MED12 wt Allele

Preferred Label : MED12 wt Allele;

NCIt synonyms : OKS; Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog (S. cerevisiae) Gene; Trinucleotide Repeat Containing 11 (THR-Associated Protein, 230kDa Subunit) Gene; CAGH45; FGS1; Mediator Complex Subunit 12 wt Allele; Human Opposite Paired Gene; KIAA0192; ARC240; OPA1; HOPA; TNRC11; TRAP230;

NCIt definition : Human MED12 wild-type allele is located in the vicinity of Xq13 and is approximately 24 kb in length. This allele, which encodes mediator of RNA polymerase II transcription subunit 12 protein, is involved in the modulation of RNA polymerase II activity. Mutation of the gene is associated with both Opitz-Kaveggia syndrome and Lujan-Fryns syndrome.;

GenBank Accession Number : U80742;

Details

Origin ID

C98211;

UMLS CUI

C3273878;

Automatic exact mappings (from CISMeF team)
- Mediator complex subunit 12 [OMIM gene]
- OPA1 mitochondrial dynamin like GTPase [ORDO Gene]
- Opa1 mitochondrial dynamin-like gtpase [OMIM gene]
- Opitz-Kaveggia syndrome [MeSH Supplementary Concept]
- Opitz-kaveggia syndrome [OMIM Phenotype]
- Optic atrophy 1 [OMIM Phenotype]
- mediator complex subunit 12 [ORDO Gene]
- optic atrophy 1 [DO Concept]
OMIM relation
- Mediator complex subunit 12 [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
- Xq13 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Breast Fibroepithelial Neoplasm [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]
- Transcription Initiation [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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