Gene: AR

Alternate names for this Gene: AIS|AR8|DHTR|HUMARA|HYSP1|KD|NR3C4|SBMA|SMAX1|TFM

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq12

Description of this Gene: androgen receptor

Type of Gene: protein-coding

rs1204038 in AR gene and Alopecia, Male Pattern PMID 22693459 2012 Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.

rs1057521122 in AR gene and Androgen-Insensitivity Syndrome PMID 1464650 1992 Immunoreactive androgen receptor expression in subjects with androgen resistance.

PMID 10458483 1999 Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.

PMID 10221692 1999 Androgen receptor gene mutations in 46,XY females with germ cell tumours.

PMID 9698822 1998 Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.

PMID 7671849 1995 Androgen receptor defects: historical, clinical, and molecular perspectives.

PMID 7537149 1995 Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.

PMID 8325950 1993 Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.

PMID 14756668 2004 Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.

PMID 7581399 1995 Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.

PMID 8809734 1996 Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor.

PMID 8281140 1993 A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro.

PMID 8040309 1994 Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.

PMID 7970939 1994 A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.

PMID 8723113 1996 The clinical and molecular spectrum of androgen insensitivity syndromes.

PMID 11587068 2001 Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.

PMID 9302173 1997 Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.

PMID 9544375 1998 Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity.

PMID 9610419 1998 One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome.

PMID 1316540 1992 Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.

PMID 9039340 1996 Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.

PMID 25613104 2015 Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.

PMID 2332504 1990 A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance.

PMID 26778393 2015 Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).

PMID 1598912 1992 Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.

PMID 28261839 2017 Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.

PMID 17054461 2006 Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations.

PMID 11788616 2002 Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene.

PMID 11788673 2002 Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome.

PMID 9768671 1998 We studied two mutants associated with partial AIS: G743V and R840C.

PMID 8824883 1996 Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

PMID 15925895 2005 Novel and recurrent mutations in patients with androgen insensitivity syndromes.

PMID 1430233 1992 Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.

PMID 20011049 2009 Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine.

PMID 16083860 2005 Dissecting phenotypic variation among AIS patients.

PMID 10834333 2000 Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome.

PMID 10458483 1999 All the mutations occurred in the steroid-binding domain, comprising exons D through G. The three patients with the premature termination codon(s) and the one patient with Arg831Gln were clinically diagnosed as having complete AIS, while the patient with Leu812Phe had a partial form of AIS.

PMID 2082179 1990 Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.

PMID 20150575 2010 Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

PMID 7981689 1994 Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor.

PMID 20493947 2010 C601S mutation in the androgen receptor results in partial loss of androgen function.

PMID 10425033 1999 Update of the androgen receptor gene mutations database.

PMID 15541764 2005 Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction.

PMID 11376111 2001 Disrupted amino- and carboxyl-terminal interactions of the androgen receptor are linked to androgen insensitivity.

PMID 16365032 2006 Probing the functional link between androgen receptor coactivator and ligand-binding sites in prostate cancer and androgen insensitivity.

PMID 10092153 1999 Screening for mutations in candidate genes for hypospadias.

PMID 1307250 1992 Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

PMID 10690872 2000 Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.

PMID 9328206 1997 Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome.

PMID 9856504 1998 Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.

PMID 15531547 2004 Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome.

PMID 27899157 2016 Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

PMID 25248670 2014 Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

PMID 26980296 2016 Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.

PMID 1458719 1992 Androgen resistance due to mutation of the androgen receptor.

PMID 10458483 1999 All the mutations occurred in the steroid-binding domain, comprising exons D through G. The three patients with the premature termination codon(s) and the one patient with Arg831Gln were clinically diagnosed as having complete AIS, while the patient with Leu812Phe had a partial form of AIS.

PMID 19463997 2010 Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.

PMID 12843171 2003 Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.

PMID 24737579 2014 AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.

PMID 14974091 2004 Two other subjects have mutations previously described as causing AIS, namely p.Arg779Trp and p.Val889Met substitutions in the ligand binding domain of the receptor.

PMID 8126121 1994 Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

PMID 28624954 2017 AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).

PMID 28186600 2017 [Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR].

PMID 16450583 2006 "Genetic analysis of a family with 46,XY ""female"" associated with infertility."

PMID 27267075 2016 Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

PMID 25241384 2014 Mutation analysis of androgen receptor gene: multiple uses for a single test.

rs137852565 in AR gene and Bulbo-Spinal Atrophy, X-Linked PMID 25613104 2015 Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.

PMID 2332504 1990 A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance.

PMID 26778393 2015 Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).

PMID 28261839 2017 Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.

PMID 1598912 1992 Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.

PMID 9039340 1996 Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.

PMID 8723113 1996 The clinical and molecular spectrum of androgen insensitivity syndromes.

PMID 17054461 2006 Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations.

PMID 11788616 2002 Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene.

PMID 16083860 2005 Dissecting phenotypic variation among AIS patients.

PMID 15925895 2005 Novel and recurrent mutations in patients with androgen insensitivity syndromes.

PMID 1430233 1992 Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.

PMID 20011049 2009 Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine.

PMID 8040309 1994 Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.

PMID 8824883 1996 Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

PMID 9768671 1998 Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.

PMID 11788673 2002 Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome.

PMID 20150575 2010 Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

PMID 10458483 1999 Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.

PMID 10834333 2000 Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome.

PMID 2082179 1990 Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.

PMID 7981689 1994 Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor.

PMID 20493947 2010 C601S mutation in the androgen receptor results in partial loss of androgen function.

PMID 10425033 1999 Update of the androgen receptor gene mutations database.

PMID 7671849 1995 Androgen receptor defects: historical, clinical, and molecular perspectives.

PMID 10092153 1999 Screening for mutations in candidate genes for hypospadias.

PMID 15541764 2005 Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction.

PMID 16365032 2006 Probing the functional link between androgen receptor coactivator and ligand-binding sites in prostate cancer and androgen insensitivity.

PMID 11376111 2001 Disrupted amino- and carboxyl-terminal interactions of the androgen receptor are linked to androgen insensitivity.

PMID 1307250 1992 Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

PMID 27899157 2016 Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

PMID 25248670 2014 Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

PMID 9328206 1997 Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome.

PMID 15531547 2004 Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome.

PMID 10690872 2000 Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.

PMID 9856504 1998 Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.

PMID 26980296 2016 Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.

PMID 1458719 1992 Androgen resistance due to mutation of the androgen receptor.

PMID 19463997 2010 Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.

PMID 11266016 2001 Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals.

PMID 12843171 2003 Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.

PMID 24737579 2014 AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.

PMID 14974091 2004 Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome.

PMID 8126121 1994 Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

PMID 27267075 2016 Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

PMID 28186600 2017 [Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR].

PMID 25241384 2014 Mutation analysis of androgen receptor gene: multiple uses for a single test.

PMID 28624954 2017 AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).

PMID 16450583 2006 "Genetic analysis of a family with 46,XY ""female"" associated with infertility."

rs5031002 in AR gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs5031002 in AR gene and Low density lipoprotein cholesterol measurement PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

rs104894742 in AR gene and Reifenstein Syndrome PMID 8097257 1993 Mutations of the androgen receptor gene identified in perineal hypospadias.

PMID 8325932 1993 A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.

PMID 11587068 2001 Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.

PMID 8126121 1994 Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

PMID 8033918 1994 Molecular characterization of the androgen receptor gene in boys with hypospadias.

PMID 1307250 1992 Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

PMID 10543676 1999 Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.

PMID 1316540 1992 Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.

PMID 7929841 1994 Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.

PMID 8823308 1996 A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.

PMID 14756668 2004 Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.

PMID 9302173 1997 Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.

PMID 7970939 1994 A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.

PMID 1424203 1992 Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.

PMID 7649358 1995 A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.

PMID 8325950 1993 Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.

PMID 9768671 1998 Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.

PMID 9039340 1996 Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.

PMID 8824883 1996 Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

PMID 9543136 1998 Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor.

PMID 8824883 1996 The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and Ile869Met, were identified in PAIS patients with phenotypes representing the full spectrum seen in this condition.

PMID 8824883 1996 The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and Ile869Met, were identified in PAIS patients with phenotypes representing the full spectrum seen in this condition.

PMID 8824883 1996 The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and Ile869Met, were identified in PAIS patients with phenotypes representing the full spectrum seen in this condition.

PMID 8325932 1993 A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.

rs5031002 in AR gene and Serum LDL cholesterol measurement PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.