TBL1Y wt Allele

Preferred Label : TBL1Y wt Allele;

NCIt synonyms : Transducin-Beta-Like 1, Y-Linked Gene; TBL1; Transducin (Beta)-Like 1, Y-Linked Gene; DFNY2; Transducin Beta Like 1 Y-Linked wt Allele;

NCIt definition : Human TBL1Y wild-type allele is located in the vicinity of Yp11.2 and is approximately 199 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1Y, is involved in the modulation of nuclear corepressor complex activity. Mutations in the gene are associated with Y-linked deafness 2.;

NCIt note : This gene has three alternatively spliced transcript variants encoding the same protein and is highly similar to the TBL1X gene on the X chromosome. (EntrezGene);

NCI Metathesaurus CUI : CL1647883;

GenBank Accession Number : AF332220;

Details

Origin ID

C178216;

UMLS CUI

C5550977;

Automatic exact mappings (from CISMeF team)
- Deafness, y-linked 2 [OMIM Phenotype]
- Transducin-beta-like 1, X-linked [OMIM gene]
- Y-linked deafness 2 [DO Concept]
OMIM relation
- Transducin-beta-like 1, y-linked [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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Yp11.2 [NCIt concept]
gene_is_element_in_pathway
- Wnt Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Proteasome Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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