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	NRXN1
Symbol Alias	KIAA0578, Hs.22998
Approved Name	neurexin 1
Location	2p16.3
Position	chr2:49918505-51225575, -1
External Links	HGNC: 8008 Entrez Gene: 9378 Ensembl: ENSG00000179915 UCSC: uc032nmr.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Noor A., 2014		Interestingly, in four unrelated BD cases, we identified CNVs involving members of the neurexin family of genes, including a loss and a gain - both exonic - at NRXN1 (also see de novo loss at NRXN1 in another BD subject, below), an intronic deletion in NRXN3 and a partial duplication (exonic) of NRXN2.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 59)

GO terms by PBA (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007411	axon guidance	biological process	TAS[1621094]	60
GO:0007268	synaptic transmission	biological process	ISS	116
GO:0005887	integral component of plasma membrane	cellular component	TAS[1621094]	158
GO:0005886	plasma membrane	cellular component	IC[21424692]; ISS	360
GO:0005509	calcium ion binding	molecular function	ISS	50
GO:0004872	receptor activity	molecular function	TAS[1621094]	19
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0005102	receptor binding	molecular function	ISS	37

GO terms by database search (count: 51)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0097109	neuroligin family protein binding	molecular function	ISS	3
GO:0035176	social behavior	biological process	IMP[17034946]	17
GO:0090129	positive regulation of synapse maturation	biological process	ISS	3
GO:0007416	synapse assembly	biological process	ISS	8
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	biological process	IEA	5
GO:0001525	angiogenesis	biological process	ISS	20
GO:0005246	calcium channel regulator activity	molecular function	ISS	8
GO:0016339	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	biological process	ISS	2
GO:0097118	neuroligin clustering	biological process	ISS	2
GO:0035418	protein localization to synapse	biological process	ISS	1
GO:0033130	acetylcholine receptor binding	molecular function	ISS	1
GO:0007158	neuron cell-cell adhesion	biological process	ISS; TAS[15797875]	6
GO:0042297	vocal learning	biological process	IMP[19896112]	3
GO:0023041	neuronal signal transduction	biological process	TAS[15797875]	1
GO:0097091	synaptic vesicle clustering	biological process	ISS	1
GO:0045184	establishment of protein localization	biological process	ISS	3
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0071625	vocalization behavior	biological process	IMP[17034946]	5
GO:0030198	extracellular matrix organization	biological process	TAS	26
GO:0050885	neuromuscular process controlling balance	biological process	IMP[19896112]; ISS[19822762]	6
GO:0090004	positive regulation of establishment of protein localization to plasma membrane	biological process	ISS	6
GO:0005515	protein binding	molecular function	IPI[11152476]	563
GO:2000463	positive regulation of excitatory postsynaptic membrane potential	biological process	ISS	6
GO:0097117	guanylate kinase-associated protein clustering	biological process	ISS	1
GO:0021707	cerebellar granule cell differentiation	biological process	ISS	2
GO:0009986	cell surface	cellular component	IDA[21424692]; ISS	40
GO:0007269	neurotransmitter secretion	biological process	ISS	15
GO:0097112	gamma-aminobutyric acid receptor clustering	biological process	ISS	1
GO:0048306	calcium-dependent protein binding	molecular function	ISS	7
GO:2000311	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	biological process	ISS	4
GO:0097105	presynaptic membrane assembly	biological process	ISS	2
GO:0051490	negative regulation of filopodium assembly	biological process	ISS	1
GO:0030054	cell junction	cellular component	IEA	88
GO:0050839	cell adhesion molecule binding	molecular function	ISS	6
GO:0097120	receptor localization to synapse	biological process	ISS	5
GO:0051965	positive regulation of synapse assembly	biological process	ISS	5
GO:0044295	axonal growth cone	cellular component	ISS	2
GO:0030139	endocytic vesicle	cellular component	ISS	8
GO:2000310	regulation of N-methyl-D-aspartate selective glutamate receptor activity	biological process	ISS	6
GO:2000821	regulation of grooming behavior	biological process	IEA	1
GO:0097116	gephyrin clustering	biological process	ISS	2
GO:0097104	postsynaptic membrane assembly	biological process	ISS	2
GO:0097119	postsynaptic density protein 95 clustering	biological process	ISS	3
GO:0030534	adult behavior	biological process	IMP[17034946]	6
GO:0090126	protein complex assembly involved in synapse maturation	biological process	ISS	1
GO:0051968	positive regulation of synaptic transmission, glutamatergic	biological process	ISS	8
GO:0097114	N-methyl-D-aspartate receptor clustering	biological process	ISS	3
GO:0042734	presynaptic membrane	cellular component	ISS; TAS[15797875]	16
GO:0060134	prepulse inhibition	biological process	IEA	8
GO:0007612	learning	biological process	IMP[17034946]	18
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	biological process	ISS	4

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04514	Cell adhesion molecules (CAMs)	14

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 26)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NRXN1	CASK	NO	in vitro;yeast 2-hybrid	8786425 , 11036064
NRXN1	NXPH1	NO	in vitro;in vivo	8699246 , 9856994
NRXN1	SYT9	NO	in vitro	8901523
NRXN1	SYT6	NO	in vitro	8901523
NRXN1	SYT2	NO	in vitro	8901523
NRXN1	SYT1	NO	in vitro	11243866 , 8901523
NRXN1	NLGN1	NO	in vitro	8576240 , 14522992
NRXN1	SYT4	NO	in vitro	8901523
NRXN1	NLGN2	NO	in vivo	8576240
NRXN1	NLGN3	NO	in vitro;in vivo	8576240 , 9325340
NRXN1	SYTL2	NO	in vitro	11243866
NRXN1	SYT13	NO	in vitro	11171101
NRXN1	SYT5	NO	in vitro	8901523
NRXN1	SDCBP2	NO	yeast 2-hybrid	11152476
NRXN1	SYTL1	NO	in vitro	11243866
NRXN1	SIPA1L1	NO	yeast 2-hybrid	12421765
NRXN1	MYO16	NO	yeast 2-hybrid	12421765
NRXN1	SYTL3	NO	in vitro	11243866
NRXN1	NXPH3	NO	in vitro;in vivo	9856994
NRXN1	APBA2	NO	in vitro	11036064
NRXN1	RPH3A	NO	in vitro	8901523
NRXN1	APBA1	NO	in vitro	11036064
NRXN1	NXPH2	NO	in vitro	8699246
NRXN1	PDZD2	NO	yeast 2-hybrid	12421765
NRXN1	MACF1	NO	yeast 2-hybrid	12421765
NRXN1	SYT7	NO	in vitro	8901523

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 4)

ID	Location	Size	Band	Type
CNV_Zhang[2009]_34	chr2:51052476-51182653 (Affymetrix SNP 6.0 array reference genome)	130177		Singleton deletions
CNV_Abdul Noor[2014]_24	chr2:50735657-50800548 (NCBI Build 36/hg18)	64000	2p16.3	deletion
CNV_Zhang[2009]_29	chr2:50830356-50939853 (Affymetrix SNP 6.0 array reference genome)	109497		Singleton deletions
CNV_Zhang[2009]_49	chr2:51223965-51364053 (Affymetrix SNP 6.0 array reference genome)	140088		Singleton deletions

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2p13-16	chr2:47500000-71300000	1 (0/0/1)
2p16	chr2:47500000-61000000	1 (0/1/0)
Chr 2	chr2:0-242193529	3 (0/3/0)
2p22.2-p13.3	chr2:36300000-71300000	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: 2)

Reference	ID in SZGene	Result Category
20347009	839	Trend
19658047	839	Negative

Gene relationship with MDD

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Region: chr2:49918505..51225575 View in gBrowse