NRXN1 (Entrez ID: 9378)

Entrez Gene ID	9378
Official Gene Symbol	NRXN1 (GeneCards)
Full name	neurexin 1
Location	2p16.3
Other ids	Vega : OTTHUMG00000129263 MIM : 600565 HGNC : HGNC:8008 Ensembl : ENSG00000179915
Other names	PTHSL2, SCZD17, Hs.22998
Summary	This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]

Variants

Found 48 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
2882	9378	NRXN1	2	50261165	50261165	Asymptomatic	HiSeq X Ten
2904	9378	NRXN1	2	52905465	52905465	Asymptomatic	HiSeq X Ten
2914	9378	NRXN1	2	50613306	50613306	Asymptomatic	HiSeq X Ten
2919	9378	NRXN1	2	50614102	50614102	Asymptomatic	HiSeq X Ten
2940	9378	NRXN1	2	52142271	52142271	Asymptomatic	HiSeq X Ten
3010	9378	NRXN1	2	51046877	51046877	Asymptomatic	HiSeq X Ten HiSeq 2000
3068	9378	NRXN1	2	50782342	50782342	Asymptomatic	HiSeq X Ten HiSeq 2000
3115	9378	NRXN1	2	52456537	52456537	Asymptomatic	HiSeq X Ten HiSeq 2000
3127	9378	NRXN1	2	52310114	52310114	Asymptomatic	HiSeq X Ten HiSeq 2000
3202	9378	NRXN1	2	51962183	51962183	Asymptomatic	HiSeq X Ten HiSeq 2000
3216	9378	NRXN1	2	52131122	52131122	Asymptomatic	HiSeq X Ten HiSeq 2000
3287	9378	NRXN1	2	52795660	52795660	Asymptomatic	HiSeq X Ten HiSeq 2000
3298	9378	NRXN1	2	51841901	51841901	Asymptomatic	HiSeq X Ten HiSeq 2000
3459	9378	NRXN1	2	51038907	51038907	Asymptomatic	HiSeq X Ten HiSeq 2000
3543	9378	NRXN1	2	50921249	50921249		HiSeq X Ten HiSeq 2000
3558	9378	NRXN1	2	50237717	50237717		HiSeq X Ten HiSeq 2000
3593	9378	NRXN1	2	50425704	50425704		HiSeq X Ten HiSeq 2000
3594	9378	NRXN1	2	52841532	52841532		HiSeq X Ten HiSeq 2000
3621	9378	NRXN1	2	51397517	51397517		HiSeq X Ten HiSeq 2000
3643	9378	NRXN1	2	50450432	50450432	Asymptomatic	HiSeq X Ten HiSeq 2000
3722	9378	NRXN1	2	50861984	50861984	Asymptomatic	HiSeq X Ten HiSeq 2000
3723	9378	NRXN1	2	52757463	52757463	Asymptomatic	HiSeq X Ten HiSeq 2000
3750	9378	NRXN1	2	50754611	50754611	Asymptomatic	HiSeq X Ten HiSeq 2000
3751	9378	NRXN1	2	50954325	50954325	Asymptomatic	HiSeq X Ten HiSeq 2000
3794	9378	NRXN1	2	50367326	50367326	Asymptomatic	HiSeq X Ten HiSeq 2000
3835	9378	NRXN1	2	51493333	51493333	Asymptomatic	HiSeq X Ten HiSeq 2000
3897	9378	NRXN1	2	50540518	50540518	Asymptomatic	HiSeq X Ten HiSeq 2000
3904	9378	NRXN1	2	50289370	50289370	Asymptomatic	HiSeq X Ten HiSeq 2000
3935	9378	NRXN1	2	52687093	52687093	Asymptomatic	HiSeq X Ten HiSeq 2000
3955	9378	NRXN1	2	51669806	51669806	Asymptomatic	HiSeq X Ten HiSeq 2000
3956	9378	NRXN1	2	51856390	51856390	Asymptomatic	HiSeq X Ten HiSeq 2000
4023	9378	NRXN1	2	51355969	51355969	Asymptomatic	HiSeq X Ten HiSeq 2000
4148	9378	NRXN1	2	50530745	50530745	Asymptomatic	HiSeq X Ten HiSeq 2000
4149	9378	NRXN1	2	50826686	50826686	Asymptomatic	HiSeq X Ten HiSeq 2000
4150	9378	NRXN1	2	51266200	51266200	Asymptomatic	HiSeq X Ten HiSeq 2000
4186	9378	NRXN1	2	52343940	52343940	Asymptomatic	HiSeq X Ten HiSeq 2000
4255	9378	NRXN1	2	50231439	50231439	Cockayne syndrome	HiSeq X Ten HiSeq 2000
4412	9378	NRXN1	2	51665341	51665341	Cockayne syndrome	HiSeq X Ten HiSeq 2000
4420	9378	NRXN1	2	52278801	52278801	Cockayne syndrome	HiSeq X Ten HiSeq 2000
4434	9378	NRXN1	2	50230353	50230353	Cockayne syndrome	HiSeq X Ten HiSeq 2000
4548	9378	NRXN1	2	50717364	50717364	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
4560	9378	NRXN1	2	51508346	51508346	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
24659	9378	NRXN1	2	51148078	51148078	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
24710	9378	NRXN1	2	51155017	51155017	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
24732	9378	NRXN1	2	51268058	51268058	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
24905	9378	NRXN1	2	50419311	50419311	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
24986	9378	NRXN1	2	52776804	52776804	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25015	9378	NRXN1	2	50186213	50186213	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning