCOA4 and MAGEA11. The AR N-terminal poly-Gln region binds Ran resulting in enhancement of AR-mediated transactivation. Ran-binding decreases as the poly-Gln length increases. Interacts with HIP1 (via coiled coil domain). Interacts (via ligand-binding domain) with TRIM68. Interacts with TNK2. Interacts with USP26. Interacts with RNF6. Interacts (regulated by RNF6 probably through polyubiquitination) with RNF14; regulates AR transcriptional activity. Interacts with PRMT2 and TRIM24. Interacts with GNB2L1/RACK1. Interacts with RANBP10; this interaction enhances dihydrotestosterone-induced AR transcriptional activity. Interacts with PRPF6 in a hormone-independent way; this interaction enhances dihydrotestosterone-induced AR transcriptional activity. Interacts with STK4/MST1. Interacts with ZIPK/DAPK3. Interacts with LPXN. Interacts with MAK. Part of a complex containing AR, MAK and NCOA3
Subcellular location : Nucleus. Cytoplasm. Note=Predominantly cytoplasmic in unligated form but translocates to thenucleus upon ligand-binding. Can also translocate to the nucleus in unligated form in the presence of GNB2L1
Miscellaneous : In the absence of ligand, steroid hormone receptors are thought to be weakly associated with nuclearcomponents; hormone binding greatly increases receptor affinity. The hormone-receptor complex appears to recognize discrete DNA sequences upstream of transcriptional start sites
Miscellaneous : Transcriptional activity is enhanced by binding to RANBP9
Miscellaneous : The level of tyrosine phosphorylation may serve as a diagnostic tool to predict patient outcome inresponse to hormone-ablation therapy. Inhibition of tyrosine phosphorylation may be an effective intervention target for hormone-refractory prostate cancer
6/54 PDB 3D structures from and Proteopedia for AR (see all 54 ):1E3G (3D)
  1GS4 (3D)
  1T5Z (3D)
  1T63 (3D)
  1T65 (3D)
  1XJ7 (3D)
 
Secondary accessions : A2RUN2 B1AKD7 Q9UD95Alternative splicing : 2 isoforms : P10275-1 P10275-2 Explore the universe of human proteins at neXtProt for AR: NX_P10275 Post-translational modifications:
Sumoylated on Lys-386 (major) and Lys-520. Ubiquitinated. Deubiquitinated by USP26. 'Lys-6' and 'Lys-27'-linked polyubiquitination by RNF6 modulates AR transcriptional activity and specificity1
Phosphorylated in prostate cancer cells in response to several growth factors including EGF. Phosphorylation is induced by c-Src kinase (CSK). Tyr-534 is one of the major phosphorylation sites and an increase in phosphorylation and Src kinase activity is associated with prostate cancer progression. Phosphorylation by TNK2 enhances the DNA-binding and transcriptional activity and may be responsible for androgen-independent progression of prostate cancer. Phosphorylation at Ser-81 by CDK9 regulates AR promoter selectivity and cell growth. Phosphorylation by PAK6 leads to AR-mediated transcription inhibition1
Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P10275 AR Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_000035.2 NP_001011645.1 ENSEMBL proteins: ENSP00000363822 ENSP00000421155 ENSP00000425199 ENSP00000379358 ENSP00000379359 Reactome Protein details: P10275 Human Recombinant Protein Products: Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8 ): About this table
AR for ontologies About GeneDecksing AR Antibody Products: EMD Millipore Mono- and Polyclonal Antibodies for the study of AR R&D Systems Antibodies for AR (Androgen R/NR3C4) Cell Signaling Technology (CST) Antibodies for AR   OriGene Antibodies (see all 4 ): AR OriGene Custom Antibody Services for AR GenScript Superior Antibodies for AR Novus Biologicals AR Antibodies Abcam antibodies for AR Uscn Antibodies for AR ThermoFisher Antibody for AR
Assay Products for AR:
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Protein
Domains / Familiesfor AR gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
AR for domains About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P10275 ProtoNet protein and cluster: P10275
1 Blocks protein family : IPB001103 Androgen receptor signature UniProtKB/Swiss-Prot: ANDR_HUMAN, P10275 Domain : Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-bindingdomain. In the presence of bound steroid the ligand-binding domain interacts with the N-terminal modulating domain, and thereby activates AR transcription factor activity. Agonist binding is required for dimerization and binding to target DNA. The transcription factor activity of the complex formed by ligand-activated AR and DNA is modulated by interactions with coactivator and corepressor proteins. Interaction with RANBP9 is mediated by both the N-terminal domain and the DNA-binding domain. Interaction with EFCAB6/DJBP is mediated by the DNA-binding domain Similarity : Belongs to the nuclear hormone receptor family. NR3 subfamilySimilarity : Contains 1 nuclear receptor DNA-binding domain
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Functionfor AR gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
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 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: ANDR_HUMAN, P10275 Function : Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expressionand affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3 Enzyme regulation : AIM-100 (4-amino-5,6-biaryl-furo[2,3-d]pyrimidine) suppresses TNK2-mediated phosphorylation atTyr-267. Inhibits the binding of the Tyr-267 phosphorylated form to androgen-responsive enhancers (AREs) and its transcriptional activity
Genatlas biochemistry entry for AR : androgen receptor,steroid/thyroid hormone,receptor superfamily Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for AR (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AR (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: AR (NM_001605 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AR Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AR
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AR
Gene Ontology (GO): 5/20 molecular function terms (GO ID links to tree view) (see all 20 ): About this table
AR for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for AR :Animal Models: Mouse knock-outs for AR: Ar tm1Ska Ar tm1.1Chc Ar tm1.1Verh Ar tm1.1Jdz Ar tm1.1Reb 15/21 MGI mutant phenotypes (inferred from 19 alleles ) (MGI details for Ar) (see all 21 ):
AR for phenotypes About GeneDecksing
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Pathways & Interactionsfor AR gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/26 super-pathways (see all 26 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Transcription_Role of VDR in regulation of genes involved in osteoporosis 2 Translation_Non-genomic (rapid) action of Androgen Receptor 3 Transcription_Androgen Receptor nuclear signaling 4 Nuclear Receptor transcription pathway 5 Generic Transcription Pathway
Pathway sources See GeneCards unified pathways Show all pathways 4 EMD Millipore Pathways for AR 1 R&D Systems Pathway for AR 2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for AR 4 GeneGo (Thomson Reuters) Pathways for AR 5/16 BioSystems Pathways for AR (see all 16 ) 3
Reactome Pathways for AR 3
Kegg Pathways (Kegg details for AR) :
AR for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AR STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/303 Interacting proteins for AR (P10275 1 , 2 , 3 ENSP00000363822 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 303 )Interactant Interaction Details GeneCard External ID(s) KAT7 O95251 1 , 2 , 3 , ENSP00000259021 4 EBI-608057,EBI-473199 MINT-16599 MINT-16598 MINT-16600 I2D:
score=4 STRING: ENSP00000259021 NCOA2 Q15596 1 , 2 , 3 , ENSP00000399968 4 EBI-608057,EBI-81236 MINT-49804 I2D:
score=6 STRING: ENSP00000399968 WHSC1 O96028 2 , 3 , ENSP00000329167 4 MINT-7103766 MINT-7103800 MINT-7103785 MINT-7103819 MINT-7103748 I2D:
score=2 STRING: ENSP00000329167 IFI16 Q16666 2 , 3 , ENSP00000357113 4 MINT-1781599 MINT-1781673 MINT-1781653 I2D:
score=2 STRING: ENSP00000357113 FHL2 Q14192 2 , 3 , ENSP00000322909 4 MINT-16358 MINT-16359 I2D:
score=3 STRING: ENSP00000322909
About this table Gene Ontology (GO): 5/52 biological process terms (GO ID links to tree view) (see all 52 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0001701 in utero embryonic development
IEA -- GO:0003073 regulation of systemic arterial blood pressure
IEA -- GO:0006351 transcription, DNA-dependent
IDA 15572661 GO:0006355 regulation of transcription, DNA-dependent
-- -- GO:0006357 regulation of transcription from RNA polymerase II promoter
-- --
AR for ontologies About GeneDecksing
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Drugs & Compoundsfor AR gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
AR for compounds About GeneDecksing
Enzo Life Sciences drugs & compounds for AR
Compounds for AR available from Tocris Bioscience About this table Compound Action
CAS
# Nilutamide Androgen receptor antagonist. Orally active [63612-50-0] Bicalutamide Non-steroidal androgen receptor antagonist [90357-06-5] Cl-4AS-1 Steroidal androgen receptor agonist [188589-66-4] Finasteride Type II 5alpha-reductase inhibitor [98319-26-7] TFM-4AS-1 Selective androgen receptor modulator (SARM) --
6 HMDB Compounds for AR About this table Compound Synonyms
CAS
# PubMed Ids Androsterone (3R,5S,8R,9S,10S,13S,14S)-3-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,14,15,16-tetradecahydrocyclopenta[a]phenanthren-17-one (see all 28 ) 53-41-8 7591265 Androstenedione (4)-Androsten-3,17-dione (see all 14 ) 63-05-8 -- Dihydrotestosterone 17-Hydroxy-androstan-3-one (see all 31 ) 521-18-6 -- Finasteride Finasterida (see all 8 ) 98319-26-7 -- Nandrolone (17-beta)-17-Hydroxyestr-4-en-3-one (see all 23 ) 434-22-0 -- Testosterone (+)-testosterone (see all 86 ) 58-22-0 --
10/40 DrugBank Compounds for AR (see all 40 ) About this table 10/132 Novoseek chemical compound relationships for AR gene (see all 132 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
testosterone
96.6
5022
10551783 (11), 11181525 (8), 8961268 (8), 9383273 (7) (see all 99 )
dihydrotestosterone
92.4
526
8883929 (5), 16434977 (4), 1425449 (4), 18695894 (4) (see all 99 )
bicalutamide
92.4
197
17804755 (5), 15754350 (4), 10828827 (4), 12517791 (3) (see all 96 )
hydroxyflutamide
92.3
102
12941811 (3), 16129672 (3), 12414626 (2), 15166229 (2) (see all 58 )
r1881
85.8
30
18591159 (3), 7784269 (3), 1526623 (2), 2214782 (1) (see all 19 )
flutamide
80
96
10363963 (4), 17559882 (3), 17984247 (3), 16281084 (2) (see all 61 )
steroid
79.3
238
12923188 (3), 2177837 (3), 8067700 (2), 8043498 (2) (see all 99 )
mibolerone
78.8
15
2214782 (1), 2127955 (1), 8446106 (1), 1722054 (1) (see all 11 )
estrogen
77.6
393
9593644 (4), 16123086 (3), 1654243 (3), 18030175 (3) (see all 99 )
cyproteroneacetate
76.3
79
15256534 (4), 14744261 (3), 12573824 (2), 8146066 (2) (see all 32 )
Search CenterWatch for drugs/clinical trials and news about AR / ANDR
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Transcriptsfor AR gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
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 ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for AR gene (2 alternative transcripts): NM_000044.3 NM_001011645.2 Unigene Cluster for AR:
Androgen receptor Hs.76704 [show with all ESTs ] Unigene Representative Sequence: NM_000044 6 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000374690 (uc004dwu.2 uc022byk.1 uc004dwv.2 ) ENST00000513847 (uc011mpd.2 )ENST00000504326 (uc011mpf.1 uc022byj.1 ) ENST00000514029 (uc011mpe.1 )ENST00000396043 ENST00000396044 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for AR (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AR (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: AR (NM_001605 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AR Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AR
Additional cDNA sequence: AF162704.1 AF321914.1 AF321915.1 AF321916.1 AF321917.1 BC132975.1 FJ235916.1 FJ235917.1 FJ235918.1 FJ235919.1 FJ235920.1 GU208210.1 HM055487.1 HQ692823.1 L29496.1 M20132.1 M20260.1 M21748.1 M23263.1 M34233.1 M73069.1
9 DOTS entries : DT.113506 DT.113163
DT.95340817 DT.95340822 DT.97839012 DT.91712255 DT.75139451 DT.91665721 DT.121314197 22 AceView cDNA sequences :
AF321917 AW294182 AI659563 AF321915 AL704463 NM_000044 M34233 AF321916 AA230070 L29496 M20260 BE858867 AF321914 M20132 M23263 AF162704 AW951855 CF140197 AA229063 BX106842 T28396 AF324243 GeneLoc Exon Structure
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Expression for AR gene
(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 AR expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GCACCTTCAG
About this image AR expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See AR Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for AR SOURCE GeneReport for Unigene cluster: Hs.76704 UniProtKB/Swiss-Prot: ANDR_HUMAN, P10275 Tissue specificity : Isoform 2 is mainly expressed in heart and skeletal muscle SABiosciences Expression via Pathway-Focused PCR Arrays including AR (see all 7 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ARBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat AR QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat AR QIAGEN QuantiFast Probe-based Assays in human , mouse , rat AR In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AR
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Orthologsfor AR gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for AR gene from 5/16 species (see all 16 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
AR1
androgen receptor
71.16(n) 72.02(a)
 
422165 NM_001040090.1 NP_001035179.1
lizard (Anolis carolinensis)
Reptilia
Q9IA30_ANOCA6
Androgen receptor Fragment
91(a)
1 ↔ 1
GL343465.1(293451-345860)
African clawed frog (Xenopus laevis)
Amphibia
Xl.4262
Xenopus laevis androgen receptor alpha isoform (X1 more
80.66(n)
 
U67129.1
zebrafish (Danio rerio)
Actinopterygii
ar6
androgen receptor
41(a)
1 ↔ 1
5(37179505-37297038)
worm (Caenorhabditis elegans)
Secernentea
nhr-256
Nuclear hormone receptor family member nhr-25
12(a)
1 → many
X(13008424-13013892)
ENSEMBL Gene Tree for AR (if available)TreeFam Gene Tree for AR (if available)
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Paralogsfor AR gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for AR gene ESRRA 2 RXRG 2 PGR 2 ESR2 2 ESRRB 2 HNF4G 2 NR2F6 2 NR2E1 2 ESRRG 2 NR3C2 2 RXRA 2 NR2F1 2 NR3C1 2 NR2F2 2 ESR1 2 NR2C1 2 HNF4A 2 NR2C2 2 RXRB 2 17 SIMAP similar genes for AR using alignment to 19 protein entries: ANDR_HUMAN (see all proteins ):NR3C4 AR8 NR3C2 ESRRA ESR1 NR1I3 HNF4alpha HNF4G NR3C1 PGR NR5A1 RORA THRB VDR ESRRG NR2C2 NR1H3
AR for paralogs About GeneDecksing
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Genomic Variantsfor AR gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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 UniProtKB/Swiss-Prot: ANDR_HUMAN, P10275 Polymorphism : The poly-Gln region of AR is highly polymorphic and the number of Gln varies in the population (from 17to 26). A smaller size of the poly-Gln region may be associated with the development of prostate cancer Polymorphism : The poly-Gly region of AR is polymorphic and ranges from 24 to 31 Gly. A poly-Gly region shorter or equalto 23 may be associated with the development of androgenetic alopecia
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr X pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for AR (66763874 - 66950461 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 6 variations for AR 5 CNVs : 83567 9347 96731 3266 4154 1 Indel : 83568 Human Gene Mutation Database (HGMD) : AR Locus Specific Mutation Databases (LSDB): AR SABiosciences Cancer Mutation PCR Assays
3 SABiosciences qBiomarker Copy Number PCR Arrays containing AR :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing AR
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Disorders
/ Diseasesfor AR gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
AR for disorders About GeneDecksing OMIM gene information: 313700 OMIM disorders : 300068 313200 312300 176807 300633 UniProtKB/Swiss-Prot: ANDR_HUMAN, P10275
Defects in AR are the cause of androgen insensitivity syndrome (AIS) [MIM:300068]; previously known as testicular feminization syndrome (TFM). AIS is an X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype Defects in AR are the cause of spinal and bulbar muscular atrophy X-linked type 1 (SMAX1) [MIM:313200]; also known as Kennedy disease. SMAX1 is an X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy. Note=Caused by trinucleotide CAG repeat expansion. In SMAX1 patients the number of Gln ranges from 38 to 62. Longer expansions result in earlier onset and more severe clinical manifestations of the disease Note=Defects in AR may play a role in metastatic prostate cancer. The mutated receptor stimulates prostate growth and metastases development despite of androgen ablation. This treatment can reduce primary and metastatic lesions probably by inducing apoptosis of tumor cells when they express the wild-type receptor Defects in AR are the cause of androgen insensitivity syndrome partial (PAIS) [MIM:312300]; also known as Reifenstein syndrome. PAIS is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations 20/210 diseases for AR (see all 210 ): About MalaCards spinal-bulbar muscular atrophy spinal and bulbar muscular atrophy of kennedy muscular atrophy androgen insensitivity syndrome kennedy's disease virilization hypospadias 1, x-linked androgen insensitivity, partial, with or without breast cancer spermatogenesis arrest androgen insensitivity syndrome, partial prostate cancer 46, xy disorders of sex development prostatitis complete androgen insensitivity syndrome 21-hydroxylase deficiency estrogen-receptor negative breast cancer estrogen-receptor positive breast cancer gender identity disorder spinal muscular atrophy machado-joseph disease 14 diseases from the University of Copenhagen DISEASES database for AR :Androgen insensitivity syndrome Prostate cancer Spinal muscular atrophy Hypospadias Male infertility Breast cancer Gynecomastia dentatorubral-pallidoluysian atrophy Cryptorchidism Carcinoma Muscular atrophy Pseudohermaphroditism Infertility Huntington's disease 10/95 Novoseek disease relationships for AR gene (see all 95 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
prostate cancer
93.3
2220
12970746 (8), 16598769 (6), 19628766 (6), 10910077 (6) (see all 99 )
androgen insensitivity syndrome
93.2
99
19178528 (2), 9039340 (2), 11549642 (2), 11282274 (1) (see all 84 )
androgen insensitivity syndrome partial
90.5
24
9177411 (3), 1472458 (2), 8325932 (1), 8834252 (1) (see all 17 )
androgen insensitivity syndrome complete
87.5
39
9177411 (2), 19023143 (2), 9610419 (1), 10092153 (1) (see all 36 )
kennedy disease
86.5
31
7852512 (3), 7489816 (2), 16981011 (2), 8065934 (1) (see all 26 )
spinobulbar muscular atrophy
78
11
9177411 (2), 9466993 (1), 9642623 (1), 11751688 (1) (see all 9 )
prostate carcinoma
74.3
99
15029260 (3), 7541709 (3), 7971517 (3), 9267828 (3) (see all 68 )
virilization
71.8
33
9360511 (3), 12242031 (3), 15713272 (2), 9039340 (2) (see all 22 )
recurrent prostate cancer
67.6
19
14532783 (4), 14662770 (3), 16619264 (2), 15833875 (1) (see all 9 )
benign prostatic hyperplasia
65.3
43
14654929 (2), 9816246 (2), 12845678 (1), 16483160 (1) (see all 33 )
GeneTests: AR Androgen Insensitivity Syndrome Spinal and Bulbar Muscular Atrophy Genetic Association Database (GAD): AR Human Genome Epidemiology (HuGE) Navigator: AR (1395 documents) Tumor Gene Database (TGDB) : AR Export disorders for AR gene to outside databases
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Publicationsfor AR gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for AR gene, integrated from 9 sources (see all 2957 ): (articles sorted by number of sources associating them with AR) Utopia : connect your pdf to the dynamic world of online information
Mutations in the androgen receptor gene are associated with progression of human prostate cancer to androgen independence. (PubMed id 9816170) 1 , 2 , 4, 9 Tilley W.D.... Bentel J.M. (1996) Structural basis for the glucocorticoid response in a mutant human androgen receptor (AR(ccr)) derived from an androgen-independent prostate cancer. (PubMed id 11906285) 1 , 2 , 7 Matias P.M.... Donner P. (2002) Polymorphism of the androgen receptor gene is associated with male pattern baldness. (PubMed id 11231320) 1 , 2 , 4 Ellis J.A.... Harrap S.B. (2001) An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF- 2 transcriptional activating function core is associated with complete androgen insensitivity. (PubMed id 10221770) 1 , 2 , 4 Peters I....Spindler K.D. (1999) Androgen receptor gene mutations are rarely associated with isolated penile hypospadias. (PubMed id 8683794) 1 , 2 , 4 Sutherland R.W.... Lamb D.J. (1996) Mutant androgen receptors in prostatic tumors distinguish between amino-acid-sequence requirements for transactivation and ligand binding. (PubMed id 7591265) 1 , 2 , 6 Peterziel H.... Cato A.C.B. (1995) Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. (PubMed id 8096390) 1 , 2 , 4 Lobaccaro J.-M.... Sultan C. (1993) Cloning, structure and expression of a cDNA encoding the human androgen receptor. (PubMed id 3377788) 1 , 2 , 3 Trapman J....Brinkmann A.O. (1988) Molecular cloning of human and rat complementary DNA encoding androgen receptors. (PubMed id 3353726) 1 , 2 , 3 Chang C.... Liao S. (1988) Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. (PubMed id 2082179) 1 , 2 , 9 Brown T.R....Corfen J.L. (1990)
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External Searches for AR gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing AR gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing AR gene
(According to HUGE )
About This Section --
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Specialized Databases showing AR gene (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
Name Description
PharmGKB entry for AR Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for AR Genetics and Cytogenetics in Oncology and Haematology Androgen receptor gene mutations database http://androgendb.mcgill.ca GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AR Wikipedia http://en.wikipedia.org/wiki/Androgen_receptor
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About This Section Patent Information for AR gene: Search GeneIP for patents involving AR GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor AR gene (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 , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , 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 Advanced Cell Diagnostics About This Section
OriGene Antibodies for AR OriGene shRNA RFP for AR OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for AR OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for AR OriGene Protein Over-expression Lysate for AR Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for AR OriGene 3'-UTR Clone for AR OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AR OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for AR Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for AR OriGene Custom Protein Services for AR OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AR QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing AR QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat AR QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat AR QIAGEN QuantiFast Probe-based Assays in human , mouse , rat AR QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat AR
Antibodies & Assays for AR  
Tocris compounds for AR
AR Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AR
ThermoFisher Antibody for AR
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AR
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