PATZ1 wt Allele

Preferred Label : PATZ1 wt Allele;

NCIt synonyms : RIAZ; POZ (BTB) and AT Hook Containing Zinc Finger 1 wt Allele; MAZR; MAZ-Related Factor Gene; Zinc Finger Protein 278 Gene; ZSG; ZNF278; PATZ; dJ400N23; ZBTB19;

NCIt definition : Human PATZ1 wild-type allele is located in the vicinity of 22q12.2 and is approximately 20 kb in length. This allele, which encodes POZ-, AT hook-, and zinc finger-containing protein 1, plays a role in the negative regulation of transcription. A chromosomal inversion inv(22)(q12q12) of this gene and the EWSR1 gene is associated with Ewing sarcoma.;

NCIt note : The inversion on chromosome 22 can be translocated to chromosome 1. Inversion inv(22)(q12q12) followed by translocation t(1;22)(p34;q12) fuses the PATZ1 gene and the EWSR1 gene, disrupts the UQCRH gene and is associated with desmoplastic small round cell tumor. (OMIM);

GenBank Accession Number : AL096880;

Details

Origin ID

C97877;

UMLS CUI

C3273672;

OMIM relation
- Zinc finger protein 278 [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
- 22q12.2 [NCIt concept]
gene_is_element_in_pathway
- Coregulation Pathway for Androgen Receptor Activity [NCIt concept]
gene_plays_role_in_process
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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