Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

Aliases

AIS, AR8, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM

Entrez Gene ID

367

Gene Name

Androgen receptor

Chromosomal Location

Xq12

HGNC ID

644

RefSeq DNA

NG_009014.2

RefSeq mRNA

NM_000044.6, NM_001011645.3, NM_001348061.1, NM_001348063.1, NM_001348064.1

e!Ensembl

Gene	ENSG00000169083
Transcript	ENST00000374690, ENST00000513847, ENST00000504326, ENST00000514029, ENST00000396044, ENST00000396043, ENST00000613054, ENST00000612010, ENST00000612452
Protein	ENSP00000363822, , ENSP00000421155, ENSP00000425199, ENSP00000379359, ENSP00000379358, ENSP00000479013, ENSP00000482407, ENSP00000484033

Gene Ontology (GO)

Show/Hide all(52 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IMP	12902338
GO:0007165	Biological process	Signal transduction	TAS	10835690
GO:0007267	Biological process	Cell-cell signaling	TAS	10835690
GO:0008284	Biological process	Positive regulation of cell proliferation	IDA	17277772
GO:0008285	Biological process	Negative regulation of cell proliferation	IMP	14521927
GO:0010628	Biological process	Positive regulation of gene expression	IDA	24681825
GO:0010628	Biological process	Positive regulation of gene expression	IMP	14521927
GO:0030520	Biological process	Intracellular estrogen receptor signaling pathway	IDA	10428808
GO:0030521	Biological process	Androgen receptor signaling pathway	IDA	10428808, 19886863, 20048160
GO:0030522	Biological process	Intracellular receptor signaling pathway	IDA	17277772
GO:0042327	Biological process	Positive regulation of phosphorylation	IMP	21310825
GO:0045597	Biological process	Positive regulation of cell differentiation	IMP	14521927
GO:0045720	Biological process	Negative regulation of integrin biosynthetic process	IDA	21310825
GO:0045726	Biological process	Positive regulation of integrin biosynthetic process	IDA	21310825
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	11477070
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	12799378, 15572661, 16728402, 17505061, 20048160, 20181722
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IMP	19345326
GO:0045945	Biological process	Positive regulation of transcription by RNA polymerase III	IDA	18487222
GO:0051092	Biological process	Positive regulation of NF-kappaB transcription factor activity	IMP	21310825
GO:0071383	Biological process	Cellular response to steroid hormone stimulus	IMP	12902338
GO:0071391	Biological process	Cellular response to estrogen stimulus	IDA	10428808
GO:0071394	Biological process	Cellular response to testosterone stimulus	IDA	10428808
GO:1903076	Biological process	Regulation of protein localization to plasma membrane	IDA	21310825
GO:2001237	Biological process	Negative regulation of extrinsic apoptotic signaling pathway	IDA	21310825
GO:0000790	Cellular component	Nuclear chromatin	IDA	17277772, 17505061
GO:0005634	Cellular component	Nucleus	IDA	15572661, 19345326
GO:0005737	Cellular component	Cytoplasm	IDA	15572661, 17510388
GO:0016607	Cellular component	Nuclear speck	IDA	23566155
GO:0032991	Cellular component	Protein-containing complex	IDA	18468998
GO:0000976	Molecular function	Transcription regulatory region sequence-specific DNA binding	IDA	12799378, 18487222, 19886863
GO:0000978	Molecular function	RNA polymerase II proximal promoter sequence-specific DNA binding	IDA	16728402
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0001085	Molecular function	RNA polymerase II transcription factor binding	IPI	16120611
GO:0001091	Molecular function	RNA polymerase II basal transcription factor binding	IPI	20181722
GO:0001225	Molecular function	RNA polymerase II transcription coactivator binding	IDA	10428808
GO:0001225	Molecular function	RNA polymerase II transcription coactivator binding	IPI	10428808
GO:0001228	Molecular function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	16728402
GO:0003682	Molecular function	Chromatin binding	IDA	21730289
GO:0003700	Molecular function	DNA-binding transcription factor activity	IDA	11477070, 15572661
GO:0004879	Molecular function	Nuclear receptor activity	IDA	12799378, 17277772, 19886863, 20048160, 25091737
GO:0004879	Molecular function	Nuclear receptor activity	IMP	19345326
GO:0004879	Molecular function	Nuclear receptor activity	TAS	15572661
GO:0005102	Molecular function	Signaling receptor binding	IPI	11875111
GO:0005497	Molecular function	Androgen binding	IDA	3353726, 12799378, 25091737
GO:0005515	Molecular function	Protein binding	IPI	10075738, 10930412, 10987273, 11477070, 12864730, 14645241, 15563469, 15572661, 16027218, 16051670, 16120611, 16461912, 16494870, 16724108, 16951154, 17108144, 17170703, 17183365, 17202144, 17353003, 17426252, 17510388, 17909037, 18332867, 18451096, 18451177, 18487222, 18640093, 193
GO:0008013	Molecular function	Beta-catenin binding	IDA	12799378
GO:0008013	Molecular function	Beta-catenin binding	IPI	12799378
GO:0008013	Molecular function	Beta-catenin binding	TAS	16344550
GO:0008134	Molecular function	Transcription factor binding	IPI	12799378
GO:0019899	Molecular function	Enzyme binding	IPI	17277772, 17587566
GO:0051117	Molecular function	ATPase binding	IDA	12058073
GO:0070491	Molecular function	Repressing transcription factor binding	IBA	21873635

Protein Information

Protein Name

Androgen receptor, dihydrotestosterone receptor, nuclear receptor subfamily 3 group C member 4

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. .; 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.

Refseq Proteins

NP_000035.2, NP_001011645.1, NP_001334990.1, NP_001334992.1, NP_001334993.1

UniProt

P10275

PDB

1E3G, 1GS4, 1T5Z, 1T63, 1T65, 1XJ7, 1XOW, 1XQ3, 1Z95, 2AM9, 2AMA, 2AMB, 2AO6, 2AX6, 2AX7, 2AX8, 2AX9, 2AXA, 2HVC, 2OZ7, 2PIO, 2PIP, 2PIQ, 2PIR, 2PIT, 2PIU, 2PIV, 2PIW, 2PIX, 2PKL, 2PNU, 2Q7I, 2Q7J, 2Q7K, 2Q7L, 2YHD, 2YLO, 2YLP, 2YLQ, 2Z4J, 3B5R, 3B65, 3B66, 3B67, 3B68, 3BTR, 3L3X, 3L3Z, 3RLJ, 3RLL, 3V49,