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Protein

Androgen receptor

Gene

AR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 and ZIPK/DAPK3.7 Publications
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.1 Publication

Enzyme regulationi

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.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei706 – 7061Androgen
Binding sitei753 – 7531Androgen
Binding sitei878 – 8781Androgen

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi560 – 63273Nuclear receptorPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri560 – 58021NR C4-typePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri596 – 62025NR C4-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • androgen binding Source: UniProtKB
  • androgen receptor activity Source: UniProtKB
  • ATPase binding Source: MGI
  • beta-catenin binding Source: BHF-UCL
  • chromatin binding Source: UniProtKB
  • DNA binding Source: UniProtKB
  • enzyme binding Source: UniProtKB
  • protein dimerization activity Source: UniProtKB
  • receptor binding Source: UniProtKB
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  • RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: BHF-UCL
  • sequence-specific DNA binding Source: InterPro
  • steroid binding Source: InterPro
  • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: NTNU_SB
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB
  • transcription factor binding Source: BHF-UCL
  • transcription regulatory region DNA binding Source: UniProtKB
  • zinc ion binding Source: InterPro

GO - Biological processi

  • activation of prostate induction by androgen receptor signaling pathway Source: Ensembl
  • androgen receptor signaling pathway Source: UniProtKB
  • cell-cell signaling Source: ProtInc
  • cell growth Source: UniProtKB
  • cell proliferation Source: UniProtKB
  • epithelial cell differentiation involved in prostate gland development Source: Ensembl
  • epithelial cell morphogenesis Source: Ensembl
  • gene expression Source: Reactome
  • intracellular receptor signaling pathway Source: BHF-UCL
  • in utero embryonic development Source: Ensembl
  • lateral sprouting involved in mammary gland duct morphogenesis Source: Ensembl
  • Leydig cell differentiation Source: Ensembl
  • male genitalia morphogenesis Source: Ensembl
  • male somatic sex determination Source: Ensembl
  • mammary gland alveolus development Source: Ensembl
  • morphogenesis of an epithelial fold Source: Ensembl
  • multicellular organism growth Source: Ensembl
  • negative regulation of cell proliferation Source: UniProtKB
  • negative regulation of epithelial cell proliferation Source: Ensembl
  • negative regulation of extrinsic apoptotic signaling pathway Source: BHF-UCL
  • negative regulation of integrin biosynthetic process Source: BHF-UCL
  • organ formation Source: Ensembl
  • positive regulation of cell differentiation Source: UniProtKB
  • positive regulation of cell proliferation Source: BHF-UCL
  • positive regulation of gene expression Source: UniProtKB
  • positive regulation of insulin-like growth factor receptor signaling pathway Source: Ensembl
  • positive regulation of integrin biosynthetic process Source: BHF-UCL
  • positive regulation of intracellular estrogen receptor signaling pathway Source: Ensembl
  • positive regulation of MAPK cascade Source: Ensembl
  • positive regulation of NF-kappaB transcription factor activity Source: BHF-UCL
  • positive regulation of phosphorylation Source: BHF-UCL
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription from RNA polymerase III promoter Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • prostate gland development Source: UniProtKB
  • prostate gland epithelium morphogenesis Source: Ensembl
  • prostate gland growth Source: Ensembl
  • protein oligomerization Source: MGI
  • regulation of catalytic activity Source: Ensembl
  • regulation of developmental growth Source: Ensembl
  • regulation of establishment of protein localization to plasma membrane Source: BHF-UCL
  • regulation of systemic arterial blood pressure Source: Ensembl
  • seminiferous tubule development Source: Ensembl
  • sex differentiation Source: UniProtKB
  • signal transduction Source: ProtInc
  • single fertilization Source: Ensembl
  • small GTPase mediated signal transduction Source: Reactome
  • spermatogenesis Source: Ensembl
  • tertiary branching involved in mammary gland duct morphogenesis Source: Ensembl
  • transcription, DNA-templated Source: UniProtKB
  • transcription initiation from RNA polymerase II promoter Source: Reactome
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator, Receptor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Lipid-binding, Metal-binding, Steroid-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-383280. Nuclear Receptor transcription pathway.
R-HSA-5625886. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3.
SignaLinkiP10275.

Names & Taxonomyi

Protein namesi
Recommended name:
Androgen receptor
Alternative name(s):
Dihydrotestosterone receptor
Nuclear receptor subfamily 3 group C member 4
Gene namesi
Name:AR
Synonyms:DHTR, NR3C4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:644. AR.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • nuclear chromatin Source: BHF-UCL
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • plasma membrane Source: Ensembl
  • protein complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Androgen insensitivity syndrome (AIS)71 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:300068
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21E → K in PAIS. 1 Publication
VAR_004679
Natural varianti196 – 1961Q → R in AIS. 1 Publication
VAR_009224
Natural varianti216 – 2161G → R in AIS; 20% lower transactivation capacity. 1 Publication
VAR_009715
Natural varianti257 – 2571L → P in AIS. 1 Publication
VAR_009225
Natural varianti392 – 3921P → R in AIS. 1 Publication
VAR_009226
Natural varianti392 – 3921P → S in AIS.
VAR_009227
Natural varianti445 – 4451Q → R in AIS; unknown pathological significance. 1 Publication
VAR_009228
Natural varianti492 – 4921G → S in AIS.
VAR_009719
Natural varianti548 – 5481L → F in PAIS.
VAR_009721
Natural varianti549 – 5491P → S in AIS. 1 Publication
VAR_009722
Natural varianti560 – 5601C → Y in AIS. 1 Publication
VAR_009723
Natural varianti569 – 5691G → W in PAIS. 1 Publication
VAR_009726
Natural varianti572 – 5721Y → C in AIS. 1 Publication
VAR_009727
Natural varianti574 – 5741A → D in AIS; defective DNA binding and transactivation. 1 Publication
VAR_009728
Natural varianti577 – 5771C → F in AIS; lack of DNA binding.
VAR_009731
Natural varianti577 – 5771C → R in AIS. 1 Publication
VAR_009732
Natural varianti580 – 5801C → F in AIS; reduced transcription and DNA binding. 1 Publication
VAR_009733
Natural varianti580 – 5801C → Y in AIS.
VAR_009734
Natural varianti582 – 5821V → F in AIS. 2 Publications
VAR_009736
Natural varianti583 – 5831F → S in PAIS. 1 Publication
VAR_009737
Natural varianti583 – 5831F → Y in PAIS. 1 Publication
VAR_009738
Natural varianti583 – 5831Missing in AIS. 1 Publication
VAR_009739
Natural varianti586 – 5861R → K in AIS.
VAR_009740
Natural varianti597 – 5971A → T in AIS; abolishes dimerization. 2 Publications
VAR_009743
Natural varianti598 – 5981S → G in PAIS; associated with P-617 in a PAIS patient; high dissociation rate; partially restores DNA-binding activity of P-617 mutant receptors. 1 Publication
VAR_009744
Natural varianti602 – 6021C → F in AIS. 1 Publication
VAR_009746
Natural varianti605 – 6051D → Y in PAIS. 1 Publication
VAR_009747
Natural varianti608 – 6081R → Q in PAIS and breast cancer. 4 Publications
VAR_004684
Natural varianti609 – 6091R → K in PAIS and breast cancer; defective nuclear localization. 3 Publications
VAR_004685
Natural varianti611 – 6111N → T in PAIS. 1 Publication
VAR_009748
Natural varianti612 – 6121C → Y in AIS.
VAR_009749
Natural varianti616 – 6161R → H in AIS and PAIS. 4 Publications
VAR_009751
Natural varianti616 – 6161R → P in AIS.
VAR_009752
Natural varianti616 – 6161Missing in AIS. 1 Publication
VAR_009750
Natural varianti617 – 6171L → P in AIS. 1 Publication
VAR_009753
Natural varianti617 – 6171L → R in PAIS. 1 Publication
VAR_009754
Natural varianti618 – 6181R → P in AIS and PAIS; associated with G-597 in a PAIS patient; loss of DNA-binding activity. 2 Publications
VAR_009755
Natural varianti665 – 6651I → N in AIS and PAIS.
VAR_004687
Natural varianti672 – 6721P → H in PAIS.
VAR_009762
Natural varianti678 – 6781L → P in AIS. 1 Publication
VAR_004688
Natural varianti682 – 6821E → K in AIS. 2 Publications
VAR_009764
Natural varianti683 – 6831P → T in PAIS. 1 Publication
VAR_013474
Natural varianti685 – 6851V → I in AIS.
VAR_009766
Natural varianti687 – 6871C → R in PAIS.
VAR_009767
Natural varianti688 – 6881A → V in PAIS.
VAR_009768
Natural varianti689 – 6891G → E in AIS.
VAR_009769
Natural varianti691 – 6911Missing in PAIS. 1 Publication
VAR_009770
Natural varianti693 – 6931Missing in AIS.
VAR_004689
Natural varianti696 – 6961D → H in AIS. 1 Publication
VAR_004690
Natural varianti696 – 6961D → N in AIS; almost complete loss of androgen binding and transcription activation. 2 Publications
VAR_004691
Natural varianti696 – 6961D → V in AIS. 1 Publication
VAR_004692
Natural varianti701 – 7011L → M in AIS.
VAR_009771
Natural varianti702 – 7021L → F in AIS.
VAR_009772
Natural varianti702 – 7021L → H in AIS and prostate cancer. 3 Publications
VAR_009773
Natural varianti703 – 7031S → A in AIS.
VAR_009774
Natural varianti704 – 7041S → C in AIS.
VAR_009775
Natural varianti704 – 7041S → G in PAIS and AIS. 1 Publication
VAR_004693
Natural varianti706 – 7061N → S in AIS. 2 Publications
VAR_009776
Natural varianti706 – 7061N → Y in AIS. 1 Publication
VAR_013475
Natural varianti708 – 7081L → R in AIS. 1 Publication
VAR_004694
Natural varianti709 – 7091G → A in PAIS. 2 Publications
VAR_009777
Natural varianti709 – 7091G → V in AIS.
VAR_009778
Natural varianti711 – 7111R → T in AIS.
VAR_009779
Natural varianti712 – 7121Q → E in PAIS. 1 Publication
VAR_013476
Natural varianti713 – 7131L → F in PAIS.
VAR_009780
Natural varianti723 – 7231L → F in AIS.
VAR_009785
Natural varianti724 – 7241P → S in AIS.
VAR_009786
Natural varianti725 – 7251G → D in AIS and prostate cancer.
VAR_009787
Natural varianti728 – 7281N → K in AIS. 1 Publication
VAR_009790
Natural varianti729 – 7291L → S in PAIS.
VAR_009791
Natural varianti733 – 7331D → N in AIS. 1 Publication
VAR_004696
Natural varianti733 – 7331D → Y in AIS.
VAR_004697
Natural varianti734 – 7341Q → H in PAIS.
VAR_009792
Natural varianti738 – 7381I → T in PAIS. 1 Publication
VAR_009793
Natural varianti742 – 7421W → R in AIS. 1 Publication
VAR_009794
Natural varianti743 – 7431M → I in PAIS. 1 Publication
VAR_004698
Natural varianti743 – 7431M → V in PAIS. 1 Publication
VAR_009795
Natural varianti744 – 7441G → E in AIS. 1 Publication
VAR_013477
Natural varianti744 – 7441G → V in PAIS and AIS. 4 Publications
VAR_004699
Natural varianti745 – 7451L → F in AIS and prostate cancer.
VAR_009796
Natural varianti746 – 7461M → T in PAIS. 1 Publication
VAR_009797
Natural varianti747 – 7471V → M in PAIS.
VAR_009798
Natural varianti749 – 7491A → D in PAIS.
VAR_009799
Natural varianti750 – 7501M → V in PAIS and AIS. 3 Publications
VAR_004700
Natural varianti751 – 7511G → D in AIS; loss of androgen binding. 1 Publication
VAR_004701
Natural varianti752 – 7521W → R in AIS.
VAR_009804
Natural varianti753 – 7531R → Q in AIS. 2 Publications
VAR_004702
Natural varianti755 – 7551F → L in PAIS and prostate cancer. 2 Publications
VAR_009805
Natural varianti755 – 7551F → V in AIS. 2 Publications
VAR_004703
Natural varianti757 – 7571N → S in PAIS.
VAR_009807
Natural varianti759 – 7591N → T in PAIS; 50% reduction in transactivation. 1 Publication
VAR_009809
Natural varianti760 – 7601S → F in AIS. 1 Publication
VAR_009810
Natural varianti763 – 7631L → F in AIS; loss of androgen binding. 1 Publication
VAR_004704
Natural varianti764 – 7641Y → C in PAIS and prostate cancer; partial loss of androgen binding. 3 Publications
VAR_004705
Natural varianti764 – 7641Y → H in AIS. 1 Publication
VAR_009812
Natural varianti765 – 7651F → L in AIS. 1 Publication
VAR_009813
Natural varianti766 – 7661A → T in AIS; loss of androgen binding. 4 Publications
VAR_004707
Natural varianti766 – 7661A → V in AIS.
VAR_009814
Natural varianti767 – 7671P → S in AIS.
VAR_009815
Natural varianti768 – 7681D → E in AIS. 1 Publication
VAR_009816
Natural varianti769 – 7691L → P in AIS.
VAR_009817
Natural varianti772 – 7721N → H in PAIS. 1 Publication
VAR_009818
Natural varianti773 – 7731E → A in PAIS. 1 Publication
VAR_009819
Natural varianti773 – 7731E → G in PAIS. 1 Publication
VAR_009820
Natural varianti775 – 7751R → C in AIS; frequent mutation; loss of androgen binding. 5 Publications
VAR_004709
Natural varianti775 – 7751R → H in AIS and PAIS; almost complete loss of androgen binding. 4 Publications
VAR_004708
Natural varianti780 – 7801R → W in AIS. 3 Publications
VAR_004710
Natural varianti781 – 7811M → I in PAIS and AIS. 3 Publications
VAR_004711
Natural varianti785 – 7851C → Y in AIS; loss of androgen binding and of transactivation. 1 Publication
VAR_004712
Natural varianti788 – 7881M → V in AIS. 1 Publication
VAR_004713
Natural varianti789 – 7891R → S in AIS.
VAR_009822
Natural varianti791 – 7911L → F in AIS. 1 Publication
VAR_009823
Natural varianti795 – 7951F → S in AIS. 1 Publication
VAR_004714
Natural varianti799 – 7991Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 6 Publications
VAR_004715
Natural varianti807 – 8071C → Y in PAIS.
VAR_009826
Natural varianti808 – 8081M → R in AIS; loss of transactivation. 1 Publication
VAR_004716
Natural varianti808 – 8081M → T in PAIS. 1 Publication
VAR_009827
Natural varianti808 – 8081M → V in AIS; 25% androgen binding. 1 Publication
VAR_004717
Natural varianti813 – 8131L → F in AIS. 1 Publication
VAR_009828
Natural varianti815 – 8151S → N in AIS and PAIS.
VAR_004718
Natural varianti821 – 8211G → A in AIS. 1 Publication
VAR_009829
Natural varianti822 – 8221L → V in PAIS.
VAR_009830
Natural varianti828 – 8281F → V in PAIS. 1 Publication
VAR_013478
Natural varianti832 – 8321R → L in AIS. 1 Publication
VAR_004719
Natural varianti832 – 8321R → Q in AIS; loss of androgen binding. 3 Publications
VAR_004720
Natural varianti835 – 8351Y → C in AIS; loss of androgen binding. 1 Publication
VAR_009832
Natural varianti841 – 8411R → C in AIS. 3 Publications
VAR_004721
Natural varianti841 – 8411R → G in PAIS. 1 Publication
VAR_004722
Natural varianti841 – 8411R → H in AIS. 7 Publications
VAR_004723
Natural varianti841 – 8411R → S in PAIS. 1 Publication
VAR_009229
Natural varianti842 – 8421I → S in PAIS.
VAR_009833
Natural varianti843 – 8431I → T in AIS. 2 Publications
VAR_004724
Natural varianti855 – 8551R → K in PAIS.
VAR_009835
Natural varianti856 – 8561R → C in AIS. 5 Publications
VAR_004725
Natural varianti856 – 8561R → H in AIS; strongly reduced transcription activation. 5 Publications
VAR_004726
Natural varianti857 – 8571F → L in AIS.
VAR_009836
Natural varianti864 – 8641L → R in AIS.
VAR_009837
Natural varianti865 – 8651D → G in AIS. 1 Publication
VAR_009838
Natural varianti865 – 8651D → N in AIS; loss of androgen binding. 1 Publication
VAR_004727
Natural varianti866 – 8661S → P in AIS.
VAR_009839
Natural varianti867 – 8671V → E in AIS.
VAR_004728
Natural varianti867 – 8671V → L in PAIS. 3 Publications
VAR_004729
Natural varianti867 – 8671V → M in AIS and prostate cancer. 4 Publications
VAR_004730
Natural varianti870 – 8701I → M in PAIS. 2 Publications
VAR_004731
Natural varianti871 – 8711A → G in PAIS. 1 Publication
VAR_009840
Natural varianti871 – 8711A → V in PAIS. 1 Publication
VAR_009841
Natural varianti872 – 8721R → G in AIS. 1 Publication
VAR_009842
Natural varianti875 – 8751H → R in AIS. 1 Publication
VAR_013479
Natural varianti880 – 8801D → Y in AIS. 1 Publication
VAR_013480
Natural varianti882 – 8821L → V in AIS. 1 Publication
VAR_009846
Natural varianti887 – 8871M → V in AIS.
VAR_009847
Natural varianti890 – 8901V → M in AIS and PAIS. 2 Publications
VAR_009848
Natural varianti893 – 8931P → L in AIS. 3 Publications
VAR_004733
Natural varianti896 – 8961M → T in AIS; low androgen binding and transactivation. 2 Publications
VAR_004734
Natural varianti899 – 8991I → T in AIS.
VAR_009852
Natural varianti904 – 9041V → M in PAIS.
VAR_009854
Natural varianti905 – 9051P → H in AIS.
VAR_009855
Natural varianti905 – 9051P → S in AIS.
VAR_009856
Natural varianti908 – 9081L → F in AIS; almost complete loss of transcription activation. 2 Publications
VAR_004735
Natural varianti910 – 9101G → R in PAIS. 1 Publication
VAR_009858
Natural varianti912 – 9121V → L in PAIS. 1 Publication
VAR_009860
Natural varianti914 – 9141P → S in PAIS.
VAR_004736
Natural varianti917 – 9171F → L in AIS. 1 Publication
VAR_009861
Natural varianti918 – 9181H → R in AIS.
VAR_009862
Spinal and bulbar muscular atrophy X-linked 1 (SMAX1)1 Publication
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.
Disease descriptionAn 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.
See also OMIM:313200

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.

Androgen insensitivity, partial (PAIS)41 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:312300
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21E → K in PAIS. 1 Publication
VAR_004679
Natural varianti548 – 5481L → F in PAIS.
VAR_009721
Natural varianti569 – 5691G → W in PAIS. 1 Publication
VAR_009726
Natural varianti583 – 5831F → S in PAIS. 1 Publication
VAR_009737
Natural varianti583 – 5831F → Y in PAIS. 1 Publication
VAR_009738
Natural varianti598 – 5981S → G in PAIS; associated with P-617 in a PAIS patient; high dissociation rate; partially restores DNA-binding activity of P-617 mutant receptors. 1 Publication
VAR_009744
Natural varianti605 – 6051D → Y in PAIS. 1 Publication
VAR_009747
Natural varianti608 – 6081R → Q in PAIS and breast cancer. 4 Publications
VAR_004684
Natural varianti609 – 6091R → K in PAIS and breast cancer; defective nuclear localization. 3 Publications
VAR_004685
Natural varianti611 – 6111N → T in PAIS. 1 Publication
VAR_009748
Natural varianti616 – 6161R → H in AIS and PAIS. 4 Publications
VAR_009751
Natural varianti617 – 6171L → R in PAIS. 1 Publication
VAR_009754
Natural varianti618 – 6181R → P in AIS and PAIS; associated with G-597 in a PAIS patient; loss of DNA-binding activity. 2 Publications
VAR_009755
Natural varianti665 – 6651I → N in AIS and PAIS.
VAR_004687
Natural varianti672 – 6721P → H in PAIS.
VAR_009762
Natural varianti683 – 6831P → T in PAIS. 1 Publication
VAR_013474
Natural varianti687 – 6871C → R in PAIS.
VAR_009767
Natural varianti688 – 6881A → V in PAIS.
VAR_009768
Natural varianti691 – 6911Missing in PAIS. 1 Publication
VAR_009770
Natural varianti704 – 7041S → G in PAIS and AIS. 1 Publication
VAR_004693
Natural varianti709 – 7091G → A in PAIS. 2 Publications
VAR_009777
Natural varianti712 – 7121Q → E in PAIS. 1 Publication
VAR_013476
Natural varianti713 – 7131L → F in PAIS.
VAR_009780
Natural varianti729 – 7291L → S in PAIS.
VAR_009791
Natural varianti734 – 7341Q → H in PAIS.
VAR_009792
Natural varianti738 – 7381I → T in PAIS. 1 Publication
VAR_009793
Natural varianti743 – 7431M → I in PAIS. 1 Publication
VAR_004698
Natural varianti743 – 7431M → V in PAIS. 1 Publication
VAR_009795
Natural varianti744 – 7441G → V in PAIS and AIS. 4 Publications
VAR_004699
Natural varianti746 – 7461M → T in PAIS. 1 Publication
VAR_009797
Natural varianti747 – 7471V → M in PAIS.
VAR_009798
Natural varianti749 – 7491A → D in PAIS.
VAR_009799
Natural varianti750 – 7501M → V in PAIS and AIS. 3 Publications
VAR_004700
Natural varianti755 – 7551F → L in PAIS and prostate cancer. 2 Publications
VAR_009805
Natural varianti757 – 7571N → S in PAIS.
VAR_009807
Natural varianti759 – 7591N → T in PAIS; 50% reduction in transactivation. 1 Publication
VAR_009809
Natural varianti764 – 7641Y → C in PAIS and prostate cancer; partial loss of androgen binding. 3 Publications
VAR_004705
Natural varianti772 – 7721N → H in PAIS. 1 Publication
VAR_009818
Natural varianti773 – 7731E → A in PAIS. 1 Publication
VAR_009819
Natural varianti773 – 7731E → G in PAIS. 1 Publication
VAR_009820
Natural varianti775 – 7751R → H in AIS and PAIS; almost complete loss of androgen binding. 4 Publications
VAR_004708
Natural varianti781 – 7811M → I in PAIS and AIS. 3 Publications
VAR_004711
Natural varianti799 – 7991Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 6 Publications
VAR_004715
Natural varianti807 – 8071C → Y in PAIS.
VAR_009826
Natural varianti808 – 8081M → T in PAIS. 1 Publication
VAR_009827
Natural varianti815 – 8151S → N in AIS and PAIS.
VAR_004718
Natural varianti822 – 8221L → V in PAIS.
VAR_009830
Natural varianti828 – 8281F → V in PAIS. 1 Publication
VAR_013478
Natural varianti841 – 8411R → G in PAIS. 1 Publication
VAR_004722
Natural varianti841 – 8411R → S in PAIS. 1 Publication
VAR_009229
Natural varianti842 – 8421I → S in PAIS.
VAR_009833
Natural varianti855 – 8551R → K in PAIS.
VAR_009835
Natural varianti867 – 8671V → L in PAIS. 3 Publications
VAR_004729
Natural varianti870 – 8701I → M in PAIS. 2 Publications
VAR_004731
Natural varianti871 – 8711A → G in PAIS. 1 Publication
VAR_009840
Natural varianti871 – 8711A → V in PAIS. 1 Publication
VAR_009841
Natural varianti890 – 8901V → M in AIS and PAIS. 2 Publications
VAR_009848
Natural varianti904 – 9041V → M in PAIS.
VAR_009854
Natural varianti910 – 9101G → R in PAIS. 1 Publication
VAR_009858
Natural varianti912 – 9121V → L in PAIS. 1 Publication
VAR_009860
Natural varianti914 – 9141P → S in PAIS.
VAR_004736

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi83 – 831S → A: Reduced cell growth. 1 Publication
Mutagenesisi225 – 2251Y → F: Decrease of CSK-induced phosphorylation. 1 Publication
Mutagenesisi269 – 2691Y → F: Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-365. 2 Publications