GEMIN2 wt Allele

Preferred Label : GEMIN2 wt Allele;

NCIt synonyms : Gem (Nuclear Organelle) Associated Protein 2 wt Allele; SIP1;

NCIt definition : Human GEMIN2 wild-type allele is located in the vicinity of 14q13 and is approximately 23 kb in length. This allele, which encodes gem-associated protein 2, plays a role in the formation of the spliceosome.;

NCIt note : There is a report of a chromosomal aberration involving the CTAGE5 gene and the GEMIN2 gene, which is associated with breast cancer. (COSMIC);

GenBank Accession Number : AF027150;

Details

Origin ID

C114434;

UMLS CUI

C3810617;

Automatic exact mappings (from CISMeF team)
- Gem nuclear organelle-associated protein 2 [OMIM gene]
- Solute carrier family 9, member 3, regulator 2 [OMIM gene]
- Sr-related C-terminal domain-associated factor 11 [OMIM gene]
- Zinc finger e box-binding homeobox 2 [OMIM gene]
- zinc finger E-box binding homeobox 2 [ORDO Gene]
OMIM relation
- Gem nuclear organelle-associated protein 2 [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
- 14q13 [NCIt concept]
gene_plays_role_in_process
- RNA Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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