AR wt Allele - CISMeF

Preferred Label : AR wt Allele;

NCIt synonyms : AIS; NR3C4; TFM; SBMA; KD; SMAX1; DHTR; HUMARA; Androgen Receptor (Dihydrotestosterone Receptor; Testicular Feminization; Spinal and Bulbar Muscular Atrophy; Kennedy Disease) wt Allele;

NCIt definition : Human AR wild-type allele is located within Xq11.2-q12 and is approximately 180 kb in length. This allele, which encodes androgen receptor protein, is involved in steroid-hormone activated transcriptional regulation. Mutations in the gene are associated with complete androgen insensitivity syndrome.;

GenBank Accession Number : NM_000044;

Details

Origin ID

C51572;

UMLS CUI

C1705240;

False automatic mappings
- Scoliosis, isolated, susceptibility to, 1 [OMIM Phenotype]
- Spinal and bulbar muscular atrophy, X-linked 1 [OMIM Phenotype]
OMIM relation
- Androgen receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Androgen Insensitivity Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- X: 66546895-66727140 [NCIt concept]
gene_in_chromosomal_location
- Xq11.2-q12 [NCIt concept]
gene_is_element_in_pathway
- Androgen Receptor Regulation Pathway [NCIt concept]
- Coregulation Pathway for Androgen Receptor Activity [NCIt concept]
- FOXA1 Transcription Factor Signaling Pathway [NCIt concept]
- Nongenotropic Androgen Signaling Pathway [NCIt concept]
- Oocyte Meiosis Pathway [NCIt concept]
- Prostate Cancer Pathway [NCIt concept]
- Regulation of Nuclear SMAD2/3 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- DNA Binding [NCIt concept]
- Gene Expression [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Maturation [NCIt concept]
- Pattern Formation [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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