GDNF - glial cell derived neurotrophic factor Gene
Also Known as ATF; ATF1; ATF2; HSCR3; HFB1-GDNF
Species: Homo sapiens
About GDNF
This gene has 8 transcripts (splice variants), 264 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 1.7), ovary (RPKM 1.5) and 18 other tissues.
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of Smad Family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent Apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
GDNF Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_000514.4 | NP_000505.1 | glial cell line-derived neurotrophic factor isoform 1 preproprotein |
| NM_001190468.1 | NP_001177397.1 | glial cell line-derived neurotrophic factor isoform 3 |
| NM_001190469.1 | NP_001177398.1 | glial cell line-derived neurotrophic factor isoform 4 precursor |
| NM_001278098.1 | NP_001265027.1 | glial cell line-derived neurotrophic factor isoform 5 |
| NM_199231.2 | NP_954701.1 | glial cell line-derived neurotrophic factor isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables growth factor activity |
IDA
IDA: Inferred from direct assay
|
8493557 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21994944 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
8493557 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
21994944 | GOA |
| located in extracellular region |
IDA
IDA: Inferred from direct assay
|
9811930 | GOA |
| is active in extracellular space |
IDA
IDA: Inferred from direct assay
|
21994944 | GOA |
GDNF Protein Structure
TGF_beta: Transforming growth factor beta like domain (116 - 211)
- 0
- 100
- 200
- 211 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glial cell line-derived neurotrophic factor |
|
GDNF Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GDNF | P39905 | AGTRAP | Homo sapiens | Q6RW13 | 25416956 |
Recombinant GDNF Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7182 | GDNF Protein, Human | P39905-1 (S78-I211) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P73074 | GDNF Protein, Human (HEK293) | P39905-2 (R83-I185) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P7182A | GDNF Protein, Human (His) | P39905-1 (S78-I211) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P700084AF | Animal-Free GDNF Protein, Human (His) | P39905-1 (S78-I211) | ≥ 95%, as determined by reducing SDS-PAGE. |
GDNF Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82746 | GDNF Antibody (YA2491) | WB, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hirschsprung Disease 3 |
|
|
| Spinal Cord Injury |
|
|
| Congenital Central Hypoventilation Syndrome |
|
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| Spinal Cord Disease |
|
|
| Intestinal Obstruction |
|
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| Multiple Endocrine Neoplasia |
|
|
| Neuroma |
|
|
| Hirschsprung Disease 1 |
|
|
| Multiple Endocrine Neoplasia, Type Iia |
|
|
| Thyroid Carcinoma, Familial Medullary |
|
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| Constipation |
|
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| Pheochromocytoma |
|
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| Medullary Sponge Kidney |
|
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| Renal Hypodysplasia/Aplasia 1 |
|
|
| Goldberg-Shprintzen Syndrome |
|
|
| Diabetic Neuropathy |
|
|
| Multiple Endocrine Neoplasia, Type Iib |
|
|
| Parkinson Disease, Late-Onset |
|
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| Parkinsonism |
|
|
| Brachial Plexus Lesion |
|
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| Neuritis |
|
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| Meningoencephalitis |
|
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| Achalasia |
|
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| Pyloric Stenosis |
|
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| Major Depressive Disorder |
|
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| Retinal Degeneration |
|
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| Jejunoileitis |
|
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| Polyneuropathy |
|
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| Meningitis |
|
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| Urinary Tract Obstruction |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
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| Common Peroneal Nerve Lesion |
|
|
| Tetanus |
|
|
| Motor Neuron Disease |
|
|
| Papillorenal Syndrome |
|
|
| Multiple System Atrophy 1 |
|
|
| Megacolon |
|
|
| Paralytic Lagophthalmos |
|
|
| Multiple Mucosal Neuroma |
|
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| Renal Hypoplasia |
|
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| Thyroid Gland Cancer |
|
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| Focal Hand Dystonia |
|
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| Bipolar Disorder |
|
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| Narcolepsy |
|
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| Rett Syndrome |
|
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| Intraocular Pressure Quantitative Trait Locus |
|
|
| Thyroid Gland Medullary Carcinoma |
|
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| Pancreatic Cancer |
|
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| Striatonigral Degeneration |
|
|
| Hydrocephalus |
|
|
| Acoustic Neuroma |
|
|
| Anxiety |
|
|
| Toxic Encephalopathy |
|
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| Mood Disorder |
|
|
| Cakut |
|
|
| Neuromuscular Disease |
|
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| Cerebral Artery Occlusion |
|
|
| Stroke, Ischemic |
|
|
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
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| Schizophrenia |
|
|
| Spinal Muscular Atrophy |
|
|
| Vesicoureteral Reflux |
|
|
| Febrile Seizures, Familial, 1 |
|
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| Neuroblastoma |
|
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| Heart Disease |
|
|
| Alzheimer Disease, Familial, 1 |
|
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| Huntington Disease |
|
|
| Movement Disease |
|
|
| Spermatogenic Failure |
|
|
| Microcephaly |
|
|
| Peripheral Nervous System Disease |
|
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| Polycystic Kidney Disease |
|
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| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Nervous System Disease |
|
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| Retinitis Pigmentosa |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Eye Disease |
|
|
| Leber Plus Disease |
|
|
| Fundus Dystrophy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | GDNF | VGNC | VGNC:29309 |
| Macaca mulatta | GDNF | VGNC | VGNC:72912 |
| Mus musculus | GDNF | MGD | MGI:107430 |
| Rattus norvegicus | GDNF | RGD | RGD:2677 |
| Canis familiaris | GDNF | VGNC | VGNC:41166 |
| Felis catus | GDNF | VGNC | VGNC:102212 |
| Others | GDNF | NCBI |