Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GDNF
Symbol Alias	ATF1, ATF2, HFB1-GDNF
Approved Name	glial cell derived neurotrophic factor
Name Alias	astrocyte-derived trophic factor, "glial cell line derived neurotrophic factor", "glial derived neurotrophic factor"
Location	5p13.1-p12
Position	chr5:37812677-37839686, -1
External Links	HGNC: 4232 Entrez Gene: 2668 Ensembl: ENSG00000168621 UCSC: uc011cpg.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Safari, R., 2014	SNP: rs2075680, rs79669773, rs62360370, rs142426358, rs78613670, rs147083416, rs115322727 Other variant: GDNF_Chr5:37812784_T/A, GDNF_Chr5:37812782_T/A, GDNF_Chr5:37814769_G/A	Our study proposes the suggestive association between polymorphisms in the potential regulatory sites of GDNF and bipolar disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 34)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005102	receptor binding	molecular function	TAS[10829012]	37
GO:0007411	axon guidance	biological process	TAS	60
GO:0007399	nervous system development	biological process	TAS[8637574]	40
GO:0031175	neuron projection development	biological process	IDA[15242795]	10

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008344	adult locomotory behavior	biological process	TAS[12358785]	15
GO:0032770	positive regulation of monooxygenase activity	biological process	IDA[12358785]	1
GO:0001759	organ induction	biological process	IEA	1
GO:0033603	positive regulation of dopamine secretion	biological process	TAS[12358785]	4
GO:0021784	postganglionic parasympathetic fiber development	biological process	ISS	1
GO:0051584	regulation of dopamine uptake involved in synaptic transmission	biological process	IDA[8493557]	4
GO:0030432	peristalsis	biological process	ISS	5
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	biological process	IEA	2
GO:0042803	protein homodimerization activity	molecular function	IDA[8493557]	71
GO:0001658	branching involved in ureteric bud morphogenesis	biological process	ISS	6
GO:0008083	growth factor activity	molecular function	IEA	15
GO:0048255	mRNA stabilization	biological process	IDA[12358785]	2
GO:0072108	positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	biological process	IEA	2
GO:0060688	regulation of morphogenesis of a branching structure	biological process	ISS	2
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	biological process	IDA[17229286]	3
GO:0072107	positive regulation of ureteric bud formation	biological process	IDA[8657307]	1
GO:0001755	neural crest cell migration	biological process	IDA[15242795]	2
GO:0043524	negative regulation of neuron apoptotic process	biological process	IDA[8493557]	26
GO:0043066	negative regulation of apoptotic process	biological process	TAS[7830769]	46
GO:0008284	positive regulation of cell proliferation	biological process	IDA[22897442]	44
GO:0060676	ureteric bud formation	biological process	IEA	1
GO:0007165	signal transduction	biological process	TAS[7830769]	136
GO:0001941	postsynaptic membrane organization	biological process	IEA	2
GO:0001656	metanephros development	biological process	ISS	8
GO:0048485	sympathetic nervous system development	biological process	ISS	3
GO:0048484	enteric nervous system development	biological process	ISS	2
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[12358785]	91
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	biological process	IDA[10921886]	8
GO:0005576	extracellular region	cellular component	IDA[9811930]	97

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GDNF	GFRA2	NO	in vitro	9407096
GDNF	RET	NO	in vitro	8674117
GDNF	GFRA1	YES	in vitro;in vivo	8674117 , 9482105

Related other genetic factors

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs62360370	chr5:37814387 - 37814387(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs2075680	chr5:37840540 - 37840540(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs147083416	chr5:37813869 - 37813869(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs78613670	chr5:37814262 - 37814262(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs115322727	chr5:37813866 - 37813866(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs142426358	chr5:37814375 - 37814375(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs79669773	chr5:37814663 - 37814663(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 3)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
GDNF_Chr5:37812782_T/A	point mutation	3'UTR	1 (0/1/0)
GDNF_Chr5:37812784_T/A	point mutation	3'UTR	1 (0/1/0)
GDNF_Chr5:37814769_G/A	point mutation	3'UTR	1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5p13.3-q13.3	chr5:28900000-77600000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 4)

Reference	ID in SZGene	Result Category
17897812	331	Negative
15003293	331	Positive
17893707	331	Negative
11600185	331	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
18313696	Reduced expression levels of GDNF, ARTN, and NT-3 mRNAs were found in patients with major depressive disorder in a current depressive state	Pos	GDNF

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Region: chr5:37812677..37839686 View in gBrowse