BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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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	RELN
Symbol Alias	RL, PRO1598
Approved Name	reelin
Location	7q22
Position	chr7:103471784-103989516, -1
External Links	HGNC: 9957 Entrez Gene: 5649 Ensembl: ENSG00000189056 UCSC: uc010liz.3
No. of Studies	3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Noor A., 2014		Selected stringent CNV related to this gene is not validated by qPCR from BD case data.	Negative	Comment on Study
Goes, F. S., 2010	SNP: rs17281921, rs2249372, rs362642, rs362719, rs362726, rs362814, rs7341475	rs362719 in this gene showed strong significance with BD, especially for females.	Positive	Comment on Study
Pisante, A.,2009	SNP: rs7341475	No association was found for BD (women or men).	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 50)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007155	cell adhesion	biological process	IEA	42
GO:0000904	cell morphogenesis involved in differentiation	biological process	ISS	1
GO:0007411	axon guidance	biological process	ISS	60
GO:0007420	brain development	biological process	ISS	25
GO:0007417	central nervous system development	biological process	ISS	21

GO terms by database search (count: 45)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:2000969	positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	biological process	ISS	1
GO:0001764	neuron migration	biological process	ISS	18
GO:0005578	proteinaceous extracellular matrix	cellular component	IEA	19
GO:0051057	positive regulation of small GTPase mediated signal transduction	biological process	ISS	1
GO:0021819	layer formation in cerebral cortex	biological process	IEA	3
GO:0070325	lipoprotein particle receptor binding	molecular function	ISS[10571240]	1
GO:0004712	protein serine/threonine/tyrosine kinase activity	molecular function	ISS	4
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	biological process	ISS[10571240]	12
GO:0005737	cytoplasm	cellular component	ISS	322
GO:0007616	long-term memory	biological process	IEA	9
GO:0038026	reelin-mediated signaling pathway	biological process	ISS[10571240]	2
GO:0097114	N-methyl-D-aspartate receptor clustering	biological process	IEA	3
GO:0010001	glial cell differentiation	biological process	ISS	2
GO:0021511	spinal cord patterning	biological process	ISS	1
GO:1900273	positive regulation of long-term synaptic potentiation	biological process	ISS	2
GO:0032008	positive regulation of TOR signaling	biological process	IEA	4
GO:0048265	response to pain	biological process	ISS	8
GO:0021766	hippocampus development	biological process	ISS	7
GO:0070326	very-low-density lipoprotein particle receptor binding	molecular function	ISS[10571240]	2
GO:0090129	positive regulation of synapse maturation	biological process	ISS	3
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	biological process	IEA	9
GO:0021800	cerebral cortex tangential migration	biological process	ISS	1
GO:0030425	dendrite	cellular component	ISS	65
GO:0050804	regulation of synaptic transmission	biological process	ISS	3
GO:2000463	positive regulation of excitatory postsynaptic membrane potential	biological process	ISS	6
GO:2000310	regulation of N-methyl-D-aspartate selective glutamate receptor activity	biological process	ISS	6
GO:0097120	receptor localization to synapse	biological process	IEA	5
GO:0097477	lateral motor column neuron migration	biological process	IEA	2
GO:0061003	positive regulation of dendritic spine morphogenesis	biological process	ISS	3
GO:0045860	positive regulation of protein kinase activity	biological process	ISS	8
GO:0008236	serine-type peptidase activity	molecular function	IEA	9
GO:0010976	positive regulation of neuron projection development	biological process	ISS	10
GO:0051968	positive regulation of synaptic transmission, glutamatergic	biological process	ISS	8
GO:0061098	positive regulation of protein tyrosine kinase activity	biological process	ISS	5
GO:0006508	proteolysis	biological process	IEA	34
GO:0005615	extracellular space	cellular component	ISS	85
GO:1902078	positive regulation of lateral motor column neuron migration	biological process	IEA	1
GO:0032793	positive regulation of CREB transcription factor activity	biological process	ISS	3
GO:0050795	regulation of behavior	biological process	ISS	4
GO:0008306	associative learning	biological process	IEA	8
GO:0018108	peptidyl-tyrosine phosphorylation	biological process	ISS	12
GO:0021517	ventral spinal cord development	biological process	IEA	3
GO:0097119	postsynaptic density protein 95 clustering	biological process	IEA	3
GO:0016358	dendrite development	biological process	IEA	8
GO:0046872	metal ion binding	molecular function	IEA	115

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04510	Focal adhesion	22
hsa04512	ECM-receptor interaction	9

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa01430	Cell Communication	11

Gene related BioCarta pathways (count: 2)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
reelinPathway	Reelin Signaling Pathway	4

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
Lis1Pathway	Lissencephaly gene (LIS1) in neuronal migration and development	3

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

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
RELN	PCDHA4	YES	in vitro;in vivo	10612399
RELN	VLDLR	NO	in vitro;in vivo	10571240 , 10571241
RELN	PCDHA6	YES	in vitro	10612399

Related other genetic factors

Gene related SNPs (count: 8)

Literature-origin SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs362642	chr7:103609424 - 103609424(1)	intron_variant	1(1/0/0)
rs362814	chr7:103574673 - 103574673(1)	intron_variant	1(1/0/0)
rs2249372	chr7:103597763 - 103597763(1)	intron_variant	1(1/0/0)
rs362719	chr7:103545430 - 103545430(1)	intron_variant	1(1/0/0)
rs362726	chr7:103566787 - 103566787(1)	intron_variant	1(1/0/0)
rs7341475	chr7:103764368 - 103764368(1)	intron_variant	2(0/2/0)
rs17281921	chr7:103465449 - 103465449(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs971846		chr7:103491048 - 103491048(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_27	chr7:102938672-102941273 (NCBI Build 36/hg18)	3000	7q22.1	deletion

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
7q21-31	chr7:77900000-127500000	1 (1/0/0)
7q22	chr7:98400000-107800000	1 (0/1/0)
Chr 7	chr7:0-159345973	3 (0/3/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
19436241	A significant effect was only seen in females.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 12)

Reference	ID in SZGene	Result Category
15965968	18	Negative
18282107	18	Positive
16364597	18	Negative
17684500	18	Positive
20468075	18	Positive
18384059	18	Positive
16556465	18	Negative
20431428	18	Positive
12082559	18	Negative
19922905	18	Positive
12363388	18	Negative
20434133	18	Negative

Gene relationship with MDD

View in gBrowse

Region: chr7:103471784..103989516 View in gBrowse