GDNF
entrez
2668
canonical
uniprot
P39905
canonical
ensembl
ENSG00000168621
resolver
ensp
ENSP00000317145
resolver
ensp
ENSP00000339703
resolver
ensp
ENSP00000371248
resolver
ensp
ENSP00000409007
resolver
ensp
ENSP00000425928
resolver
ensp
ENSP00000478722
resolver
genesymbol
GDNF
resolver
hgnc
HGNC:4232
resolver
uniprot
A0A0S2Z3T2
resolver
uniprot
A0A0S2Z3V2
resolver
uniprot
B7WPK7
resolver
uniprot
O95448
resolver
uniprot
O95449
resolver
uniprot
O95986
resolver
uniprot
Q6FH33
resolver
uniprot
Q96L44
resolver
uniprot
Q9UD32
resolver
uniprot
Q9UD33
resolver
uniprot
Q9UMV2
resolver
uniprot
Q9UP67
resolver
uniprot
Q9UP97
resolver
uniprot_entry
A0A0S2Z3T2_HUMAN
resolver
uniprot_entry
A0A0S2Z3V2_HUMAN
resolver
uniprot_entry
GDNF_HUMAN
resolver
uniprot_sec
B7WPK7
resolver
uniprot_sec
O95448
resolver
uniprot_sec
O95449
resolver
uniprot_sec
O95986
resolver
uniprot_sec
Q6FH33
resolver
uniprot_sec
Q96L44
resolver
uniprot_sec
Q9UD32
resolver
uniprot_sec
Q9UD33
resolver
uniprot_sec
Q9UMV2
resolver
uniprot_sec
Q9UP67
resolver
uniprot_sec
Q9UP97
resolver
amino_acid_sequence
MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPFALSSDSNMPEDYPDQFDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPENSRGKGRRGQRGKNRGCVLTAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKILKNLSRNRRLVSDKVGQACCRPIAFDDDLSFLDDNLVYHILRKHSAKRCGCI
uniprot
proteins
disease_involvement
DISEASE: Hirschsprung disease 3 (HSCR3) [MIM:613711]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. {ECO:0000269|PubMed:10917288, ECO:0000269|PubMed:8896568, ECO:0000269|PubMed:8896569, ECO:0000269|PubMed:8968758}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269|PubMed:9215674}. Note=The gene represented in this entry may act as a disease modifier.
uniprot
proteins
function
FUNCTION: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:8493557). Acts by binding to its coreceptor, GFRA1, leading to autophosphorylation and activation of the RET receptor (PubMed:10829012, PubMed:25242331, PubMed:31535977). Involved in the development of the neural crest (PubMed:15242795). {ECO:0000269|PubMed:10829012, ECO:0000269|PubMed:15242795, ECO:0000269|PubMed:25242331, ECO:0000269|PubMed:31535977, ECO:0000269|PubMed:8493557}.
uniprot
proteins
mass_dalton
23720
uniprot
proteins
protein_family
GDNF subfamily
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
10366742
uniprot
proteins
pubmed
10829012
uniprot
proteins
pubmed
10917288
uniprot
proteins
pubmed
15242795
uniprot
proteins
pubmed
15364913
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19478429
uniprot
proteins
pubmed
21994944
uniprot
proteins
pubmed
22081608
uniprot
proteins
pubmed
23333276
uniprot
proteins
pubmed
25242331
uniprot
proteins
pubmed
31535977
uniprot
proteins
pubmed
7867768
uniprot
proteins
pubmed
8493557
uniprot
proteins
pubmed
8896568
uniprot
proteins
pubmed
8896569
uniprot
proteins
pubmed
8968758
uniprot
proteins
pubmed
8988018
uniprot
proteins
pubmed
9215674
uniprot
proteins
pubmed
9359036
uniprot
proteins
pubmed
9497256
uniprot
proteins
pubmed
9811930
uniprot
proteins
sequence_length
211
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:21994944, ECO:0000269|PubMed:9811930}.
uniprot
proteins