PAX5 wt Allele

Preferred Label : PAX5 wt Allele;

NCIt synonyms : PAX5 Beta; PAX5 Beta Gene; BSAP; Paired Box Homeotic Gene 5; Paired Box Gene 5 (B-Cell Lineage Specific Activator) Gene; ALL3; Paired Box 5 wt Allele; Paired Box Gene 5;

NCIt definition : Human PAX5 wild-type allele is located in the vicinity of 9p13 and is approximately 201 kb in length. This allele, which encodes paired box gene Pax-5 protein, is involved in transcriptional activation during B-cell differentiation, neural development and spermatogenesis. In some lymphomas, the expression of the wild-type allele is elevated as a result of a translocation t(9;14)(p13;q32).;

GenBank Accession Number : NM_016734;

Details

Origin ID

C52146;

UMLS CUI

C1706026;

OMIM relation
- Paired box gene 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9p13 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- B Acute Lymphoblastic Leukemia with Germline PAX5 Mutation [NCIt concept]
- B Acute Lymphoblastic Leukemia with PAX5 Alteration [NCIt concept]
- B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation [NCIt concept]
gene_plays_role_in_process
- B-Cell Activation [NCIt concept]
- DNA Binding [NCIt concept]
- Neural Development [NCIt concept]
- Spermatogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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