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

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