Gene

AR

Species
Homo sapiens
Symbol
AR
Name
androgen receptor
Synonyms
  • AIS
  • androgen nuclear receptor variant 2
Biotype
protein coding gene
Automated Description
Enables several functions, including ATPase binding activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and androgen binding activity. Involved in several processes, including cellular response to estrogen stimulus; nuclear receptor-mediated steroid hormone signaling pathway; and regulation of macromolecule biosynthetic process. Located in chromatin; cytosol; and nuclear speck. Part of protein-containing complex. Is active in plasma membrane. Implicated in several diseases, including alcohol dependence; attention deficit hyperactivity disorder; disorder of sexual development (multiple); reproductive organ cancer (multiple); and spinal muscular atrophy (multiple). Biomarker of ductal carcinoma in situ; hypospadias; invasive ductal carcinoma; and prostate cancer.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR48092
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusAr10 of 10YesYes  
Rattus norvegicusAr10 of 10YesYes  
Xenopus laevisar.L1 of 1YesYes           
Xenopus tropicalisar9 of 9YesYes   
Danio rerioar9 of 10YesYes  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
PGR1101546353 of 8  
NR3C2291744333 of 8  
NR3C1391444333 of 8  
ESR1457443263 of 8  
ESR2547846273 of 8  
ESRRG645044263 of 8  
ESRRB738544273 of 8  
ESRRA834046303 of 8  
NR6A1946936232 of 8  

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Abnormal circulating estrogen level
Abnormal circulating follicle-stimulating hormone concentration
Abnormal circulating lipid concentration
Abnormal HDL cholesterol concentration
Abnormal morphology of female internal genitalia
Abnormal rib cage morphology
Abnormal uterine cervix morphology
Abnormality of movement
Abnormality of secondary sexual hair
Abnormality of the endocrine system
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume

Alleles and Variants

No mapped variant information available
Allele/Variant Symbol
Allele Synonyms
Category
Variant
Variant type
Molecular consequence
Has Disease Annotations
Has Phenotype Annotations
NC_000023.11:g.67545458C>Tvariant
SNP
  • synonymous variant
NC_000023.11:g.67545743G>Avariant
SNP
  • synonymous variant
NC_000023.11:g.67545772G>Avariant
SNP
  • missense variant
NC_000023.11:g.67545785G>Avariant
SNP
  • synonymous variant
NC_000023.11:g.67546103G>Tvariant
SNP
  • synonymous variant
NC_000023.11:g.67546171C>Tvariant
SNP
  • missense variant
NC_000023.11:g.67546436C>Tvariant
SNP
  • synonymous variant
NC_000023.11:g.67546483T>Gvariant
SNP
  • missense variant
NC_000023.11:g.67545955C>Avariant
SNP
  • missense variant
NC_000023.11:g.67546630G>Avariant
SNP
  • missense variant
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Transgenic Alleles

Models

No data available

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
67.56M67.58M67.60M67.62M67.64M67.66M67.68M67.70M67.72M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Must provide at least one subject
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions