RANBP2 wt Allele

Preferred Label : RANBP2 wt Allele;

NCIt synonyms : NUP358; IIAE3; ADANE; RAN Binding Protein 2 wt Allele; ANE1; TRP1; TRP2;

NCIt definition : Human RANBP2 wild-type allele is located in the vicinity of 2q12.3 and is approximately 66 kb in length. This allele, which encodes E3 SUMO-protein ligase RanBP2 protein, plays a role in both nuclear transport and protein SUMOylation. Mutation of the gene is associated with acute infection-induced encephalopathy 3. A chromosomal translocation t(2;2)(p23;q13) involving this gene and the ALK gene is associated with both inflammatory myofibroblastic tumor and, more rarely, myeloproliferative disorders.;

GenBank Accession Number : D42063;

Details

Origin ID

C114453;

UMLS CUI

C3811248;

Automatic exact mappings (from CISMeF team)
- Familial acute necrotizing encephalopathy [ORDO Disease]
- RAN binding protein 2 [ORDO Gene]
- Ran-binding protein 2 [OMIM gene]
- Transient receptor potential cation channel, subfamily C, member 1 [OMIM gene]
- Trna proline (anticodon agg) 2-5 [OMIM gene]
- Trna proline (anticodon agg) 2-6 [OMIM gene]
- dopachrome isomerase activity [GO term]
- ran-binding protein 2 [MeSH Supplementary Concept]
OMIM relation
- Ran-binding protein 2 [OMIM gene]
See also inter- (CISMeF)
- Encephalopathy, acute, infection-induced, susceptibility to, 3 [OMIM Phenotype]
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
- 2q12.3 [NCIt concept]
gene_is_element_in_pathway
- HDAC Class I Signaling Pathway [NCIt concept]
- HDAC Class II Signaling Pathway [NCIt concept]
- Mitotic Spindle Regulation Pathway [NCIt concept]
- Protein Import into Nucleus Pathway [NCIt concept]
- RANBP2-Mediated Sumoylation Transcription Regulation Pathway [NCIt concept]
- Ran Cycling Pathway [NCIt concept]
- Sumoylation Regulation of Transcriptional Repression Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Nucleocytoplasmic Transport [NCIt concept]
- Post-Translational Modification [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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