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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GDNF Gene

protein-coding GIFtS: 66
GCID: GC05M037812

glial cell derived neurotrophic factor

Explore 126 diseases affiliated with
GDNF via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Glial Cell Derived Neurotrophic Factor¹ ²		ATF² ³
ATF1¹ ²		HSCR3² ⁵
ATF2¹ ²		Glial Cell Line-Derived Neurotrophic Factor²
HFB1-GDNF¹ ²		HGDNF¹
Astrocyte-Derived Trophic Factor² ³

External Ids:	HGNC: 4232¹	Entrez Gene: 2668²	Ensembl: ENSG00000168621⁷	OMIM: 600837⁵	UniProtKB: P39905³

ORGUL members:
	NONCODE:n340431

Export aliases for GDNF gene to outside databases

Previous GC identifers: GC05M037999 GC05M038881 GC05M037815 GC05M037861 GC05M037851 GC05M037765

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GDNF:

This gene encodes a highly conserved neurotrophic factor. The recombinant form of this protein 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. The encoded protein is processed to a mature secreted form that exists as a homodimer. The mature

form of the protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Multiple

transcript variants encoding different isoforms have been found for this gene. Mutations in this gene may be

associated with Hirschsprung disease. (provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: GDNF_HUMAN, P39905

Function: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and

increases their high-affinity dopamine uptake

Gene Wiki entry for GDNF (Glial cell line-derived neurotrophic factor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006576.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GDNF gene promoter:
CREB deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GDNF promoter sequence

Search SABiosciences Chromatin IP Primers for GDNF

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GDNF

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13.1-p12 Ensembl cytogenetic band: 5p13.2 HGNC cytogenetic band: 5p13.1-p12

GDNF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GDNF gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M037812: view genomic region (about GC identifiers)

Start:	37,812,779 bp from pter	End:	37,839,788 bp from pter
Size:	27,010 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GDNF_HUMAN, P39905 (See protein sequence)

Recommended Name: Glial cell line-derived neurotrophic factor precursor

Size: 211 amino acids; 23720 Da

Subunit: Homodimer; disulfide-linked

Subcellular location: Secreted

2 PDB 3D structures from and Proteopedia for GDNF:

2V5E (3D)

3FUB (3D)

Secondary accessions: B7WPK7 O95448 O95449 O95986 Q6FH33 Q96L44 Q9UD32 Q9UD33 Q9UMV2 Q9UP67 Q9UP97

Alternative splicing: 5 isoforms: P39905-1 P39905-2 P39905-3 P39905-4 P39905-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GDNF: NX_P39905

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P39905

GDNF Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_000505.1 NP_001177397.1 NP_001177398.1 NP_954701.1

ENSEMBL proteins:

ENSP00000317145 ENSP00000371248 ENSP00000409007 ENSP00000425928 ENSP00000424592

ENSP00000423557 ENSP00000339703

Reactome Protein details: P39905
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IDA	9811930

GDNF for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for GDNF

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GDNF for domains About GeneDecksing

2 InterPro domains/families:

IPR016649 GDNF

IPR001839 TGF-b_C

Graphical View of Domain Structure for InterPro Entry P39905

ProtoNet protein and cluster: P39905

2 Blocks protein families:

IPB001839 Transforming growth factor beta (TGFb)

IPB002400 Growth factor cystine knot superfamily signature

UniProtKB/Swiss-Prot: GDNF_HUMAN, P39905

Similarity: Belongs to the TGF-beta family. GDNF subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: GDNF_HUMAN, P39905

Function: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and

increases their high-affinity dopamine uptake

Induction: By cAMP, 12-O-tetradecanoylphorbol-13-acetate (TPA) and FGF2

Genatlas biochemistry entry for GDNF:

glial cell line derived neurotrophic factor (TGFB superfamily),promotic survival and differentiation of subpopulations

of central and peripheral neurons including several groups that are altered in many neurodegenerative

disorders,expressed in developing gut,kidney,mesenchyma,and central nervous system

		10/393 SABiosciences Target genes for GDNF (see all 393):
		A4GALT AATK ACRBP ACY3 ADAM17 ADAT3 ADRB1 ALOX15 ALPPL2 AMACR

Summary:

During embryonic development, GDNF as signaling molecule is secreted from the following cells: Basal Plate Cells in Mesencephalic Basal Plate, Metanephric Mesenchyme Cells in Metanephric Mesenchyme (see all 3).

It affects the following cells: Embryonic Dopaminergic Neurons in Ventral Tegmental Area, Embryonic Dopaminergic Neurons in Substantia Nigra pars Compacta (see all 5).

GDNF as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Motor neuron-like cells, Dorsal forebrain-like precursor cells (see all 23).

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		hsa-miR-411* hsa-miR-548j hsa-miR-3607-3p hsa-miR-4254 hsa-miR-146a hsa-miR-1224-3p hsa-miR-218-1* hsa-miR-1260b

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDNF

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005102	receptor binding	TAS	10829012
GO:0008083	growth factor activity	NAS	--
GO:0042803	protein homodimerization activity	IDA	8988018

GDNF for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for GDNF: Gdnf^tm2Bbd Gdnf^tm1Lmgd
     13 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Gdnf):

behavior/neurological	cardiovascular system	cellular	digestive/alimentary	endocrine/exocrine gland
growth/size	hematopoietic system	immune system	mortality/aging	muscle
nervous system	renal/urinary system	reproductive system

GDNF for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Development EGFR signaling pathway

	Development_GDNF family signaling	0.45			GDNF-Family Ligands and Receptor Interactions	0.21
	Development GDNF family signaling	0.45

NCAM signaling for neurite out-growth

NCAM signaling for neurite out-growth

1.00

NCAM1 interactions

0.62

Axon guidance

Axon guidance

1.00

Developmental Biology

0.69

G-protein signaling K-RAS regulation pathway

G-protein signaling_H-RAS regulation pathway

0.27

G-protein signaling H-RAS regulation pathway

0.27

Signaling events regulated by Ret tyrosine kinase

Signaling events regulated by Ret tyrosine kinase

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for GDNF

	Development GDNF family signaling
	G-protein signaling H-RAS regulation pathway

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GDNF

	GDNF-Family Ligands and Receptor Interactions
	PEDF Induced Signaling

2 GeneGo (Thomson Reuters) Pathways for GDNF

	G-protein signaling H-RAS regulation pathway
	Development GDNF family signaling

1 BioSystems Pathway for GDNF

Signaling events regulated by Ret tyrosine kinase

4 Reactome Pathways for GDNF

	Developmental Biology
	NCAM1 interactions
	NCAM signaling for neurite out-growth
	Axon guidance

GDNF for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GDNF

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/34 Interacting proteins for GDNF (P39905³ ENSP00000317145⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GFRA2	O00451³, ENSP00000306654⁴	I2D: score=2 STRING: ENSP00000306654
GFRA1	P56159³, ENSP00000393725⁴	I2D: score=3 STRING: ENSP00000393725
NCAM1	P13591³, ENSP00000318472⁴	I2D: score=1 STRING: ENSP00000318472
RET	P07949³, ENSP00000347942⁴	I2D: score=1 STRING: ENSP00000347942
ARTN	ENSP00000391998⁴	STRING: ENSP00000391998

About this table

Gene Ontology (GO): 5/30 biological process terms (GO ID links to tree view) (see all 30): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001656	metanephros development	ISS	--
GO:0001657	ureteric bud development	--	--
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	--
GO:0001755	neural crest cell migration	IDA	15242795
GO:0001759	organ induction	IEA	--

GDNF for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GDNF for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GDNF

1 HMDB Compound for GDNF About this table

Compound	Synonyms	CAS #	PubMed Ids
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--

10/75 Novoseek chemical compound relationships for GDNF gene (see all 75) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	74.9	229	10448070 (2), 11002419 (2), 18343820 (2), 17210798 (2) (see all 99)
rasagiline	70.2	22	14687604 (3), 17055733 (1), 18077571 (1), 19673610 (1) (see all 8)
dopamine	69.4	249	10642847 (6), 9681441 (5), 7830766 (4), 17895431 (4) (see all 96)
6-hydroxydopamine	66.8	23	7568047 (2), 9449424 (1), 11069582 (1), 14597321 (1) (see all 18)
ammonium trichloro(dioxoethylene-o,o')tellurate	62.9	1	12595497 (1)
mptp	59.1	29	7830766 (3), 17141511 (3), 8637574 (1), 17439984 (1) (see all 13)
propargylamine	57.7	2	18077571 (1), 16148027 (1)
as 101	47.3	5	16169589 (2), 12595497 (1), 17314138 (1)
1 methyl 4 phenylpyridinium	46.4	13	8522992 (5), 17109014 (2), 19647008 (1), 10465695 (1)
phosphatidylinositol	45	34	11377858 (3), 9798915 (3), 15289335 (2), 18071753 (2) (see all 20)

Search CenterWatch for drugs/clinical trials and news about GDNF

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GDNF gene (5 alternative transcripts):

NM_000514.3 NM_001190468.1 NM_001190469.1 NM_199231.2 NM_199234.1

Unigene Cluster for GDNF:

Glial cell derived neurotrophic factor

Hs.248114 [show with all ESTs]

Unigene Representative Sequence: NM_001190468

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000326524(uc011cpg.2 uc011cpi.2) ENST00000381826 ENST00000427982

ENST00000515058 ENST00000510177 ENST00000502572 ENST00000344622(uc011cpd.2 uc011cpe.2 uc011cpf.2 uc011cph.2)

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		hsa-miR-411* hsa-miR-548j hsa-miR-3607-3p hsa-miR-4254 hsa-miR-146a hsa-miR-1224-3p hsa-miR-218-1* hsa-miR-1260b

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Additional cDNA sequence:

AF053748.1 AJ001897.1 AJ001898.1 AJ001899.1 AJ001900.1 AY052832.1 BC008580.1 BC069119.1

BC069369.1 BC128108.1 BC128109.1 CR541923.1 DQ235474.1

5 DOTS entries:

DT.92022248 DT.319760 DT.426387 DT.95360768 DT.433113

12 AceView cDNA sequences:

AF053748 AY052832 AJ001900 BC069369 NM_000514 NM_199234 BC069119 AJ001897

AJ001898 AJ001899 CR541923 NM_199231

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for GDNF About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4a	·	4b
SP1:			-		-
SP2:					-
SP3:									-

ECgene alternative splicing isoforms for GDNF

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GDNF expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

GDNF expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Metanephric Mesenchyme

Metanephric Mesenchyme Cells

Selective marker (cell-identifying gene)

Kidney

Testis

Atrioventricular Node

Atrioventricular Node Cells

Myocardium

Limb

Forelimb Myotome

Limb Muscle Progenitor Cells

Skeletal Muscle

Kidney

Metanephros

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

mK4 (Cell line)

Kidney

ES-J1 (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Long-time differentiated EBs (Derivation of embryo...)

Renal progenitor cells (Metanephric Mesenchyme-like cells) (Stepwise renal linea...)

Definitive endoderm-like cells (A scalable, suspensi...)

See GDNF Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GDNF

SOURCE GeneReport for Unigene cluster: Hs.248114

UniProtKB/Swiss-Prot: GDNF_HUMAN, P39905

Tissue specificity: In the brain, predominantly expressed in the striatum with highest levels in the caudate and lowest

in the putamen. Isoform 2 is absent from most tissues except for low levels in intestine and kidney. Highest

expression of isoform 3 is found in pancreatic islets. Isoform 5 is expressed at very low levels in putamen, nucleus

accumbens, prefrontal cortex, amygdala, hypothalamus and intestine. Isoform 3 is up-regulated in the middle temporal

gyrus of Alzheimer disease patients while isoform 2 shows no change

SABiosciences Expression via Pathway-Focused PCR Arrays including GDNF:

Neurogenesis in human mouse rat

Growth Factors in human mouse rat

WNT Signaling Targets in human mouse rat

Neurotrophins & Receptors in human mouse rat

Apoptosis 384HT in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDNF

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GDNF gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gdnf^{1 , 5}	glial cell line derived neurotrophic factor^{1, 5}	90(n)¹ 92.73(a)¹		15 (3.80 cM)⁵ 14573¹ NM_010275.2¹ NP_034405.1¹ 7811011⁵
chicken (Gallus gallus)	Aves	GDNF¹	glial cell derived neurotrophic factor	78.94(n) 77.27(a)		395569 XM_425018.3 XP_425018.3
lizard (Anolis carolinensis)	Reptilia	GDNF⁶	--	67(a)	1 ↔ 1	GL343241.1(765206-778070)
zebrafish (Danio rerio)	Actinopterygii	gdnf²	glial cell derived neurotrophic factor	72.79(n)		79379 AF329853.1

ENSEMBL Gene Tree for GDNF (if available)
TreeFam Gene Tree for GDNF (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GDNF gene

PSPN² ARTN² NRTN²

1 SIMAP similar gene for GDNF using alignment to 1 protein entry: GDNF_HUMAN:

NRTN

GDNF for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs36119840^1,2	C,F,H,	pathogenic	37768646(+)	`CTGCCG/AATTCC`	8	/R /W	mis¹		8		NA NS EU	6623
rs121918536^1,2	C	other	37768290(-)	`TGTATC/GTGACT`	8	I M	mis¹		0	--	--	--	--
rs104893891^1,2	C	other	37768463(-)	`CTGAGA/TCAACG`	8	T S	mis¹		0	--	--	--	--
rs76466003^1,2	C,F,	other	37768475(-)	`CTTGCG/AATGCA`	8	/N /D	mis¹		1		NA	4550
rs77829873^1,2	F,	--	37764985(+)	`TCACTA/GCATAT`	4	--	ds500¹		1		WA	118
rs77776214^1,2	C,F,	--	37765404(-)	`TGGTCG/ATTTGT`	4	--	ut3¹		1		WA	118
rs3763044^1,2	C,H	--	37765456(+)	`TTACGG/TTATCA`	4	--	ut3¹		5		NS EA NA	388
rs79174336^1,2		--	37765495(+)	`ACAAAC/TTTTAC`	4	--	ut3¹		1		EA	120
rs73748994^1,2	C,	--	37765551(+)	`TTGTGG/ATGTGT`	4	--	ut3¹		1		WA	2
rs11740337^1,2	H	--	37765635(+)	`AGTTGT/ATGGGG`	4	--	ut3¹		4		NS EA	418

HapMap Linkage Disequilibrium report for GDNF (37812779 - 37839788 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GDNF
1 CNV: 64184
Human Gene Mutation Database (HGMD): GDNF

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GDNF

DNA2.0 Custom Variant and Variant Library Synthesis for GDNF

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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GDNF for disorders           About GeneDecksing

OMIM gene information: 600837
OMIM disorders: 209880  171300  613711
UniProtKB/Swiss-Prot: GDNF_HUMAN, P39905

Defects in GDNF may be a cause of Hirschsprung disease type 3 (HSCR3) [MIM:613711]. In association with

mutations of RET gene, defects in GDNF may be involved in Hirschsprung disease. This genetic disorder of neural crest

development is characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal

obstruction

Defects in GDNF are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as

congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of

respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in

autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia

and hypoxemia

20/126 diseases for GDNF (see all 126): About MalaCards

hirschsprung's disease spinal cord disease spinal cord injury gilles de la tourette syndrome

multiple endocrine neoplasia type 2a multiple endocrine neoplasia relapsing-remitting multiple sclerosis central hypoventilation syndrome

spinal cord ischemia diffuse large b-cell lymphoma human t-cell leukemia virus type 1 medullary sponge kidney

attention deficit hyperactivity disorder congenital central hypoventilation syndrome pyloric stenosis chronic inflammatory demyelinating polyneuropathy

hypertrophic pyloric stenosis demyelinating polyneuropathy amyotrophic lateral sclerosis sacrococcygeal teratoma

7 diseases from the University of Copenhagen DISEASES database for GDNF:

Parkinson's disease Hirschsprung's disease Renal agenesis Amyotrophic lateral sclerosis

Toxic encephalopathy Cerebrovascular accident Familial medullary thyroid carcinoma

10/95 Novoseek disease relationships for GDNF gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hirschsprung disease	86.1	49	9098026 (5), 9473110 (2), 10859088 (2), 10962905 (2) (see all 31)
parkinson disease	81.2	215	16644101 (4), 9613719 (4), 16794346 (4), 16876872 (4) (see all 99)
multiple endocrine neoplasia	77.2	7	10448070 (1), 9284737 (1), 9299438 (1), 9681515 (1) (see all 5)
men 2a	72.7	22	9299438 (3), 10448070 (2), 9620546 (2), 9681515 (2) (see all 9)
neurodegenerative diseases	68.9	32	10321971 (2), 19059641 (2), 15023458 (1), 18154038 (1) (see all 18)
thyroid carcinoma, familial medullary	66.1	1	14715928 (1)
neurodegeneration	58.1	27	17895431 (2), 15474365 (2), 12235826 (1), 10686085 (1) (see all 21)
amyotrophic lateral sclerosis	57.4	25	12635522 (2), 10202982 (2), 8929992 (1), 11582516 (1) (see all 15)
thyroid carcinoma medullary	54.8	1	15753368 (1)
renal agenesis	54.7	2	20357966 (1), 18252215 (1)

GeneTests: GDNF

Hirschsprung Disease

Genetic Association Database (GAD): GDNF
Human Genome Epidemiology (HuGE) Navigator: GDNF (21 documents)

Export disorders for GDNF gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for GDNF gene, integrated from 9 sources (see all 989):
(articles sorted by number of sources associating them with GDNF)

Utopia: connect your pdf to the dynamic
world of online information

GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons. (PubMed id 8493557)^{1, 2, 3, 9} Lin L.-F.H.... Collins F. (1993)
Multiple astrocyte transcripts encode nigral trophic factors in rat and human. (PubMed id 7867768)^{1, 2, 9} Schaar D.G.... Black I.B. (1994)
3' UTR (AGG)n repeat of glial cell line-derived neurotrophic factor (GDNF) gene polymorphism in schizophrenia. (PubMed id 15003293)^{1, 4, 9} Michelato A....Gennarelli M. (2004)
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. (PubMed id 8896569)^{1, 2, 9} Salomon R....Lyonnet S. (1996)
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. (PubMed id 8896568)^{1, 2, 9} Angrist M.... Chakravarti A. (1996)
Glial cell line-derived neurotrophic factor (GDNF) gene and schizophrenia: polymorphism screening and association analysis. (PubMed id 11600185)^{1, 4, 9} Lee K....Nanko S. (2001)
Pathogenesis of Hirschsprung's disease. (PubMed id 10917288)^{1, 2, 9} Martucciello G.... Jasonni V. (2000)
Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products. (PubMed id 9811930)^{1, 2, 9} Grimm L.... Ueffing M. (1998)
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. (PubMed id 9359036)^{1, 2, 9} Hofstra R.M.W.... Buys C.H.C.M. (1997)
De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. (PubMed id 8968758)^{1, 2, 9} Ivanchuk S.M.... Mulligan L.M. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2668	HGNC: 4232	AceView: GDNF	Ensembl:ENSG00000168621	euGenes: HUgn2668
ECgene: GDNF	H-InvDB: GDNF

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GDNF	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for GDNF	Genetics and Cytogenetics in Oncology and Haematology
R&D Systems' cytokine mini-reviews: GDNF	http://www.rndsystems.com/molecule_detail.aspx?m=1510
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GDNF

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Patent Information for GDNF gene:
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GeneCards and IP:
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GDNF Gene

glial cell derived neurotrophic factor

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