Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	NRXN3
Previous Symbol	C14orf60
Symbol Alias	KIAA0743
Approved Name	neurexin 3
Previous Name	chromosome 14 open reading frame 60
Location	14q31
Position	chr14:78170373-79868290, 1
External Links	HGNC: 8010 Entrez Gene: 9369 Ensembl: ENSG00000021645 UCSC: uc001xun.4
No. of Studies	2 (Positive: 2; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kuo, P. H., 2014	SNP: rs2217887	Gene-based P-value (allelic model) =0.0071, P-value (additive model) =0.0095. NRXN3, which encodes receptors or ligands that regulate neuronal positioning, axon guidance, cell migration and adhesion (P= 0.0095)	Positive	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: 19)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005887	integral component of plasma membrane	cellular component	TAS[1621094]	158
GO:0007411	axon guidance	biological process	TAS[1621094]	60
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0004872	receptor activity	molecular function	TAS[1621094]	19
GO:0007268	synaptic transmission	biological process	IEA	116

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0001525	angiogenesis	biological process	ISS	20
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0097109	neuroligin family protein binding	molecular function	TAS[18923512]	3
GO:0050839	cell adhesion molecule binding	molecular function	TAS[18923512]	6
GO:0005246	calcium channel regulator activity	molecular function	IEA	8
GO:0007612	learning	biological process	IGI[22209245]	18
GO:0051965	positive regulation of synapse assembly	biological process	IEA	5
GO:0030534	adult behavior	biological process	IGI[22209245]	6
GO:0035176	social behavior	biological process	IGI[22209245]	17
GO:0007416	synapse assembly	biological process	IEA	8
GO:0090129	positive regulation of synapse maturation	biological process	IEA	3
GO:0071625	vocalization behavior	biological process	IGI[22209245]	5
GO:0007158	neuron cell-cell adhesion	biological process	TAS[18923512]	6
GO:0007269	neurotransmitter secretion	biological process	IEA	15

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: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NRXN3	MLLT4	NO	yeast 2-hybrid	9707552
NRXN3	NLGN3	NO	in vitro	8576240
NRXN3	CASK	NO	in vitro;yeast 2-hybrid	8786425

Related other genetic factors

Gene related SNPs (count: 17)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2217887	chr14:79417482 - 79417482(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 16)

rs_ID	Location	Functional Annotation
rs1993009	chr14:79381121 - 79381121(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12888940	chr14:79382162 - 79382162(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4603484	chr14:79389374 - 79389374(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs10450934	chr14:79382630 - 79382630(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1993011	chr14:79410540 - 79410540(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11159408	chr14:79408015 - 79408015(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs714276	chr14:79413330 - 79413330(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2574750	chr14:79412984 - 79412984(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1993012	chr14:79414618 - 79414618(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs954860	chr14:79413994 - 79413994(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2597091	chr14:79415568 - 79415568(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2597087	chr14:79414778 - 79414778(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2574751	chr14:79418437 - 79418437(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2196446	chr14:79416955 - 79416955(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2164434	chr14:79421026 - 79421026(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2597092	chr14:79420372 - 79420372(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_17	chr14:78385349-78459898 (NCBI Build 36/hg18)	74000	14q24.3â€“14q31.1	deletion

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
14q24.1-q32.12	chr14:67400000-94200000	1 (0/0/1)
Chr 14	chr14:0-107043718	2 (0/2/0)

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: 1)

Reference	ID in SZGene	Result Category
19658047	840	Negative

Gene relationship with MDD

View in gBrowse

Region: chr14:78170373..79868290 View in gBrowse