PACS2 wt Allele

Preferred Label : PACS2 wt Allele;

NCIt synonyms : Phosphofurin Acidic Cluster Sorting Protein 1-Like Gene; PACS1L; Phosphofurin Acidic Cluster Sorting Protein 2 wt Allele; EIEE66; DEE66; KIAA0602; PACS-2;

NCIt definition : Human PACS2 wild-type allele is located in the vicinity of 14q32.33 and is approximately 98 kb in length. This allele, which encodes phosphofurin acidic cluster sorting protein 2, is involved in intracellular localization of proteins and calcium ions. Mutations in the gene are associated with developmental and epileptic encephalopathy 66.;

NCIt note : There is a report of a chromosomal aberration involving the RBM14 gene and the PACS1 gene, which is associated with breast cancer. (COSMIC);

NCI Metathesaurus CUI : CL1926422;

GenBank Accession Number : AB011174;

Details

Origin ID

C204180;

UMLS CUI

C5890857;

OMIM relation
- Phosphofurin acidic cluster sorting protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q32.33 [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Calcium Homeostasis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Membrane Protein Traffic [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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