TCF4 wt Allele

Preferred Label : TCF4 wt Allele;

NCIt synonyms : Transcription Factor 4 wt Allele; E2-2; SEF2; PTHS; ITF2; SEF-2; TCF-4; SEF2-1A; SEF2-1B; ITF-2; SEF2-1; bHLHb19;

NCIt definition : Human TCF4 wild-type allele is located 18q21.1 and is approximately 442 kb in length. This allele, which encodes transcription factor 4 protein, is involved in transcriptional regulation of immunoglobulin genes. Mutations in this gene are associated with Pitt-Hopkins syndrome.;

GenBank Accession Number : NM_003199;

Details

Origin ID

C105957;

UMLS CUI

C3811072;

Automatic exact mappings (from CISMeF team)
- PTEN hamartoma tumor syndrome [ORDO Disease]
- Pitt-hopkins syndrome [OMIM Phenotype]
- Transcription factor 4 [OMIM gene]
- Transcription factor 7-like 2 [OMIM gene]
- posterior nucleus of thalamus [UBERON concept]
- transcription factor 4 [ORDO Gene]
- transcription factor 7 like 2 [ORDO Gene]
OMIM relation
- Transcription factor 4 [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_plays_role_in_process
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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