PHOX2B wt Allele

Preferred Label : PHOX2B wt Allele;

NCIt synonyms : PMX2B; Paired Mesoderm Homeobox 2b Gene; Phox2b; NBPhox; Paired-Like Homeobox 2b wt Allele; NBLST2; Neuroblastoma Paired-Type Homeobox Gene;

NCIt definition : Human PHOX2B wild-type allele is located in the vicinity of 4p12 and is approximately 5 kb in length. This allele, which encodes paired mesoderm homeobox protein 2B, is involved in the modulation of gene expression. Mutation of the gene is associated with both congenital central hypoventilation syndrome and susceptibility to neuroblastoma type 2.;

NCIt note : HGNC and Ensembl report that the PHOX2B gene is located in the vicinity of 4p13.;

GenBank Accession Number : D82344;

Details

Origin ID

C97725;

UMLS CUI

C3273592;

OMIM relation
- Paired-like homeobox 2b [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
- 4p12 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hereditary Neuroblastoma [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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