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AR Gene

protein-coding GIFtS: 75

GC0XP066680

androgen receptor
(Previous names: dihydrotestosterone receptor, spinal and bulbar muscular atrophy )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: DHTR, SBMA)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
AIS ^¹, ²
DHTR ^², ³, ⁵
HUMARA ^¹, ²
HYSP1 ^², ⁵
KD ^², ⁵
NR3C4 ^¹, ², ³
OTTHUMP00000023450 ^²
OTTHUMP00000061928 ^²
SBMA ^², ⁵
SMAX1 ^¹, ², ⁵
TFM ^², ⁵

Descriptions
Dihydrotestosterone receptor ^¹, ², ³
Nuclear receptor subfamily 3 group C member 4 ^³
androgen receptor ^²
spinal and bulbar muscular atrophy ^¹

External Ids
HGNC: 644¹
Entrez Gene: 367²
UniProtKB: P10275³
Ensembl: ENSG00000169083⁷

Search outside databases for aliases for AR gene

Previous GC identifers: GC0XP062984 GC0XP064229 GC0XP064997 GC0XP065630 GC0XP066546

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

EntrezGene 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]

UniProtKB/Swiss-Prot: ANDR_HUMAN, P10275

Function: Steroid hormone receptors are ligand-activated transcription factors that regulate

eukaryotic gene expression and 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

Gene Wiki entry for AR (Androgen_receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the AR gene

Entrez Gene cytogenetic band: Xq11.2-q12 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 gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP066680: (about GC identifiers)

Start:	66,680,599 bp from pter
End:	66,860,844 bp from pter
Size:	180,246 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000023.9 NT_011669.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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 HIPK3 and NR0B2 in the presence of androgen. The ligand binding domain interacts

with MYST2/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)

Subcellular location: Nucleus

Miscellaneous: In the absence of ligand, steroid hormone receptors are thought to be weakly

associated with nuclear components; 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 in response to hormone-ablation therapy. Inhibition of tyrosine phosphorylation

may be an effective intervention target for hormone-refractory prostate cancer

PDB structures from and Proteopedia :

1E3G (3D)

1GS4 (3D)

1T5Z (3D)

1T63 (3D)

1T65 (3D)

1XJ7 (3D)

1XOW (3D)

1XQ3 (3D)

1Z95 (3D)

2AM9 (3D)

2AMA (3D)

2AMB (3D)

2AO6 (3D)

2AX6 (3D)

2AX7 (3D)

2AX8 (3D)

2AX9 (3D)

2AXA (3D)

2HVC (3D)

2OZ7 (3D)

2PIO (3D)

2PIP (3D)

2PIQ (3D)

2PIR (3D)

2PIT (3D)

2PIU (3D)

2PIV (3D)

2PIW (3D)

2PIX (3D)

2PKL (3D)

2PNU (3D)

2Q7I (3D)

2Q7J (3D)

2Q7K (3D)

2Q7L (3D)

2Z4J (3D)

3B5R (3D)

3B65 (3D)

3B66 (3D)

3B67 (3D)

3B68 (3D)

3BTR (3D)

Secondary accessions: A2RUN2 B1AKD7

Alternative splicing: 2 isoforms: P10275-1 P10275-2

Post-translational modifications:

Sumoylated on Lys-386 (major) and Lys-520¹

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 progression¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000035.2 NP_001011645.1

ENSEMBL proteins:

ENSP00000379358 ENSP00000379359 ENSP00000363822

Human Recombinant Proteins

	Invitrogen human recombinant proteins for AR
	Millipore Purified and/or Recombinant AR Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Androgen Receptor)
	Human Recombinant Proteins from Abnova (AR)

OriGene Purified Recombinant Human Protein: AR

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	15572661
GO:0005737	cytoplasm	IDA	15572661

About this table

Antibodies for AR:

	Invitrogen Antibodies for AR
	Millipore Mono- and Polyclonal Antibodies for the study of AR
	Sigma-Aldrich Antibody Arrays and Antibodies for AR
	R&D Systems Antibodies for AR (Androgen R/NR3C4)
	Cell Signaling Technology (CST) Antibodies for AR
	Antibodies from Abcam (Androgen Receptor), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (AR)
	Novus Biologicals Antibodies for AR

Assays for AR:

	Invitrogen Assays for AR
	Millipore Kits and Assays for the Analysis of AR
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

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 steroid-binding domain. 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 subfamily

Similarity: Contains 1 nuclear receptor DNA-binding domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (AR)
		Millipore RNAi Products for the Analysis of AR Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (AR)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000044

Applied Biosystems Silencer® siRNAs for AR

Sigma-Aldrich siRNA and siRNA Panels for AR

Sigma-Aldrich shRNA Panels and shRNA for AR

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000044
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000044
untagged cDNA clones in CMV expression vector (see all 2): NM_000044

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000044

UniProtKB/Swiss-Prot: ANDR_HUMAN, P10275

Function: Steroid hormone receptors are ligand-activated transcription factors that regulate

eukaryotic gene expression and 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

Genatlas biochemistry entry for AR:

androgen receptor,steroid/thyroid hormone,receptor superfamily

15/20 MGI mutant phenotypes (inferred from 18 alleles) (MGI details for Ar) (see all 20 ):

	adipose tissue	behavior/neurological	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
life span-post-weaning/aging	limbs/digits/tail	muscle	nervous system	no phenotypic analysis

5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	transcription factor activity	IDA	15572661
GO:0004872	receptor activity	IEA	--
GO:0004882	androgen receptor activity	TAS	15572661
GO:0005102	receptor binding	IPI	11875111
GO:0005497	androgen binding	NAS	10075738

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

3 Sigma-Aldrich "Your Favorite Gene" Pathways for AR (Your Favorite Gene powered by Ingenuity)

Androgen Signaling
Glucocorticoid Receptor Signaling
Prostate Cancer Signaling

GeneDecks AR for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for AR

5/225 Interacting proteins for AR (ENSP00000363822³ P10275^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 225 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FOXO1	Q12778¹	STRING (score=.988) EBI-608057, EBI-1108782
HIF1A	Q16665¹	STRING (score=.766) EBI-608057, EBI-447269
MDM2	Q00987¹	STRING (score=.954) EBI-608057, EBI-389668
NCOA4	Q13772¹	STRING (score=.999) EBI-608057, EBI-954501
PARK7	Q99497¹	STRING (score=.975) EBI-608057, EBI-1164361

About this table

5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001701	in utero embryonic development	IEA	--
GO:0006810	transport	TAS	10835690
GO:0007165	signal transduction	TAS	10835690
GO:0007267	cell-cell signaling	TAS	10835690
GO:0007548	sex differentiation	NAS	10075738

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for AR

Sigma-Aldrich Small Molecules for AR:

Mixed Agonist/Antagonist Activator Antagonist Blocker Inhibitor Ligand

Compounds for AR available from Tocris Bioscience

Compound	Action	CAS number
Testosterone	Endogenous androgen receptor agonist	[58-22-0]
Nilutamide	Androgen receptor antagonist. Orally active	[63612-50-0]
Spironolactone	Mineralocorticoid receptor antagonist	[52-01-7]
Bicalutamide	Non-steroidal androgen receptor antagonist	[90357-06-5]
Finasteride	Type II 5alpha-reductase inhibitor	[98319-26-7]

About this table

10/31 Novoseek chemical compound relationships for AR gene (see all 31 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
r1881	86.09	30	18591159 (3), 7784269 (3), 1526623 (2), 2214782 (1) (see all 19)
mibolerone	79.95	15	2214782 (1), 2127955 (1), 8446106 (1), 1722054 (1) (see all 11)
steroid	78.81	224	12923188 (3), 2177837 (3), 8067700 (2), 8043498 (2) (see all 99)
progesterone	73.74	212	11397870 (5), 11825917 (4), 14667996 (3), 16165177 (3) (see all 99)
hpaii	73.30	30	10706095 (2), 11903357 (1), 15923273 (1), 11751063 (1) (see all 28)
f 394	69.54	5	8307781 (1), 9586625 (1), 7516317 (1)
ar-45	69.54	10	15634333 (5), 17574777 (1), 18599551 (1)
(15n)glycine	64.10	20	16804045 (3), 17601880 (2), 9610786 (1), 11016637 (1) (see all 13)
2-(((3,5-dichlorophenyl)carbamoyl)oxy)-2-methyl-3-butenoic acid	62.58	1	16750840 (1)
3',5'-dichloro-2-hydroxy-2-methylbut-3-enanilide	60.83	1	16750840 (1)

About this table

1 PharmGKB drug compound relationship for AR gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
testosterone	CO PD GN	15579779

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (AR)
		Millipore RNAi Products for the Analysis of AR Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (AR)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000044

Sigma-Aldrich siRNA and siRNA Panels for AR

Sigma-Aldrich shRNA Panels and shRNA for AR

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000044 NM_001011645

REFSEQ mRNAs for AR gene (2 alternative transcripts):

NM_000044.2 NM_001011645.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000044 NM_001011645

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000044
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000044
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000044

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 L29496.1 M20132.1 M20260.1 M21748.1 M23263.1

M34233.1 M73069.1

6 DOTS entries:

DT.113163 DT.97839012 DT.91712255 DT.75139451 DT.91665721 DT.121314197

22 AceView cDNA sequences:

AI659563 AF321917 AW294182 AL704463 AF321915 NM_000044 M20260 AF321916

L29496 M20132 AA230070 BE858867 M34233 M23263 AF162704 AF321914

AW951855 AA229063 CF140197 BX106842 T28396 AF324243

highest scoring ESTs for AR:

AA229062 AA229063 AA229714 AA230070 AA524966 AA659567 AI659563 AW294182 BX106842 L29496

Unigene Cluster for AR:

Androgen receptor

Hs.496240 [show with all ESTs]

Unigene Representative Sequence: NM_000044

GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:

ENST00000396043 ENST00000396044 ENST00000374690

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

AR expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for AR

¹ / ² / ³

6 probe-sets matching AR gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1577_at²^{, 3}	U95-A	1	1.00	1.00	0.94	0.91	M23263	0.80	1.00	0.91	1
1578_g_at²^{, 3}	U95-A	1	1.00	1.00	0.69	1.10	M23263	0.80	1.00	0.91	1
211621_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M73069	0.40	1.00	0.76	1
211110_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF162704	0.60	1.00	0.82	1
211621_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211110_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GCACCTTCAG

SOURCE GeneReport for Unigene cluster: Hs.496240
Expression variation in blood from EXPOLDB for AR
UniProtKB/Swiss-Prot: ANDR_HUMAN, P10275
Tissue specificity: Isoform 2 is mainly expressed in heart and skeletal muscle

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for AR gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	AR¹	--	androgen receptor	89.11(n) 92.57(a)	403588 NM_001003053.1 NP_001003053.1
chimpanzee (Pan troglodytes)	AR¹	--	androgen receptor	88.35(n) 86.28(a)	747460 XM_001157062.1 XP_001157062.1
cow (Bos taurus)	AR¹	--	androgen receptor (dihydrotestosterone receptor; testicular more	87.72(n) 88.65(a)	539724 XM_588979.2 XP_588979.1
rat (Rattus norvegicus)	Ar¹	--	androgen receptor	88.08(n) 90.05(a)	24208 NM_012502.1 NP_036634.1
mouse (Mus musculus)	Ar^{1, 5}	X (36.00 cM)⁵	androgen receptor^{1, 5}	87.88(n)¹ 89.47(a)¹	11835¹ NM_013476.3¹ NP_038504.1¹ AK037070⁵ AK054123⁵ (see all 22)

About this table Species with no ortholog for AR

ENSEMBL Gene Tree for AR

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for AR gene

NR3C2² PGR² NR3C1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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 17 to 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 equal to 23 may be associated with the development of androgenetic alopecia

10/375 NCBI SNPs in AR are shown (see all 375 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 116)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1204038^1,2	C,F,H,O	66704950(-)	`CCCTTC/TCCTGT`	2	--	int¹ ng5¹ trp³		12	EU EA WA NA MN CSAM	864
--	rs9332971^1,2	C,F,H	66859511(+)	`AAGACG/ACTTCT`	2	H/R	mis¹ ese³		9	EA EU WA	712
	rs9332970^1,2	C,H	66859472(+)	`TATCAT/CTGCAT`	2	T/I	mis¹ ese³		5	EA EU WA	414
	rs2070757^1,2	C,H	66678658(+)	`ATTGGC/TAACAG`	1	--	ng5¹		4	EU EA WA	416
--	rs9332968^1,2	C,H	66848077(+)	`ACACAT/CTGAAG`	2	T/I	mis¹ ese³		5	EA EU WA	416
	rs12395102^1,2	H	66703636(+)	`TATTCC/AACACC`	2	--	int¹ ng5¹		4	EU EA WA	382
	rs12558349^1,2	H	66705519(+)	`AGGGAA/CCCAGG`	2	--	int¹ ut5¹		4	EU EA WA	416
--	rs6153^1,2	C,F,H	66859461(+)	`GAACTC/TGATCG`	2	L/L	syn¹		11	MN CSAM EA EU WA NA	1073
	rs6152^1,2	C,F,H	66682352(+)	`AGGGAG/AGCCTC`	1	E/E	syn¹ ese³		9	MN CSAM EA WA	788
	rs6154^1,2	C,F	66779949(+)	`TGCAAG/AGTCTT`	2	K/K	syn¹		6	MN CSAM EA	488

About this table

HapMap Linkage Disequilibrium images for AR (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 313700 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. SMAX1 is 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

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

10/95 Novoseek disease relationships for AR gene (see all 95 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
androgen insensitivity syndrome	93.32	90	9039340 (2), 11549642 (2), 11282274 (1), 11684838 (1) (see all 77)
prostate cancer	93.05	1965	12970746 (8), 16598769 (6), 8827083 (6), 18800375 (6) (see all 99)
androgen insensitivity syndrome partial	90.40	22	9177411 (3), 1472458 (2), 8325932 (1), 8834252 (1) (see all 15)
androgen insensitivity syndrome complete	87.40	33	9177411 (2), 9610419 (1), 10092153 (1), 10323385 (1) (see all 31)
kennedy disease	86.62	29	7852512 (3), 7489816 (2), 16981011 (2), 8065934 (1) (see all 24)
spinobulbar muscular atrophy	78.76	11	9177411 (2), 9466993 (1), 9642623 (1), 11751688 (1) (see all 9)
prostate carcinoma	75.11	97	15029260 (3), 7541709 (3), 7971517 (3), 9267828 (3) (see all 66)
virilization	72.43	31	9360511 (3), 12242031 (3), 15713272 (2), 15522944 (2) (see all 20)
recurrent prostate cancer	69.36	19	14532783 (4), 14662770 (3), 16619264 (2), 15833875 (1) (see all 9)
benign prostatic hyperplasia	64.99	40	14654929 (2), 9816246 (2), 12845678 (1), 16483160 (1) (see all 30)

About this table

1 PharmGKB disease relationship for AR gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Klinefelter Syndrome	CO PD GN	15579779

About this table

GeneTests: AR

Androgen Insensitivity Syndrome

Human Gene Mutation Database: AR
Genetic Association Database: AR
Human Genome Epidemiology Navigator: AR (1009 documents)
Tumor Gene Database: AR

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/2101 PubMed articles for AR gene (see all 2101 ):

Mutations in the androgen receptor gene are associated with progression of human prostate cancer to androgen independence. (PubMed id 9816170)^{1, 3, 4, 6} Tilley W.D.... Bentel J.M. (1996)
Polymorphism of the androgen receptor gene is associated with male pattern baldness. (PubMed id 11231320)^{3, 4, 6} 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)^{3, 4, 6} Peters I....Spindler K.D. (1999)
Androgen receptor gene mutations are rarely associated with isolated penile hypospadias. (PubMed id 8683794)^{3, 4, 6} Sutherland R.W.... Lamb D.J. (1996)
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. (PubMed id 8096390)^{3, 4, 6} Lobaccaro J.-M.... Sultan C. (1993)
Cloning, structure and expression of a cDNA encoding the human androgen receptor. (PubMed id 3377788)^{2, 3, 4} Trapman J....Brinkmann A.O. (1988)
Molecular cloning of human and rat complementary DNA encoding androgen receptors. (PubMed id 3353726)^{2, 3, 4} Chang C.... Liao S. (1988)
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. (PubMed id 2082179)^{1, 3, 4} Brown T.R....Corfen J.L. (1990)
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. (PubMed id 9039340)^{1, 3, 4} Weidemann W.... Spindler K.D. (1996)
Androgen receptor function is modulated by the tissue-specific AR45 variant. (PubMed id 15634333)^{1, 3, 4} Ahrens-Fath I....Haendler B. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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, and/or H-InvDB)
About This Section

Entrez Gene: 367	HGNC: 644	AceView: AR	Ensembl:ENSG00000169083	euGenes: HUgn367
ECgene: AR	H-InvDB: AR

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for AR	Genetics and Cytogenetics in Oncology and Haematology
Androgen receptor gene mutations database	http://www.mcgill.ca/androgendb/
GeneReviews	http://www.genetests.org/query?gene=AR

Licensable Technologies for AR
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for AR:

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AR Gene

protein-coding GIFtS: 75

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Gene Index: 3 5 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

AR Gene

protein-coding GIFtS: 75

Aliases & Descriptionsfor AR

Summariesfor AR

Genomic Locationfor AR

Proteinsfor AR

Protein Domains/Familiesfor AR

Gene Functionfor AR

Pathways & Interactionsfor AR

Drugs & Compoundsfor AR

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Genome Databases showing AR

Other Databases showing AR

Specialized Databases showing AR

Licensable Technologiesfor AR

Servicesfor AR

Gene Index: 3 5 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

Aliases &
Descriptions
for AR

Summaries
for AR

Genomic Location
for AR

Proteins
for AR

Protein Domains/
Families
for AR

Gene Function
for AR

Pathways & Interactions
for AR

Drugs & Compounds
for AR

Transcripts
for AR

Expression
for AR

Orthologs
for AR

Paralogs
for AR

SNPs/Variants
for AR

Disorders & Mutations
for AR

Medical News
for AR

Publications
for AR

Licensable Technologies
for AR

Services
for AR