The GDNF gene homepage

General information
Gene symbol GDNF
Gene name glial cell derived neurotrophic factor
Chromosome 5
Chromosomal band p13.1-p12
Imprinted Unknown
Genomic reference NG_011675.2
Transcript reference NM_000514.3, NM_001190468.1, NM_001190469.1, NM_001278098.1, NM_199231.2
Associated with diseases HSCR-3, pheochromocytoma, Central hypoventilation syndrome, congenital, with or without Hirschsprung disease (Haddad syndrome)
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 41
Unique public DNA variants reported 6
Individuals with public variants 32
Hidden variants 40
Date created November 30, -0001
Date last updated September 28, 2016
Version GDNF:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:4232
Entrez Gene 2668
PubMed articles GDNF
OMIM - Gene 600837
OMIM - Diseases HSCR-3 (Hirschsprung disease, type 3 (HSCR-3))
pheochromocytoma
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease (Haddad syndrome)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00044831 5 transcript variant 6 NM_001278098.1 NP_001265027.1 41
00021576 5 transcript variant 1 NM_000514.3 NP_000505.1 39
00021577 5 transcript variant 4 NM_001190469.1 NP_001177398.1 39
00021578 5 transcript variant 3 NM_001190468.1 NP_001177397.1 39
00021579 5 transcript variant 2 NM_199231.2 NP_954701.1 39