AR Gene (Protein Coding)

Androgen Receptor

GC0XP067544
GIFtS:
54
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, dimeriz... See more...

Aliases for AR Gene

Aliases for AR Gene

  • Androgen Receptor 2 3 4 5
  • Dihydrotestosterone Receptor 2 3 4
  • Nuclear Receptor Subfamily 3 Group C Member 4 3 4
  • NR3C4 3 4
  • DHTR 3 4
  • Spinal And Bulbar Muscular Atrophy 2
  • Testicular Feminization 2
  • Kennedy Disease 2
  • HUMARA 3
  • HYSP1 3
  • SMAX1 3
  • SBMA 3
  • AIS 3
  • AR8 3
  • TFM 3
  • KD 3

External Ids for AR Gene

Previous HGNC Symbols for AR Gene

  • DHTR
  • SBMA

Previous GeneCards Identifiers for AR Gene

  • GC0XP062984
  • GC0XP064229
  • GC0XP064997
  • GC0XP065630
  • GC0XP066546
  • GC0XP066680
  • GC0XP066763
  • GC0XP060592

Summaries for AR Gene

Entrez Gene Summary for AR Gene

  • 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 from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]

CIViC Summary for AR Gene

GeneCards Summary for AR Gene

AR (Androgen Receptor) is a Protein Coding gene. Diseases associated with AR include Androgen Insensitivity, Partial and Spinal And Bulbar Muscular Atrophy, X-Linked 1. Among its related pathways are Transcription Androgen Receptor nuclear signaling and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is NR3C2.

UniProtKB/Swiss-Prot Summary for AR Gene

  • 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 like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.
  • Isoform 3 and isoform 4 lack the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.

Tocris Summary for AR Gene

  • Androgen receptors (ARs) (dihydrotestosterone receptors) are nuclear hormone receptors of the NR3C class, which includes mineralocorticoid, progesterone and glucocorticoid receptors. ARs are expressed in bone marrow, mammary gland and prostate tissues.

Gene Wiki entry for AR Gene

Additional gene information for AR Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AR Gene

Genomics for AR Gene

GeneHancer (GH) Regulatory Elements for AR Gene

Promoters and enhancers for AR Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ067543 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 756.3 +3.7 3669 8.6 SP1 ZNF547 SP2 SCRT2 ZBTB26 ZFP69B RAD21 EZH2 RXRA YY1 AR 5MWI_A-206 piR-61532-355
GH0XJ066728 Promoter/Enhancer 1.1 ENCODE CraniofacialAtlas 5.1 -815.1 -815134 1.1 CTCF SMARCE1 ZNF362 CC2D1A L3MBTL2 RAD21 MNT TEAD4 SP7 SMARCA4 ENSG00000217835 AR piR-61240-322 L13714-496
GH0XJ068163 Enhancer 0.5 Ensembl ENCODE 10 +619.8 619780 2.8 NFE2 JUN AR piR-30048-046 piR-45012-575 OPHN1 RF00017-8485
GH0XJ067779 Enhancer 0.8 Ensembl ENCODE 5.5 +236.4 236380 3.6 TEAD4 NFIB CTCF CBFA2T2 HDAC1 EP300 GABPA FOSL1 NCOR1 NFIC AR lnc-OPHN1-5 LOC105373241
GH0XJ068114 Enhancer 0.6 Ensembl ENCODE 6.9 +571.0 570980 1.6 LCORL SMARCC2 JUND NFIC POLR2A piR-51878-045 AR RF00026-1174 RNU6-1225P OPHN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AR gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • Sp1

Genomic Locations for AR Gene

Genomic Locations for AR Gene
chrX:67,544,021-67,730,619
(GRCh38/hg38)
Size:
186,599 bases
Orientation:
Plus strand
chrX:66,763,874-66,950,461
(GRCh37/hg19)
Size:
186,588 bases
Orientation:
Plus strand

Genomic View for AR Gene

Genes around AR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AR Gene

Proteins for AR Gene

Products:

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  • Protein details for AR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10275-ANDR_HUMAN
    Recommended name:
    Androgen receptor
    Protein Accession:
    P10275
    Secondary Accessions:
    • A0A0B4J1T2
    • A2RUN2
    • B1AKD7
    • C0JKD3
    • C0JKD4
    • E7EVX6
    • Q9UD95

    Protein attributes for AR Gene

    Size:
    920 amino acids
    Molecular mass:
    99188 Da
    Quaternary structure:
    • 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 KAT7/HBO1 in the presence of dihydrotestosterone. Interacts with EFCAB6/DJBP, PELP1, PQBP1, RANBP9, RBAK, SPDEF, SRA1, TGFB1I1 and RREB1. Interacts with ZMIZ1/ZIMP10 and ZMIZ2/ZMIP7 which both enhance its transactivation activity. Interacts with SLC30A9 and RAD54L2/ARIP4. 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 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. Interacts with CRY1. Interacts with CCAR1 and GATA2. Interacts with ZNF318 (By similarity). Interacts with BUD31 (PubMed:25091737). Interacts with ARID4A (PubMed:23487765). Interacts with ARID4B (By similarity). Interacts (via NR LBD domain) with ZBTB7A; the interaction is direct and androgen-dependent (PubMed:20812024). Interacts with NCOR1 (PubMed:20812024). Interacts with NCOR2 (PubMed:20812024). Interacts with CRY2 in a ligand-dependent manner (By similarity).
    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.
    • Transcriptional activity is enhanced by binding to RANBP9.
    • 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.

    Three dimensional structures from OCA and Proteopedia for AR Gene

    Alternative splice isoforms for AR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AR Gene

Protein Expression for AR Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AR Gene

  • Sumoylated on Lys-388 (major) and Lys-521. Ubiquitinated. Deubiquitinated by USP26. 'Lys-6' and 'Lys-27'-linked polyubiquitination by RNF6 modulates AR transcriptional activity and specificity.
  • Phosphorylated in prostate cancer cells in response to several growth factors including EGF. Phosphorylation is induced by c-Src kinase (CSK). Tyr-535 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-83 by CDK9 regulates AR promoter selectivity and cell growth. Phosphorylation by PAK6 leads to AR-mediated transcription inhibition.
  • Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation.
  • Ubiquitination at Lys846 and Lys848
  • Modification sites at PhosphoSitePlus

Other Protein References for AR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Invitrogen Antibodies for AR (AFLGC-AR)

No data available for DME Specific Peptides for AR Gene

Domains & Families for AR Gene

Gene Families for AR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Nuclear receptors
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for AR Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AR Gene

GenScript: Design optimal peptide antigens:
  • Nuclear receptor subfamily 3 group C member 4 (ANDR_HUMAN)
  • Androgen receptor splice variant 3 (C0JKD3_HUMAN)
  • Androgen receptor splice variant 4 (C0JKD4_HUMAN)
  • Androgen receptor splice variant 4b (C0JKD5_HUMAN)
  • Androgen receptor splice variant 5 (C0JKD6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10275

UniProtKB/Swiss-Prot:

ANDR_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-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 (PubMed:25091737). 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.
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-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 (PubMed:25091737). 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.
Family:
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
genes like me logo Genes that share domains with AR: view

Function for AR Gene

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Molecular function for AR Gene

UniProtKB/Swiss-Prot 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 like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.
UniProtKB/Swiss-Prot Function:
Isoform 3 and isoform 4 lack the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.
UniProtKB/Swiss-Prot EnzymeRegulation:
AIM-100 (4-amino-5,6-biaryl-furo[2,3-d]pyrimidine) suppresses TNK2-mediated phosphorylation at Tyr-269. Inhibits the binding of the Tyr-269 phosphorylated form to androgen-responsive enhancers (AREs) and its transcriptional activity.
GENATLAS Biochemistry:
androgen receptor,steroid/thyroid hormone,receptor superfamily

Phenotypes From GWAS Catalog for AR Gene

Gene Ontology (GO) - Molecular Function for AR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 16728402
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001085 RNA polymerase II transcription factor binding IPI 16120611
GO:0001091 RNA polymerase II basal transcription factor binding IPI 20181722
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 16728402
genes like me logo Genes that share ontologies with AR: view
genes like me logo Genes that share phenotypes with AR: view

Human Phenotype Ontology for AR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AR Gene

MGI Knock Outs for AR:
  • Ar Ar<tm1Ska>
  • Ar Ar<tm1.1Jdz>
  • Ar Ar<tm1.1Verh>
  • Ar Ar<tm1.1Chc>
  • Ar Ar<tm1.1Reb>

Animal Model Products

  • Taconic Biosciences Mouse Models for AR

CRISPR Products

miRNA for AR Gene

miRTarBase miRNAs that target AR
Targeted motifs for AR Gene
HOMER Transcription Factor Regulatory Elements motif AR
  • Consensus sequence: AGAACAGNCTGTTCTT Submotif: canonical Cell Type: LNCAP GEO ID: GSE27824

Clone Products

  • Addgene plasmids for AR

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for AR Gene

Localization for AR Gene

Subcellular locations from UniProtKB/Swiss-Prot for AR Gene

Nucleus. Cytoplasm. Note=Detected at the promoter of target genes (PubMed:25091737). Predominantly cytoplasmic in unligated form but translocates to the nucleus upon ligand-binding. Can also translocate to the nucleus in unligated form in the presence of RACK1. {ECO:0000269 PubMed:12958311, ECO:0000269 PubMed:17587566, ECO:0000269 PubMed:25091737}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AR gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 17277772
GO:0005634 nucleus IEA,IDA 15572661
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 15572661
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AR: view

Pathways & Interactions for AR Gene

genes like me logo Genes that share pathways with AR: view

SIGNOR curated interactions for AR Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for AR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 12902338
GO:0001701 in utero embryonic development IEA --
GO:0003073 regulation of systemic arterial blood pressure IEA --
GO:0003382 epithelial cell morphogenesis IEA --
GO:0006351 transcription, DNA-templated IDA 15572661
genes like me logo Genes that share ontologies with AR: view

Drugs & Compounds for AR Gene

Products:

  1. Drug

(197) Drugs for AR Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nilutamide Approved, Investigational Pharma Antagonist, Target, antagonist Androgen receptor antagonist. Orally active 14
Bicalutamide Approved Pharma Target, antagonist Androgen receptor antagonist 191
Flutamide Approved, Investigational Pharma Target, antagonist 68
Testosterone Approved, Experimental, Investigational Pharma Target, agonist Endogenous androgen receptor agonist 664
Fluoxymesterone Approved, Illicit Pharma Target, agonist 0

(50) Additional Compounds for AR Gene - From: Novoseek, HMDB, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]R1881
Agonist
Androsterone
  • (3alpha,5alpha)-3-Hydroxyandrostan-17-one
  • 3-Epihydroxyetioallocholan-17-one
  • 3alpha-Hydroxy-5alpha-androstan-17-one
  • 3alpha-Hydroxyetioallocholan-17-one
  • 5alpha-Androstane-3alpha-ol-17-one
 53-41-8

(4) Tocris Compounds for AR Gene

Compound Action Cas Number
Cl-4AS-1 Steroidal androgen receptor agonist 188589-66-4
Nilutamide Androgen receptor antagonist. Orally active 63612-50-0
Testosterone Endogenous androgen receptor agonist 58-22-0
TFM-4AS-1 Selective androgen receptor modulator (SARM) 188589-61-9

(28) ApexBio Compounds for AR Gene

Compound Action Cas Number
17 alpha-propionate Androgen antagonist 19608-29-8
Andarine Androgen receptor agonist 401900-40-1
ARN-509 Androgen receptor inhibitor 956104-40-8
ASC-J9 AR degradation enhancer,antiumor agent 52328-98-0
AZD3514 Androgen receptor downregulator 1240299-33-5
Bicalutamide Androgen receptor antagonist 90357-06-5
BMS-564929 Androgen receptor (AR) modulator 627530-84-1
CITCO 338404-52-7
Cl-4AS-1 188589-66-4
Cyproterone Acetate Androgen receptor antagonist 427-51-0
Epiandrosterone 481-29-8
Estradiol valerate 979-32-8
Flutamide 13311-84-7
Genistein AR agonist 446-72-0
MDV3100 (Enzalutamide) Androgen receptor antagonist 915087-33-1
MK-0773 Selective androgen receptor modulators 606101-58-0
MK-2866 (GTx-024) Selective androgen receptor modulator 841205-47-8
ODM-201 new-generation androgen receptor inhibitor 1297538-32-9
Orteronel For castration-resistant prostate cancer, clinical candidate 566939-85-3
PF 998425 1076225-27-8
RU 58841 Androgen receptor antagonist 154992-24-2
Spironolactone 1952-01-7
TAK-700 (Orteronel) Human 17,20-lyase inhibitor 426219-18-3
TAK-700 R-form 17, 20-lyase inhibitor 752243-39-3
TAK-700 salt Androgen synthesis inhibitor 426219-53-6
TCPOBOP 76150-91-9
TFM-4AS-1 188589-61-9
TOK-001 CYP17 inhibitor and androgen receptor (AR) antagonist 851983-85-2
genes like me logo Genes that share compounds with AR: view

Transcripts for AR Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AR Gene

(5) REFSEQ mRNAs :
(27) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for AR

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

No ASD Table

Relevant External Links for AR Gene

GeneLoc Exon Structure for
AR
ECgene alternative splicing isoforms for
AR

Expression for AR Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AR Gene

mRNA expression in normal human tissues for AR Gene
mRNA expression by GTEx for AR GenemRNA expression by BioGPS for AR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x5.6).

Protein differential expression in normal tissues from HIPED for AR Gene

This gene is overexpressed in Liver (60.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AR Gene



Protein tissue co-expression partners for AR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AR Gene:

AR

SOURCE GeneReport for Unigene cluster for AR Gene:

Hs.76704

mRNA Expression by UniProt/SwissProt for AR Gene:

P10275-ANDR_HUMAN
Tissue specificity: Isoform 2 is mainly expressed in heart and skeletal muscle (PubMed:15634333). Isoform 3 is expressed by basal and stromal cells of prostate (at protein level) (PubMed:19244107).

Evidence on tissue expression from TISSUES for AR Gene

  • Liver(4.7)
  • Nervous system(4.6)
  • Blood(4.5)
  • Muscle(3)
  • Kidney(2.6)
  • Skin(2.5)
  • Heart(2.3)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • face
  • head
  • hypothalamus
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • pituitary gland
  • skull
  • tongue
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with AR: view

Orthologs for AR Gene

This gene was present in the common ancestor of chordates.

Orthologs for AR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AR 33
  • 96 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia AR 33 32
  • 90.43 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia AR 33 32
  • 89.11 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ar 32
  • 88.05 (n)
mouse
(Mus musculus)
 Mammalia Ar 17 33 32
  • 87.88 (n)
oppossum
(Monodelphis domestica)
 Mammalia AR 33
  • 80 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves AR 33 32
  • 70.8 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia AR 33
  • 91 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ar 32
  • 67.45 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.426 32
zebrafish
(Danio rerio)
 Actinopterygii ar 33
  • 41 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.12054 32
Species where no ortholog for AR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AR Gene

ENSEMBL:
Gene Tree for AR (if available)
TreeFam:
Gene Tree for AR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AR: view image

Paralogs for AR Gene

Paralogs for AR Gene

(16) SIMAP similar genes for AR Gene using alignment to 21 proteins:

  • ANDR_HUMAN
  • C0JKD3_HUMAN
  • C0JKD4_HUMAN
  • C0JKD5_HUMAN
  • C0JKD6_HUMAN
  • C0JKD7_HUMAN
  • D2KF13_HUMAN
  • D2Y6K2_HUMAN
  • D3YPP9_HUMAN
  • D3YPQ0_HUMAN
  • D3YPQ1_HUMAN
  • D3YPQ2_HUMAN
  • D3YPQ3_HUMAN
  • D5M8Q2_HUMAN
  • E7EVX6_HUMAN
  • E9PEG3_HUMAN
  • F5GZG9_HUMAN
  • Q13771_HUMAN
  • Q9UKJ6_HUMAN
  • V9GZH8_HUMAN
  • V9TLK5_HUMAN
genes like me logo Genes that share paralogs with AR: view

Variants for AR Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for AR Gene

ANDR_HUMAN-P10275
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.
ANDR_HUMAN-P10275
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.

Sequence variations from dbSNP and Humsavar for AR Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104894742 pathogenic, Partial androgen insensitivity syndrome, Androgen insensitivity, partial (PAIS) [MIM:312300] 67,545,150(+) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1057519864 not-provided, Prostate neoplasm 67,723,707(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057521122 likely-pathogenic, not provided, Androgen insensitivity syndrome (AIS) [MIM:300068] 67,722,881(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057523747 pathogenic, likely-pathogenic, Androgen resistance syndrome, not provided 67,717,562(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1064793480 pathogenic, not provided, Androgen insensitivity, partial (PAIS) [MIM:312300] 67,721,934(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
esv2740196 CNV deletion 23290073
esv2758871 CNV gain 17122850
esv3558939 CNV deletion 23714750
esv3574017 CNV loss 25503493
nsv818030 CNV gain 17921354

Variation tolerance for AR Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.54; 82.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AR Gene

Human Gene Mutation Database (HGMD)
AR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AR

SNP Genotyping and Copy Number Assay Products

Disorders for AR Gene

MalaCards: The human disease database

(84) MalaCards diseases for AR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANDR_HUMAN
  • Androgen insensitivity syndrome (AIS) [MIM:300068]: 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. {ECO:0000269 PubMed:10022458, ECO:0000269 PubMed:10221692, ECO:0000269 PubMed:10221770, ECO:0000269 PubMed:10404311, ECO:0000269 PubMed:10458483, ECO:0000269 PubMed:10571951, ECO:0000269 PubMed:10590024, ECO:0000269 PubMed:10690872, ECO:0000269 PubMed:11587068, ECO:0000269 PubMed:11744994, ECO:0000269 PubMed:1307250, ECO:0000269 PubMed:1316540, ECO:0000269 PubMed:1426313, ECO:0000269 PubMed:1430233, ECO:0000269 PubMed:1464650, ECO:0000269 PubMed:14756668, ECO:0000269 PubMed:1480178, ECO:0000269 PubMed:1487249, ECO:0000269 PubMed:1569163, ECO:0000269 PubMed:1609793, ECO:0000269 PubMed:16129672, ECO:0000269 PubMed:16595706, ECO:0000269 PubMed:1775137, ECO:0000269 PubMed:1999491, ECO:0000269 PubMed:2082179, ECO:0000269 PubMed:2594783, ECO:0000269 PubMed:7537149, ECO:0000269 PubMed:7581399, ECO:0000269 PubMed:7633398, ECO:0000269 PubMed:7641413, ECO:0000269 PubMed:7671849, ECO:0000269 PubMed:7929841, ECO:0000269 PubMed:7962294, ECO:0000269 PubMed:7970939, ECO:0000269 PubMed:7981687, ECO:0000269 PubMed:7981689, ECO:0000269 PubMed:7993455, ECO:0000269 PubMed:8040309, ECO:0000269 PubMed:8096390, ECO:0000269 PubMed:8103398, ECO:0000269 PubMed:8162033, ECO:0000269 PubMed:8224266, ECO:0000269 PubMed:8281140, ECO:0000269 PubMed:8325950, ECO:0000269 PubMed:8339746, ECO:0000269 PubMed:8413310, ECO:0000269 PubMed:8446106, ECO:0000269 PubMed:8626869, ECO:0000269 PubMed:8647313, ECO:0000269 PubMed:8683794, ECO:0000269 PubMed:8723113, ECO:0000269 PubMed:8768864, ECO:0000269 PubMed:8809734, ECO:0000269 PubMed:8830623, ECO:0000269 PubMed:8918984, ECO:0000269 PubMed:8990010, ECO:0000269 PubMed:9001799, ECO:0000269 PubMed:9007482, ECO:0000269 PubMed:9039340, ECO:0000269 PubMed:9106550, ECO:0000269 PubMed:9160185, ECO:0000269 PubMed:9252933, ECO:0000269 PubMed:9255042, ECO:0000269 PubMed:9302173, ECO:0000269 PubMed:9328206, ECO:0000269 PubMed:9544375, ECO:0000269 PubMed:9554754, ECO:0000269 PubMed:9610419, ECO:0000269 PubMed:9627582, ECO:0000269 PubMed:9698822, ECO:0000269 PubMed:9851768, ECO:0000269 PubMed:9856504, ECO:0000269 Ref.113, ECO:0000269 Ref.179}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal and bulbar muscular atrophy X-linked 1 (SMAX1) [MIM:313200]: 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. {ECO:0000269 PubMed:15851746}. Note=The disease is caused by mutations affecting the gene represented in this entry. 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. {ECO:0000269 PubMed:10363963, ECO:0000269 PubMed:10569618, ECO:0000269 PubMed:1562539, ECO:0000269 PubMed:16129672, ECO:0000269 PubMed:17311914, ECO:0000269 PubMed:2260966, ECO:0000269 PubMed:25091737, ECO:0000269 PubMed:8187068, ECO:0000269 PubMed:8274409, ECO:0000269 PubMed:8827083}.
  • Androgen insensitivity, partial (PAIS) [MIM:312300]: A disorder that 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. {ECO:0000269 PubMed:10022458, ECO:0000269 PubMed:10221692, ECO:0000269 PubMed:10470409, ECO:0000269 PubMed:10502786, ECO:0000269 PubMed:10543676, ECO:0000269 PubMed:11587068, ECO:0000269 PubMed:1303262, ECO:0000269 PubMed:1307250, ECO:0000269 PubMed:1316540, ECO:0000269 PubMed:1424203, ECO:0000269 PubMed:1430233, ECO:0000269 PubMed:14756668, ECO:0000269 PubMed:2010552, ECO:0000269 PubMed:7581399, ECO:0000269 PubMed:7649358, ECO:0000269 PubMed:7671849, ECO:0000269 PubMed:7909256, ECO:0000269 PubMed:7910529, ECO:0000269 PubMed:7929841, ECO:0000269 PubMed:7970939, ECO:0000269 PubMed:7981687, ECO:0000269 PubMed:8033918, ECO:0000269 PubMed:8097257, ECO:0000269 PubMed:8126121, ECO:0000269 PubMed:8205256, ECO:0000269 PubMed:8281139, ECO:0000269 PubMed:8325932, ECO:0000269 PubMed:8325950, ECO:0000269 PubMed:8446106, ECO:0000269 PubMed:8550758, ECO:0000269 PubMed:8809734, ECO:0000269 PubMed:8823308, ECO:0000269 PubMed:8824883, ECO:0000269 PubMed:9039340, ECO:0000269 PubMed:9196614, ECO:0000269 PubMed:9302173, ECO:0000269 PubMed:9329414, ECO:0000269 PubMed:9543136, ECO:0000269 PubMed:9607727, ECO:0000269 PubMed:9768671, ECO:0000269 PubMed:9856504, ECO:0000269 Ref.121}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypospadias 1, X-linked (HYSP1) [MIM:300633]: A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome. {ECO:0000269 PubMed:8097257}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AR

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

No data available for Genatlas for AR Gene

Publications for AR Gene

  1. Interaction between estrogens and androgen receptor genes microsatellites, prostate-specific antigen and androgen receptor expressions in breast cancer. (PMID: 20353269) Narita D … Ursoniu S (Neoplasma 2010) 3 23 43 56
  2. Androgen receptor CAG repeat length and risk of biliary tract cancer and stones. (PMID: 20200439) Meyer TE … Hsing AW (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 23 43 56
  3. Salivary testosterone and a trinucleotide (CAG) length polymorphism in the androgen receptor gene predict amygdala reactivity in men. (PMID: 19493626) Manuck SB … Hariri AR (Psychoneuroendocrinology 2010) 3 23 43 56
  4. Short alleles of both GGN and CAG repeats at the exon-1 of the androgen receptor gene are associated to increased PSA staining and a higher Gleason score in human prostatic cancer. (PMID: 19095061) Rodríguez-González G … Díaz-Chico BN (The Journal of steroid biochemistry and molecular biology 2009) 3 23 43 56
  5. The androgen receptor gene polyglycine repeat polymorphism is associated with memory performance in healthy Chinese individuals. (PMID: 19261388) Kovacs D … Li T (Psychoneuroendocrinology 2009) 3 23 43 56

ExternalLinks

View latest publications for AR gene in Mastermind

Products for AR Gene

  • Invitrogen Antibodies for AR (AFLGC-AR)
  • Addgene plasmids for AR
  • antibodies-online: