Androgen Receptor Splice Variant 5,6,7es

Preferred Label : Androgen Receptor Splice Variant 5,6,7es;

NCIt synonyms : ARv567es; Androgen Receptor Splice Variant 12; Arv-12;

NCIt definition : Androgen receptor protein that is missing the amino acids encoded by exons 5-7 and part of the 5' end of exon 8 of the human AR gene. This variant protein contains nuclear receptor transcriptional activation and DNA binding domains and is missing the nuclear receptor ligand binding and activation function-2 domains. Expression of this variant is associated with a gain-of-function phenotype and may be associated with prostate cancer.;

NCI Metathesaurus CUI : CL509605;

PubMed : 21778211;

Details

Origin ID

C128291;

UMLS CUI

C4283898;

OMIM relation
- Androgen receptor [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- AR Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Nuclear Receptor Gene [NCIt concept]
- Receptor Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
- Transcription Factor Gene [NCIt concept]
- Transcription Regulation Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoplasm [NCIt concept]
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- DNA Binding Protein [NCIt concept]
- Hormone Receptor [NCIt concept]
- Sequence-Specific DNA Binding Protein [NCIt concept]
gene_product_has_chemical_classification
- Nuclear Hormone Receptor Superfamily [NCIt concept]
gene_product_has_structural_domain_or_motif
- Hormone Receptor DNA-Binding Domain [NCIt concept]
- Ligand Binding Domain [NCIt concept]
gene_product_plays_role_in_biological_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]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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