GDNF wt Allele

Preferred Label : GDNF wt Allele;

NCIt synonyms : Glial Cell Derived Neurotrophic Factor wt Allele; HSCR3; HFB1-GDNF; ATF2; ATF1;

NCIt definition : Human GDNF wild-type allele is located within 5p13.1-p12 and is approximately 24 kb in length. This allele, which encodes glial cell line-derived neurotrophic factor protein, is involved in both the survival and differentiation of dopaminergic neurons and in apoptotic motor neuron protection induced by axotomy. Mutantions in the gene produce variant alleles that are associated with Hirschsprung disease.;

GenBank Accession Number : NM_000514;

Details

Origin ID

C51505;

UMLS CUI

C1708119;

Automatic exact mappings (from CISMeF team)
- Activating transcription factor 1 [OMIM gene]
- Activating transcription factor 2 [OMIM gene]
- Hirschsprung disease, susceptibility to, 3 [OMIM Phenotype]
- activating transcription factor 1 [ORDO Gene]
- glial cell derived neurotrophic factor [ORDO Gene]
OMIM relation
- Glial cell line-derived neurotrophic factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Hirschsprung Disease [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 5: 37875539-37851510 [NCIt concept]
gene_in_chromosomal_location
- 5p13.1-p12 [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Neural Development [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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