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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)DescriptionActionsGraphical viewLength
Binding sitei706Androgen1
Binding sitei753Androgen1
Binding sitei878Androgen1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi560 – 632Nuclear receptorPROSITE-ProRule annotationAdd BLAST73
Zinc fingeri560 – 580NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri596 – 620NR C4-typePROSITE-ProRule annotationAdd BLAST25

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
  • steroid binding Source: UniProtKB-KW
  • 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
  • animal organ formation Source: Ensembl
  • 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
  • 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
  • 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
  • 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

BioCyciZFISH:ENSG00000169083-MONOMER.
ReactomeiR-HSA-383280. Nuclear Receptor transcription pathway.
R-HSA-5625886. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3.
R-HSA-5689880. Ub-specific processing proteases.
SignaLinkiP10275.
SIGNORiP10275.

Chemistry databases

SwissLipidsiSLP:000001553.

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)70 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0046792E → K in PAIS. 1 PublicationCorresponds to variant rs104894742dbSNPEnsembl.1
Natural variantiVAR_009224196Q → R in AIS. 1 Publication1
Natural variantiVAR_009225257L → P in AIS. 1 Publication1
Natural variantiVAR_009226392P → R in AIS. 1 PublicationCorresponds to variant rs773996740dbSNPEnsembl.1
Natural variantiVAR_009227392P → S in AIS. Corresponds to variant rs201934623dbSNPEnsembl.1
Natural variantiVAR_009228445Q → R in AIS; unknown pathological significance. 1 Publication1
Natural variantiVAR_009719492G → S in AIS. 1
Natural variantiVAR_009721548L → F in PAIS. Corresponds to variant rs139524801dbSNPEnsembl.1
Natural variantiVAR_009722549P → S in AIS. 1 PublicationCorresponds to variant rs137852588dbSNPEnsembl.1
Natural variantiVAR_009723560C → Y in AIS. 1 Publication1
Natural variantiVAR_009726569G → W in PAIS. 1 Publication1
Natural variantiVAR_009727572Y → C in AIS. 1 Publication1
Natural variantiVAR_009728574A → D in AIS. 1
Natural variantiVAR_009731577C → F in AIS. 1 Publication1
Natural variantiVAR_009732577C → R in AIS. 1 Publication1
Natural variantiVAR_009733580C → F in AIS; reduced transcription and DNA binding. 1 PublicationCorresponds to variant rs137852586dbSNPEnsembl.1
Natural variantiVAR_009734580C → Y in AIS. 1
Natural variantiVAR_009736582V → F in AIS. 2 Publications1
Natural variantiVAR_009737583F → S in PAIS. 1 Publication1
Natural variantiVAR_009738583F → Y in PAIS. 1 PublicationCorresponds to variant rs137852587dbSNPEnsembl.1
Natural variantiVAR_009739583Missing in AIS. 1 Publication1
Natural variantiVAR_009740586R → K in AIS. 1
Natural variantiVAR_009743597A → T in AIS; abolishes dimerization. 2 PublicationsCorresponds to variant rs137852569dbSNPEnsembl.1
Natural variantiVAR_009744598S → G in PAIS; associated with P-618 in a PAIS patient; normal androgen binding; does not activate transcription; impairs DNA binding. 1 PublicationCorresponds to variant rs142280455dbSNPEnsembl.1
Natural variantiVAR_009746602C → F in AIS. 1 Publication1
Natural variantiVAR_009747605D → Y in PAIS. 1 Publication1
Natural variantiVAR_004684608R → Q in PAIS and breast cancer. 4 PublicationsCorresponds to variant rs137852573dbSNPEnsembl.1
Natural variantiVAR_004685609R → K in PAIS and breast cancer; defective nuclear localization. 3 PublicationsCorresponds to variant rs137852576dbSNPEnsembl.1
Natural variantiVAR_009748611N → T in PAIS. 1 Publication1
Natural variantiVAR_009749612C → Y in AIS. 1
Natural variantiVAR_009751616R → H in AIS and PAIS. 4 PublicationsCorresponds to variant rs754201976dbSNPEnsembl.1
Natural variantiVAR_009752616R → P in AIS. 1
Natural variantiVAR_009750616Missing in AIS. 1 Publication1
Natural variantiVAR_009753617L → P in AIS. 1 Publication1
Natural variantiVAR_009754617L → R in PAIS. 1 Publication1
Natural variantiVAR_009755618R → P in AIS and PAIS; associated with G-598 in a PAIS patient; loss of DNA-binding activity. 2 Publications1
Natural variantiVAR_004687665I → N in AIS and PAIS. 1
Natural variantiVAR_009762672P → H in PAIS. 1
Natural variantiVAR_004688678L → P in AIS. 1 PublicationCorresponds to variant rs137852579dbSNPEnsembl.1
Natural variantiVAR_009764682E → K in AIS. 2 Publications1
Natural variantiVAR_013474683P → T in PAIS. 1 Publication1
Natural variantiVAR_009766685V → I in AIS. 1
Natural variantiVAR_009767687C → R in PAIS. 1
Natural variantiVAR_009768688A → V in PAIS. 1
Natural variantiVAR_009769689G → E in AIS. 1
Natural variantiVAR_009770691Missing in PAIS. 1 Publication1
Natural variantiVAR_004689693Missing in AIS. 1
Natural variantiVAR_004690696D → H in AIS. 1 Publication1
Natural variantiVAR_004691696D → N in AIS; almost complete loss of androgen binding and transcription activation. 2 Publications1
Natural variantiVAR_004692696D → V in AIS. 1 Publication1
Natural variantiVAR_009771701L → M in AIS. 1
Natural variantiVAR_009772702L → F in AIS. 1
Natural variantiVAR_009773702L → H in AIS and prostate cancer. 3 Publications1
Natural variantiVAR_009774703S → A in AIS. 1
Natural variantiVAR_009775704S → C in AIS. 1
Natural variantiVAR_004693704S → G in PAIS and AIS. 1 Publication1
Natural variantiVAR_009776706N → S in AIS. 2 Publications1
Natural variantiVAR_013475706N → Y in AIS. 1 Publication1
Natural variantiVAR_004694708L → R in AIS. 1 PublicationCorresponds to variant rs137852585dbSNPEnsembl.1
Natural variantiVAR_009777709G → A in PAIS. 2 Publications1
Natural variantiVAR_009778709G → V in AIS. 1
Natural variantiVAR_009779711R → T in AIS. 1
Natural variantiVAR_013476712Q → E in PAIS. 1 Publication1
Natural variantiVAR_009780713L → F in PAIS. Corresponds to variant rs137852595dbSNPEnsembl.1
Natural variantiVAR_009785723L → F in AIS. 1
Natural variantiVAR_009786724P → S in AIS. 1
Natural variantiVAR_009787725G → D in AIS and prostate cancer. 1
Natural variantiVAR_009790728N → K in AIS. 1 PublicationCorresponds to variant rs768869912dbSNPEnsembl.1
Natural variantiVAR_009791729L → S in PAIS. 1
Natural variantiVAR_004696733D → N in AIS. 1 Publication1
Natural variantiVAR_004697733D → Y in AIS. 1
Natural variantiVAR_009792734Q → H in PAIS. 1
Natural variantiVAR_009793738I → T in PAIS. 1 Publication1
Natural variantiVAR_009794742W → R in AIS. 1 Publication1
Natural variantiVAR_004698743M → I in PAIS. 1 Publication1
Natural variantiVAR_009795743M → V in PAIS. 1 Publication1
Natural variantiVAR_013477744G → E in AIS. 1 PublicationCorresponds to variant rs137852600dbSNPEnsembl.1
Natural variantiVAR_004699744G → V in PAIS and AIS. 4 PublicationsCorresponds to variant rs137852600dbSNPEnsembl.1
Natural variantiVAR_009796745L → F in AIS and prostate cancer. 1
Natural variantiVAR_009797746M → T in PAIS. 1 Publication1
Natural variantiVAR_009798747V → M in PAIS. 1
Natural variantiVAR_009799749A → D in PAIS. 1
Natural variantiVAR_004700750M → V in PAIS and AIS. 3 Publications1
Natural variantiVAR_004701751G → D in AIS; loss of androgen binding. 1 Publication1
Natural variantiVAR_009804752W → R in AIS. 1
Natural variantiVAR_004702753R → Q in AIS. 2 Publications1
Natural variantiVAR_009805755F → L in PAIS and prostate cancer. 2 Publications1
Natural variantiVAR_004703755F → V in AIS. 2 Publications1
Natural variantiVAR_009807757N → S in PAIS. Corresponds to variant rs141425171dbSNPEnsembl.1
Natural variantiVAR_009809759N → T in PAIS; 50% reduction in transactivation. 1 Publication1
Natural variantiVAR_009810760S → F in AIS. 1 Publication1
Natural variantiVAR_004704763L → F in AIS; loss of androgen binding. 1 Publication1
Natural variantiVAR_004705764Y → C in PAIS and prostate cancer; partial loss of androgen binding. 3 PublicationsCorresponds to variant rs137852567dbSNPEnsembl.1
Natural variantiVAR_009812764Y → H in AIS. 1 Publication1
Natural variantiVAR_009813765F → L in AIS. 1 Publication1
Natural variantiVAR_004707766A → T in AIS; loss of androgen binding. 4 Publications1
Natural variantiVAR_009814766A → V in AIS. 1
Natural variantiVAR_009815767P → S in AIS. 1
Natural variantiVAR_009816768D → E in AIS. 1 Publication1
Natural variantiVAR_009817769L → P in AIS. 1
Natural variantiVAR_009818772N → H in PAIS. 1 Publication1
Natural variantiVAR_009819773E → A in PAIS. 1 Publication1
Natural variantiVAR_009820773E → G in PAIS. 1 Publication1
Natural variantiVAR_004709775R → C in AIS; frequent mutation; loss of androgen binding. 5 PublicationsCorresponds to variant rs137852562dbSNPEnsembl.1
Natural variantiVAR_004708775R → H in AIS and PAIS; almost complete loss of androgen binding. 4 PublicationsCorresponds to variant rs137852572dbSNPEnsembl.1
Natural variantiVAR_004710780R → W in AIS. 3 Publications1
Natural variantiVAR_004711781M → I in PAIS and AIS. 3 PublicationsCorresponds to variant rs137852589dbSNPEnsembl.1
Natural variantiVAR_004712785C → Y in AIS; loss of androgen binding and of transactivation. 1 Publication1
Natural variantiVAR_004713788M → V in AIS. 1 PublicationCorresponds to variant rs137852570dbSNPEnsembl.1
Natural variantiVAR_009822789R → S in AIS. 1
Natural variantiVAR_009823791L → F in AIS. 1 Publication1
Natural variantiVAR_004714795F → S in AIS. 1 Publication1
Natural variantiVAR_004715799Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 6 PublicationsCorresponds to variant rs137852591dbSNPEnsembl.1
Natural variantiVAR_009826807C → Y in PAIS. 1
Natural variantiVAR_004716808M → R in AIS; loss of transactivation. 1 Publication1
Natural variantiVAR_009827808M → T in PAIS. 1 PublicationCorresponds to variant rs137852592dbSNPEnsembl.1
Natural variantiVAR_004717808M → V in AIS; 25% androgen binding. 1 Publication1
Natural variantiVAR_009828813L → F in AIS. 1 Publication1
Natural variantiVAR_004718815S → N in AIS and PAIS. 1
Natural variantiVAR_009829821G → A in AIS. 1 Publication1
Natural variantiVAR_009830822L → V in PAIS. 1
Natural variantiVAR_013478828F → V in PAIS. 1 Publication1
Natural variantiVAR_004719832R → L in AIS. 1 Publication1
Natural variantiVAR_004720832R → Q in AIS; loss of androgen binding. 3 Publications1
Natural variantiVAR_009832835Y → C in AIS; loss of androgen binding. 1 Publication1
Natural variantiVAR_004721841R → C in AIS. 3 PublicationsCorresponds to variant rs137852577dbSNPEnsembl.1
Natural variantiVAR_004722841R → G in PAIS. 1 Publication1
Natural variantiVAR_004723841R → H in AIS. 7 PublicationsCorresponds to variant rs9332969dbSNPEnsembl.1
Natural variantiVAR_009229841R → S in PAIS. 1 Publication1
Natural variantiVAR_009833842I → S in PAIS. 1
Natural variantiVAR_004724843I → T in AIS. 2 PublicationsCorresponds to variant rs9332970dbSNPEnsembl.1
Natural variantiVAR_009835855R → K in PAIS. 1
Natural variantiVAR_004725856R → C in AIS. 5 Publications1
Natural variantiVAR_004726856R → H in AIS; strongly reduced transcription activation. 5 PublicationsCorresponds to variant rs9332971dbSNPEnsembl.1
Natural variantiVAR_009836857F → L in AIS. Corresponds to variant rs137852598dbSNPEnsembl.1
Natural variantiVAR_009837864L → R in AIS. 1
Natural variantiVAR_009838865D → G in AIS. 1 Publication1
Natural variantiVAR_004727865D → N in AIS; loss of androgen binding. 1 Publication1
Natural variantiVAR_009839866S → P in AIS. Corresponds to variant rs137852597dbSNPEnsembl.1
Natural variantiVAR_004728867V → E in AIS. 1
Natural variantiVAR_004729867V → L in PAIS. 3 PublicationsCorresponds to variant rs137852564dbSNPEnsembl.1
Natural variantiVAR_004730867V → M in AIS and prostate cancer. 4 PublicationsCorresponds to variant rs137852564dbSNPEnsembl.1
Natural variantiVAR_004731870I → M in PAIS. 2 PublicationsCorresponds to variant rs137852574dbSNPEnsembl.1
Natural variantiVAR_009840871A → G in PAIS. 1 Publication1
Natural variantiVAR_009841871A → V in PAIS. 1 PublicationCorresponds to variant rs143040492dbSNPEnsembl.1
Natural variantiVAR_009842872R → G in AIS. 1 Publication1
Natural variantiVAR_013479875H → R in AIS. 1 Publication1
Natural variantiVAR_013480880D → Y in AIS. 1 Publication1
Natural variantiVAR_009846882L → V in AIS. 1 Publication1
Natural variantiVAR_009847887M → V in AIS. Corresponds to variant rs755226547dbSNPEnsembl.1
Natural variantiVAR_009848890V → M in AIS and PAIS. 2 Publications1
Natural variantiVAR_004733893P → L in AIS. 3 Publications1
Natural variantiVAR_004734896M → T in AIS; low androgen binding and transactivation. 2 Publications1
Natural variantiVAR_009852899I → T in AIS. 1
Natural variantiVAR_009854904V → M in PAIS. 1
Natural variantiVAR_009855905P → H in AIS. 1
Natural variantiVAR_009856905P → S in AIS. 1
Natural variantiVAR_004735908L → F in AIS; almost complete loss of transcription activation. 2 Publications1
Natural variantiVAR_009858910G → R in PAIS. 1 Publication1
Natural variantiVAR_009860912V → L in PAIS. 1 Publication1
Natural variantiVAR_004736914P → S in PAIS. 1
Natural variantiVAR_009861917F → L in AIS. 1 Publication1
Natural variantiVAR_009862918H → R in AIS. 1
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)42 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0046792E → K in PAIS. 1 PublicationCorresponds to variant rs104894742dbSNPEnsembl.1
Natural variantiVAR_009721548L → F in PAIS. Corresponds to variant rs139524801dbSNPEnsembl.1
Natural variantiVAR_009726569G → W in PAIS. 1 Publication1
Natural variantiVAR_009737583F → S in PAIS. 1 Publication1
Natural variantiVAR_009738583F → Y in PAIS. 1 PublicationCorresponds to variant rs137852587dbSNPEnsembl.1
Natural variantiVAR_009744598S → G in PAIS; associated with P-618 in a PAIS patient; normal androgen binding; does not activate transcription; impairs DNA binding. 1 PublicationCorresponds to variant rs142280455dbSNPEnsembl.1
Natural variantiVAR_009747605D → Y in PAIS. 1 Publication1
Natural variantiVAR_004684608R → Q in PAIS and breast cancer. 4 PublicationsCorresponds to variant rs137852573dbSNPEnsembl.1
Natural variantiVAR_004685609R → K in PAIS and breast cancer; defective nuclear localization. 3 PublicationsCorresponds to variant rs137852576dbSNPEnsembl.1
Natural variantiVAR_009748611N → T in PAIS. 1 Publication1
Natural variantiVAR_009751616R → H in AIS and PAIS. 4 PublicationsCorresponds to variant rs754201976dbSNPEnsembl.1
Natural variantiVAR_009754617L → R in PAIS. 1 Publication1
Natural variantiVAR_009755618R → P in AIS and PAIS; associated with G-598 in a PAIS patient; loss of DNA-binding activity. 2 Publications1
Natural variantiVAR_004687665I → N in AIS and PAIS. 1
Natural variantiVAR_009762672P → H in PAIS. 1
Natural variantiVAR_013474683P → T in PAIS. 1 Publication1
Natural variantiVAR_009767687C → R in PAIS. 1
Natural variantiVAR_009768688A → V in PAIS. 1
Natural variantiVAR_009770691Missing in PAIS. 1 Publication1
Natural variantiVAR_004693704S → G in PAIS and AIS. 1 Publication1
Natural variantiVAR_009777709G → A in PAIS. 2 Publications1
Natural variantiVAR_013476712Q → E in PAIS. 1 Publication1
Natural variantiVAR_009780713L → F in PAIS. Corresponds to variant rs137852595dbSNPEnsembl.1
Natural variantiVAR_009791729L → S in PAIS. 1
Natural variantiVAR_009792734Q → H in PAIS. 1
Natural variantiVAR_009793738I → T in PAIS. 1 Publication1
Natural variantiVAR_004698743M → I in PAIS. 1 Publication1
Natural variantiVAR_009795743M → V in PAIS. 1 Publication1
Natural variantiVAR_004699744G → V in PAIS and AIS. 4 PublicationsCorresponds to variant rs137852600dbSNPEnsembl.1
Natural variantiVAR_009797746M → T in PAIS. 1 Publication1
Natural variantiVAR_009798747V → M in PAIS. 1
Natural variantiVAR_009799749A → D in PAIS. 1
Natural variantiVAR_004700750M → V in PAIS and AIS. 3 Publications1
Natural variantiVAR_009805755F → L in PAIS and prostate cancer. 2 Publications1
Natural variantiVAR_009807757N → S in PAIS. Corresponds to variant rs141425171dbSNPEnsembl.1
Natural variantiVAR_009809759N → T in PAIS; 50% reduction in transactivation. 1 Publication1
Natural variantiVAR_004705764Y → C in PAIS and prostate cancer; partial loss of androgen binding. 3 PublicationsCorresponds to variant rs137852567dbSNPEnsembl.1
Natural variantiVAR_009818772N → H in PAIS. 1 Publication1
Natural variantiVAR_009819773E → A in PAIS. 1 Publication1
Natural variantiVAR_009820773E → G in PAIS. 1 Publication1
Natural variantiVAR_004708775R → H in AIS and PAIS; almost complete loss of androgen binding. 4 PublicationsCorresponds to variant rs137852572dbSNPEnsembl.1
Natural variantiVAR_004711781M → I in PAIS and AIS. 3 PublicationsCorresponds to variant rs137852589dbSNPEnsembl.1
Natural variantiVAR_004715799Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 6 PublicationsCorresponds to variant rs137852591dbSNPEnsembl.1
Natural variantiVAR_009826807C → Y in PAIS. 1
Natural variantiVAR_009827808M → T in PAIS. 1 PublicationCorresponds to variant rs137852592dbSNPEnsembl.1
Natural variantiVAR_004718815S → N in AIS and PAIS. 1
Natural variantiVAR_009830822L → V in PAIS. 1
Natural variantiVAR_013478828F → V in PAIS. 1 Publication1
Natural variantiVAR_004722841R → G in PAIS. 1 Publication1
Natural variantiVAR_009229841R → S in PAIS. 1 Publication1
Natural variantiVAR_009833842I → S in PAIS. 1
Natural variantiVAR_009835855R → K in PAIS. 1
Natural variantiVAR_004729867V → L in PAIS. 3 PublicationsCorresponds to variant rs137852564dbSNPEnsembl.1
Natural variantiVAR_004731870I → M in PAIS. 2 PublicationsCorresponds to variant rs137852574dbSNPEnsembl.1
Natural variantiVAR_009840871A → G in PAIS. 1 Publication1
Natural variantiVAR_009841871A → V in PAIS. 1 PublicationCorresponds to variant rs143040492dbSNPEnsembl.1
Natural variantiVAR_009848890V → M in AIS and PAIS. 2 Publications1
Natural variantiVAR_009854904V → M in PAIS. 1
Natural variantiVAR_009858910G → R in PAIS. 1 Publication1
Natural variantiVAR_009860912V → L in PAIS. 1 Publication1
Natural variantiVAR_004736914P → S in PAIS. 1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi83S → A: Reduced cell growth. 1 Publication1
Mutagenesisi225Y → F: Decrease of CSK-induced phosphorylation. 1 Publication1
Mutagenesisi269Y → F: Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-365. 2 Publications1
Mutagenesisi309Y → F: Decrease of CSK-induced phosphorylation. 1 Publication1
Mutagenesisi348Y → F: Decrease of CSK-induced phosphorylation. 1 Publication1
Mutagenesisi359Y → F: Decrease of CSK-induced phosphorylation. 1 Publication