Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9378
Gene name	Neurexin 1
Gene symbol	NRXN1
Synonyms (NCBI Gene)	Hs.22998PTHSL2SCZD17
Chromosome	2
Chromosome location	2p16.3
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs55640811	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs55923848	T>C	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs56086732	G>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs56402642	G>A	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs75275592	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs80293130	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, genic downstream transcript variant
rs143446587	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs143495349	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs147580960	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs192909520	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs199546979	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs199557987	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs199645252	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs199714221	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs199784029	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant
rs200113281	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs200182626	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs200672080	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs200698497	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs200935246	C>A,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs201029409	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs201118246	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs201212909	C>A,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs201481698	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs201485014	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs201727684	A>G	Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs201818223	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs201837579	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs201941844	T>C	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs202043138	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs267606922	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs563089155	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs587780407	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs587781101	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs750165040	GCCGCCGCCGCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, inframe insertion, inframe deletion, intron variant
rs767682431	G>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs771759988	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, splice acceptor variant
rs796052787	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs886042465	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs886042846	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1002820022	G>A,T	Likely-pathogenic	Intron variant, stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs1057520406	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant
rs1057521798	A>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1064795493	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1201575289	G>A	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, intron variant
rs1476850082	A>G	Likely-pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs1553368900	CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATC	Likely-pathogenic	Splice acceptor variant, splice donor variant, genic upstream transcript variant, intron variant, coding sequence variant
rs1553400438	GTCAATGTCCTCATCA>TTAGGGACAC	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, inframe indel
rs1553535216	->A	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553759318	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1558507406	->CCGT	Risk-factor	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558925686	AAGAT>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1573424393	T>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1573629114	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1574949440	C>A	Pathogenic	Splice acceptor variant, intron variant, genic upstream transcript variant
rs1575270894	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs1575277408	->ACCG	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051233	hsa-miR-16-5p	CLASH	23622248
MIRT048156	hsa-miR-196a-5p	CLASH	23622248
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT687408	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT667163	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT667170	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT667169	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT667168	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT667167	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT667166	hsa-miR-8056	HITS-CLIP	23824327
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT667164	hsa-miR-4752	HITS-CLIP	23824327
MIRT667163	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623064	hsa-miR-548ac	HITS-CLIP	23824327
MIRT623063	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT623062	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT623061	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT623060	hsa-miR-548z	HITS-CLIP	23824327
MIRT623059	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623058	hsa-miR-3607-3p	HITS-CLIP	23824327
MIRT623057	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT623056	hsa-miR-1537-5p	HITS-CLIP	23824327
MIRT623055	hsa-miR-498	HITS-CLIP	23824327
MIRT623054	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT667167	hsa-miR-3691-5p	HITS-CLIP	27418678
MIRT667167	hsa-miR-3691-5p	HITS-CLIP	27418678
MIRT667167	hsa-miR-3691-5p	HITS-CLIP	27418678
MIRT667169	hsa-miR-376b-5p	HITS-CLIP	27418678
MIRT667169	hsa-miR-376b-5p	HITS-CLIP	27418678
MIRT667169	hsa-miR-376b-5p	HITS-CLIP	27418678
MIRT667168	hsa-miR-376c-5p	HITS-CLIP	27418678
MIRT667168	hsa-miR-376c-5p	HITS-CLIP	27418678
MIRT667168	hsa-miR-376c-5p	HITS-CLIP	27418678
MIRT667164	hsa-miR-4752	HITS-CLIP	27418678
MIRT667164	hsa-miR-4752	HITS-CLIP	27418678
MIRT667164	hsa-miR-4752	HITS-CLIP	27418678
MIRT667163	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT667163	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT667163	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT667163	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT667163	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT687408	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT667166	hsa-miR-8056	HITS-CLIP	27418678
MIRT667166	hsa-miR-8056	HITS-CLIP	27418678
MIRT667166	hsa-miR-8056	HITS-CLIP	27418678
MIRT667166	hsa-miR-8056	HITS-CLIP	27418678
MIRT667166	hsa-miR-8056	HITS-CLIP	27418678
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT687408	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT667163	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT667170	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT667169	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT667168	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT667167	hsa-miR-3691-5p	HITS-CLIP	23824327
MIRT667166	hsa-miR-8056	HITS-CLIP	23824327
MIRT667165	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT667164	hsa-miR-4752	HITS-CLIP	23824327
MIRT667163	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623064	hsa-miR-548ac	HITS-CLIP	23824327
MIRT623063	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT623062	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT623061	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT623060	hsa-miR-548z	HITS-CLIP	23824327
MIRT623059	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623058	hsa-miR-3607-3p	HITS-CLIP	23824327
MIRT623057	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT623056	hsa-miR-1537-5p	HITS-CLIP	23824327
MIRT623055	hsa-miR-498	HITS-CLIP	23824327
MIRT623054	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT1194513	hsa-miR-1	CLIP-seq
MIRT1194514	hsa-miR-1257	CLIP-seq
MIRT1194515	hsa-miR-1264	CLIP-seq
MIRT1194516	hsa-miR-128	CLIP-seq
MIRT1194517	hsa-miR-1284	CLIP-seq
MIRT1194518	hsa-miR-129-5p	CLIP-seq
MIRT1194519	hsa-miR-198	CLIP-seq
MIRT1194520	hsa-miR-206	CLIP-seq
MIRT1194521	hsa-miR-27a	CLIP-seq
MIRT1194522	hsa-miR-27b	CLIP-seq
MIRT1194523	hsa-miR-297	CLIP-seq
MIRT1194524	hsa-miR-299-3p	CLIP-seq
MIRT1194525	hsa-miR-300	CLIP-seq
MIRT1194526	hsa-miR-3121-5p	CLIP-seq
MIRT1194527	hsa-miR-3124-3p	CLIP-seq
MIRT1194528	hsa-miR-3152-5p	CLIP-seq
MIRT1194529	hsa-miR-320a	CLIP-seq
MIRT1194530	hsa-miR-320b	CLIP-seq
MIRT1194531	hsa-miR-320c	CLIP-seq
MIRT1194532	hsa-miR-320d	CLIP-seq
MIRT1194533	hsa-miR-33a	CLIP-seq
MIRT1194534	hsa-miR-33b	CLIP-seq
MIRT1194535	hsa-miR-3606	CLIP-seq
MIRT1194536	hsa-miR-3613-3p	CLIP-seq
MIRT1194537	hsa-miR-3685	CLIP-seq
MIRT1194538	hsa-miR-381	CLIP-seq
MIRT1194539	hsa-miR-3920	CLIP-seq
MIRT1194540	hsa-miR-4326	CLIP-seq
MIRT1194541	hsa-miR-4429	CLIP-seq
MIRT1194542	hsa-miR-4438	CLIP-seq
MIRT1194543	hsa-miR-4491	CLIP-seq
MIRT1194544	hsa-miR-450b-5p	CLIP-seq
MIRT1194545	hsa-miR-455-3p	CLIP-seq
MIRT1194546	hsa-miR-4648	CLIP-seq
MIRT1194547	hsa-miR-4654	CLIP-seq
MIRT1194548	hsa-miR-4657	CLIP-seq
MIRT1194549	hsa-miR-4666-3p	CLIP-seq
MIRT1194550	hsa-miR-4731-3p	CLIP-seq
MIRT1194551	hsa-miR-4769-5p	CLIP-seq
MIRT1194552	hsa-miR-4774-3p	CLIP-seq
MIRT1194553	hsa-miR-4801	CLIP-seq
MIRT1194554	hsa-miR-495	CLIP-seq
MIRT1194555	hsa-miR-507	CLIP-seq
MIRT1194556	hsa-miR-557	CLIP-seq
MIRT1194557	hsa-miR-567	CLIP-seq
MIRT1194558	hsa-miR-613	CLIP-seq
MIRT1194559	hsa-miR-628-5p	CLIP-seq
MIRT1194560	hsa-miR-3919	CLIP-seq
MIRT1194561	hsa-miR-4756-3p	CLIP-seq
MIRT1194562	hsa-miR-103a	CLIP-seq
MIRT1194563	hsa-miR-107	CLIP-seq
MIRT1194516	hsa-miR-128	CLIP-seq
MIRT1194564	hsa-miR-1301	CLIP-seq
MIRT1194565	hsa-miR-181a	CLIP-seq
MIRT1194566	hsa-miR-181b	CLIP-seq
MIRT1194567	hsa-miR-181c	CLIP-seq
MIRT1194568	hsa-miR-181d	CLIP-seq
MIRT1194569	hsa-miR-18a	CLIP-seq
MIRT1194570	hsa-miR-18b	CLIP-seq
MIRT1194519	hsa-miR-198	CLIP-seq
MIRT1194521	hsa-miR-27a	CLIP-seq
MIRT1194522	hsa-miR-27b	CLIP-seq
MIRT1194571	hsa-miR-3149	CLIP-seq
MIRT1194572	hsa-miR-4262	CLIP-seq
MIRT1194573	hsa-miR-4424	CLIP-seq
MIRT1194545	hsa-miR-455-3p	CLIP-seq
MIRT1194574	hsa-miR-4735-3p	CLIP-seq
MIRT1194575	hsa-miR-5047	CLIP-seq
MIRT1194576	hsa-miR-562	CLIP-seq
MIRT1194577	hsa-miR-568	CLIP-seq
MIRT1194578	hsa-miR-627	CLIP-seq
MIRT1194579	hsa-miR-924	CLIP-seq
MIRT1194562	hsa-miR-103a	CLIP-seq
MIRT1194563	hsa-miR-107	CLIP-seq
MIRT2284987	hsa-miR-1224-5p	CLIP-seq
MIRT1194518	hsa-miR-129-5p	CLIP-seq
MIRT1194564	hsa-miR-1301	CLIP-seq
MIRT1194569	hsa-miR-18a	CLIP-seq
MIRT1194570	hsa-miR-18b	CLIP-seq
MIRT1194526	hsa-miR-3121-5p	CLIP-seq
MIRT1194528	hsa-miR-3152-5p	CLIP-seq
MIRT2284988	hsa-miR-3154	CLIP-seq
MIRT2284989	hsa-miR-330-3p	CLIP-seq
MIRT1194533	hsa-miR-33a	CLIP-seq
MIRT1194534	hsa-miR-33b	CLIP-seq
MIRT2284990	hsa-miR-377	CLIP-seq
MIRT2284991	hsa-miR-3915	CLIP-seq
MIRT1194539	hsa-miR-3920	CLIP-seq
MIRT1194573	hsa-miR-4424	CLIP-seq
MIRT1194544	hsa-miR-450b-5p	CLIP-seq
MIRT2284992	hsa-miR-4689	CLIP-seq
MIRT2284993	hsa-miR-4705	CLIP-seq
MIRT1194574	hsa-miR-4735-3p	CLIP-seq
MIRT1194552	hsa-miR-4774-3p	CLIP-seq
MIRT1194575	hsa-miR-5047	CLIP-seq
MIRT1194555	hsa-miR-507	CLIP-seq
MIRT1194556	hsa-miR-557	CLIP-seq
MIRT2284994	hsa-miR-587	CLIP-seq
MIRT1194559	hsa-miR-628-5p	CLIP-seq
MIRT2391762	hsa-miR-1297	CLIP-seq
MIRT2391763	hsa-miR-26a	CLIP-seq
MIRT2391764	hsa-miR-26b	CLIP-seq
MIRT2391765	hsa-miR-4465	CLIP-seq

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Transcription factor	Regulation	Reference
TCF4	Activation	22777675

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	ISS
GO:0005102	Function	Signaling receptor binding	ISS
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IDA	22750515
GO:0005246	Function	Calcium channel regulator activity	ISS
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	11152476, 18084303, 27418511, 30262834
GO:0005730	Component	Nucleolus	IDA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005886	Component	Plasma membrane	IC	21424692
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	1621094
GO:0007155	Process	Cell adhesion	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007158	Process	Neuron cell-cell adhesion	IEA
GO:0007158	Process	Neuron cell-cell adhesion	ISS
GO:0007158	Process	Neuron cell-cell adhesion	NAS	16242404
GO:0007158	Process	Neuron cell-cell adhesion	TAS	15797875, 18923512
GO:0007165	Process	Signal transduction	ISS
GO:0007268	Process	Chemical synaptic transmission	ISS
GO:0007269	Process	Neurotransmitter secretion	ISS
GO:0007411	Process	Axon guidance	TAS	1621094
GO:0007416	Process	Synapse assembly	ISS
GO:0007612	Process	Learning	IMP	17034946, 19896112
GO:0009986	Component	Cell surface	IDA	21424692
GO:0009986	Component	Cell surface	ISS
GO:0010628	Process	Positive regulation of gene expression	IDA	26078884
GO:0010629	Process	Negative regulation of gene expression	IDA	26078884
GO:0016020	Component	Membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	18084303
GO:0021707	Process	Cerebellar granule cell differentiation	ISS
GO:0023041	Process	Neuronal signal transduction	TAS	15797875
GO:0030139	Component	Endocytic vesicle	ISS
GO:0030534	Process	Adult behavior	IEA
GO:0030534	Process	Adult behavior	IMP	17034946, 19896112
GO:0031175	Process	Neuron projection development	IGI	22750515
GO:0031594	Component	Neuromuscular junction	NAS	28194405
GO:0031965	Component	Nuclear membrane	ISS
GO:0031982	Component	Vesicle	ISS
GO:0032230	Process	Positive regulation of synaptic transmission, GABAergic	NAS	16846852
GO:0033130	Function	Acetylcholine receptor binding	ISS
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	IMP	17034946, 18057082, 19896112
GO:0035418	Process	Protein localization to synapse	ISS
GO:0038023	Function	Signaling receptor activity	TAS	1621094
GO:0042297	Process	Vocal learning	IEA
GO:0042297	Process	Vocal learning	IMP	19896112
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042734	Component	Presynaptic membrane	TAS	15797875
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043950	Process	Positive regulation of cAMP-mediated signaling	IDA	26078884
GO:0044295	Component	Axonal growth cone	ISS
GO:0045184	Process	Establishment of protein localization	ISS
GO:0045202	Component	Synapse	IEA
GO:0045743	Process	Positive regulation of fibroblast growth factor receptor signaling pathway	IDA	22750515
GO:0046872	Function	Metal ion binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	ISS
GO:0048812	Process	Neuron projection morphogenesis	NAS	29504935
GO:0050839	Function	Cell adhesion molecule binding	ISS
GO:0050885	Process	Neuromuscular process controlling balance	IMP	19896112
GO:0050885	Process	Neuromuscular process controlling balance	ISS	19822762
GO:0051490	Process	Negative regulation of filopodium assembly	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	26078884
GO:0051965	Process	Positive regulation of synapse assembly	ISS
GO:0051965	Process	Positive regulation of synapse assembly	TAS	15797875
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS	19822762
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	NAS	16846852
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	26078884
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071625	Process	Vocalization behavior	IEA
GO:0071625	Process	Vocalization behavior	IMP	17034946, 18057082, 19896112
GO:0090126	Process	Protein-containing complex assembly involved in synapse maturation	ISS
GO:0090129	Process	Positive regulation of synapse maturation	ISS
GO:0097091	Process	Synaptic vesicle clustering	ISS
GO:0097104	Process	Postsynaptic membrane assembly	ISS
GO:0097105	Process	Presynaptic membrane assembly	ISS
GO:0097109	Function	Neuroligin family protein binding	ISS
GO:0097109	Function	Neuroligin family protein binding	NAS	14522992
GO:0097112	Process	Gamma-aminobutyric acid receptor clustering	ISS
GO:0097114	Process	NMDA glutamate receptor clustering	ISS
GO:0097116	Process	Gephyrin clustering involved in postsynaptic density assembly	ISS
GO:0097117	Process	Guanylate kinase-associated protein clustering	ISS
GO:0097118	Process	Neuroligin clustering involved in postsynaptic membrane assembly	ISS
GO:0097119	Process	Postsynaptic density protein 95 clustering	ISS
GO:0097120	Process	Receptor localization to synapse	ISS
GO:0098635	Component	Protein complex involved in cell-cell adhesion	ISO
GO:0098635	Component	Protein complex involved in cell-cell adhesion	NAS	18084303
GO:0098793	Component	Presynapse	NAS	14522992
GO:0098820	Component	Trans-synaptic protein complex	IDA	27418511
GO:0098820	Component	Trans-synaptic protein complex	ISS
GO:0098978	Component	Glutamatergic synapse	NAS	16846852
GO:0098982	Component	GABA-ergic synapse	NAS	16846852
GO:0098989	Process	NMDA selective glutamate receptor signaling pathway	ISS
GO:0098990	Process	AMPA selective glutamate receptor signaling pathway	ISS
GO:1900075	Process	Positive regulation of neuromuscular synaptic transmission	NAS	28194405
GO:1900738	Process	Positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	26078884
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	ISS
GO:1905520	Process	Positive regulation of presynaptic active zone assembly	TAS	15797875
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS	19822762

MIM	HGNC	e!Ensembl
600565	8008	ENSG00000179915

P58400

Protein name

Neurexin-1-beta (Neurexin I-beta)

Protein function

Neuronal cell surface protein involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins (By similarity). Plays a role in formation of synaptic junctions (By similarity). Functions as part of

PDB

3B3Q , 5Z8Y

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02210	Laminin_G_2	121 → 270	Laminin G domain	Domain
PF01034	Syndecan	388 → 452	Syndecan domain	Family

Sequence

MYQRMLRCGAELGSPGGGGGGGGGGGAGGRLALLWIVPLTLSGLLGVAWGASSLGAHHIH
HFHGSSKHHSVPIAIYRSPASLRGGHAGTTYIFSKGGGQITYKWPPNDRPSTRADRLAIG
FSTVQKEAVLVRVDSSSGLGDYLELHIHQGKIGVKFNVGTDDIAIEESNAIINDGKYHVV
RFTRSGGNATLQVDSWPVIERYPAGNNDNERLAIARQRIPYRLGRVVDEWLLDKGRQLTI
FNSQATIIIGGKEQGQPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMT
TESTATAMQSEMSTSIMETTTTLATSTARRGKPPTKEPISQTTDDILVASAECPSDDEDI
DPCEPSSGGLANPTRAGGREPYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKY
RNRDEGSYHVDESRNYISNSAQSNGAVVKEKQPSSAKSSNKNKKNKDKEYYV

Sequence length

472

Q9ULB1

Protein name

Neurexin-1 (Neurexin I-alpha) (Neurexin-1-alpha)

Protein function

Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an

PDB

6NID

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02210	Laminin_G_2	58 → 192	Laminin G domain	Domain
PF02210	Laminin_G_2	312 → 446	Laminin G domain	Domain
PF02210	Laminin_G_2	508 → 652	Laminin G domain	Domain
PF00008	EGF	680 → 711	EGF-like domain	Domain
PF02210	Laminin_G_2	746 → 877	Laminin G domain	Domain
PF02210	Laminin_G_2	933 → 1061	Laminin G domain	Domain
PF02210	Laminin_G_2	1156 → 1275	Laminin G domain	Domain
PF01034	Syndecan	1393 → 1453	Syndecan domain	Family

Tissue specificity

TISSUE SPECIFICITY: Brain. {ECO:0000269|PubMed:9628581}.

Sequence

MGTALLQRGGCFLLCLSLLLLGCWAELGSGLEFPGAEGQWTRFPKWNACCESEMSFQLKT
RSARGLVLYFDDEGFCDFLELILTRGGRLQLSFSIFCAEPATLLADTPVNDGAWHSVRIR
RQFRNTTLFIDQVEAKWVEVKSKRRDMTVFSGLFVGGLPPELRAAALKLTLASVREREPF
KGWIRDVRVNSSQVLPVDSGEVKLDDEPPNSGGGSPCEAGEEGEGGVCLNGGVCSVVDDQ
AVCDCSRTGFRGKDCSQEDNNVEGLAHLMMGDQGKSKGKEEYIATFKGSEYFCYDLSQNP
IQSSSDEITLSFKTLQRNGLMLHTGKSADYVNLALKNGAVSLVINLGSGAFEALVEPVNG
KFNDNAWHDVKVTRNLRQHSGIGHAMVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSP
STADLPGSPVSNNFMGCLKEVVYKNNDVRLELSRLAKQGDPKMKIHGVVAFKCENVATLD
PITFETPESFISLPKWNAKKTGSISFDFRTTEPNGLILFSHGKPRHQKDAKHPQMIKVDF
FAIEMLDGHLYLLLDMGSGTIKIKALLKKVNDGEWYHVDFQRDGRSGTISVNTLRTPYTA
PGESEILDLDDELYLGGLPENKAGLVFPTEVWTALLNYGYVGCIRDLFIDGQSKDIRQMA
EVQSTAGVKPSCSKETAKPCLSNPCKNNGMCRDGWNRYVCDCSGTGYLGRSCEREATVLS
YDGSMFMKIQLPVVMHTEAEDVSLRFRSQRAYGILMATTSRDSADTLRLELDAGRVKLTV
NLDCIRINCNSSKGPETLFAGYNLNDNEWHTVRVVRRGKSLKLTVDDQQAMTGQMAGDHT
RLEFHNIETGIITERRYLSSVPSNFIGHLQSLTFNGMAYIDLCKNGDIDYCELNARFGFR
NIIADPVTFKTKSSYVALATLQAYTSMHLFFQFKTTSLDGLILYNSGDGNDFIVVELVKG
YLHYVFDLGNGANLIKGSSNKPLNDNQWHNVMISRDTSNLHTVKIDTKITTQITAGARNL
DLKSDLYIGGVAKETYKSLPKLVHAKEGFQGCLASVDLNGRLPDLISDALFCNGQIERGC
EGPSTTCQEDSCSNQGVCLQQWDGFSCDCSMTSFSGPLCNDPGTTYIFSKGGGQITYKWP
PNDRPSTRADRLAIGFSTVQKEAVLVRVDSSSGLGDYLELHIHQGKIGVKFNVGTDDIAI
EESNAIINDGKYHVVRFTRSGGNATLQVDSWPVIERYPAGRQLTIFNSQATIIIGGKEQG
QPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMTTESTATAMQSEMSTS
IMETTTTLATSTARRGKPPTKEPISQTTDDILVASAECPSDDEDIDPCEPSSGGLANPTR
AGGREPYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYHVDESRN
YISNSAQSNGAVVKEKQPSSAKSSNKNKKNKDKEYYV

Sequence length

1477

Interactions

View interactions

	KEGG		Reactome
	Cell adhesion molecules		Neurexins and neuroligins

1860

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs1282230077, rs2466868754, rs774889610	RCV003322895 RCV003128042 RCV003128043
Intellectual disability	Pathogenic	rs1574949440	RCV000790431
Pitt-Hopkins-like syndrome 2	Likely pathogenic; Pathogenic	rs1558610072, rs1282230077, rs1359376928, rs2152697284, rs2152627014, rs2152626377, rs1285800435, rs2105317922, rs1388095672, rs756908062, rs2105207249, rs2105344238, rs1242147886, rs2466813017, rs2466834908 View all (25 more)	RCV001352900 RCV003619744 RCV001784758 RCV001782540 RCV001782541 RCV001892671 RCV001893838 RCV001917578 RCV002007233 RCV002035281 RCV002000012 RCV002044353 RCV003093011 RCV002796160 RCV002866521 RCV003065825 RCV003052079 RCV000009608 RCV003131089 RCV003404845 RCV003479895 RCV003510692 RCV003510081 RCV003510211 RCV003510952 RCV003620756 RCV003620885 RCV003621149 RCV003621368 RCV003621194 RCV003621270 RCV003621428 RCV003871821 RCV004527035 RCV001857997 RCV000818853 RCV001862752 RCV001069413 RCV001066155 RCV001218116 RCV001245999

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs200792504	RCV005888428
Cervical cancer	Benign	rs6704933	RCV005902158
Chromosome 2p16.3 deletion syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs74520052, rs2104921155, rs200792504, rs199546979, rs199960045, rs200604893, rs200935246, rs200915287, rs138261348, rs766942777, rs796052779, rs199784139, rs80293130, rs199978276, rs199939303 View all (23 more)	RCV002505094 RCV002478200 RCV000515306 RCV004796068 RCV000765689 RCV002478659 RCV000764438 RCV000764439 RCV000764440 RCV000764441 RCV002492865 RCV000764442 RCV000515422 RCV000764443 RCV000764444 RCV000764447 RCV000765690 RCV004796752 RCV003227737 RCV002488723 RCV003883343 RCV003991851 RCV002502478 RCV002502477 RCV000764445 RCV004796210 RCV002490838 RCV000768037 RCV005034193 RCV003224348 RCV002485462 RCV000768036 RCV002485745 RCV000768035 RCV002501164 RCV001809966 RCV000764446 RCV000515261 RCV000515350
Complex neurodevelopmental disorder	Uncertain significance	rs748684256	RCV005416269
History of neurodevelopmental disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs80094872, rs74714098, rs55923848, rs143495349, rs112536447, rs113380721, rs151195816, rs1331703447	RCV000717050 RCV000716687 RCV000716113 RCV000715969 RCV000717146 RCV000717459 RCV000719951 RCV000719895
Lung cancer	Benign	rs6704933	RCV005902159
Malignant tumor of esophagus	Likely benign	rs754325368	RCV005931563
NRXN-related disorder	Uncertain significance	rs371321580	RCV000509452
NRXN1-related disorder	Likely benign; Benign; Uncertain significance; not provided; Conflicting classifications of pathogenicity	rs763508293, rs750165040, rs757004682, rs1057517946, rs2104382191, rs367919055, rs201802152, rs74714098, rs201027928, rs113380721, rs201727684, rs201212909, rs148517834, rs201241923, rs144049982 View all (41 more)	RCV004531247 RCV004541984 RCV004536199 RCV004528535 RCV001825244 RCV004737202 RCV004529971 RCV004529972 RCV004532525 RCV004532526 RCV004528847 RCV004544276 RCV004544277 RCV004543898 RCV004724934 RCV004532729 RCV004545294 RCV004540550 RCV004535187 RCV004529221 RCV004737291 RCV004545393 RCV004737302 RCV004530137 RCV004542972 RCV004543007 RCV004535402 RCV004527906 RCV004527937 RCV004529671 RCV004530374 RCV004544629 RCV004531932 RCV004542500 RCV004545589 RCV004545690 RCV004532115 RCV004542438 RCV004545533 RCV004540782 RCV004539774 RCV004530540 RCV004539861 RCV004539775 RCV004533023 RCV004535606 RCV004537881 RCV004544792 RCV004544791 RCV004533398 RCV004540130 RCV004536116 RCV004726990 RCV004545143 RCV004537323 RCV004537324 RCV004542756 RCV004537325 RCV004737188
Obesity	Conflicting classifications of pathogenicity	rs199546979	RCV000787967
Ovarian dysgenesis 3	Uncertain significance	rs1057519409	RCV000417111
Pitt-Hopkins-like syndrome	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs556394274, rs530539369, rs879374430, rs886056160, rs3839057, rs886056176, rs886056180, rs886056181, rs886056187, rs771041201, rs66612444, rs886056182, rs70958640, rs3839058, rs886056164 View all (5 more)	RCV000320127 RCV000292815 RCV000400472 RCV000356496 RCV000302239 RCV000313624 RCV000364932 RCV000265591 RCV000345033 RCV000327123 RCV000290327 RCV000320825 RCV000380036 RCV000317391 RCV000372072 RCV000350915 RCV000398715 RCV000340756 RCV000266901 RCV000280832 RCV000350199 RCV000388078 RCV000296123 RCV000330103 RCV000387012 RCV000289069 RCV000353702 RCV000366986 RCV000335433 RCV000278307 RCV000338168 RCV000293632
Schizophrenia 17	risk factor	rs1558507406	RCV002508128
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs199960045, rs1274997363	RCV002252019 RCV002252302
Thymoma	Likely benign	rs75071398	RCV005919143
Uterine corpus endometrial carcinoma	Likely benign	rs79957110	RCV005904019

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	23772147
Adenocarcinoma of Lung	Associate	32672359
Alzheimer Disease	Associate	22486522, 36776048
Attention Deficit Disorder with Hyperactivity	Associate	31624239
Autism Spectrum Disorder	Associate	18179900, 18252227, 20468056, 21285140, 21647150, 21658581, 21687627, 22209245, 22617343, 22892527, 22952857, 23275889, 23849776, 23879678, 24832020 View all (9 more)
Autistic Disorder	Associate	18945720, 18990708, 19404257, 19557195, 20468056, 20574149, 21477380, 21647150, 23375656, 23472757, 23474816, 23536886, 24204716, 24633560, 26216298 View all (8 more)
Brain Diseases	Associate	20574149
Breast Neoplasms	Associate	34932815
CHARGE Syndrome	Associate	23849776
Chromosome Aberrations	Associate	18179900
Chronic Kidney Disease Mineral and Bone Disorder	Associate	34670813
Colorectal Neoplasms	Associate	39518976
Communication Disorders	Associate	32942984
Congenital Abnormalities	Associate	21827697, 22617343, 26438105
Dermatitis Exfoliative	Associate	25950944
Developmental Disabilities	Associate	20468056, 22617343, 23472757, 23533600, 23536886, 24633560, 26216298, 27195815, 29179725, 31759289, 31893021, 32658356, 34525970
Diabetes Gestational	Associate	35721735
Disease	Associate	26279266, 27195815, 32122280, 32942984
Epilepsy	Associate	21285140, 21827697, 22617343, 24633560, 25950944, 28756411, 31759289, 31893021
Epilepsy Idiopathic Generalized	Associate	23294455, 25243798
Epilepsy Temporal Lobe	Associate	25243798
Esophageal atresia with or without tracheoesophageal fistula	Associate	36135330
Esophageal Squamous Cell Carcinoma	Associate	28694483
Fanconi Anemia	Associate	36135330
Gonadal Dysgenesis	Associate	26438105
Hirschsprung Disease	Associate	29622757
Inflammation	Associate	39243986
Intellectual Disability	Associate	18990708, 20468056, 21827697, 22617343, 24253858, 24633560, 24832020, 26216298, 26438105, 27195815, 31759289, 31893021, 32658356, 36197641
Intracranial Aneurysm	Associate	37041519
Language Development Disorders	Associate	20468056, 21827697, 22617343
Language Disorders	Associate	20574149
Learning Disabilities	Associate	20574149
Leukemia Myeloid Acute	Associate	30289875
Lung Neoplasms	Associate	23772147
Mental Disorders	Associate	18990708, 21827697, 22617343, 23294455, 24633560, 25950944, 26216298, 26438105, 30976086, 32122280, 32658356, 33631419, 36197641
Microcephaly	Associate	26438105
Muscle Hypotonia	Associate	20468056, 22617343
Nasopharyngeal Carcinoma	Associate	34544905
Neoplasms	Inhibit	20195527, 39518976
Nerve Degeneration	Associate	30902061
Neurobehavioral Manifestations	Associate	23472757
Night blindness congenital stationary	Associate	26216298
Obsessive Compulsive Disorder	Associate	29042551
Pathological Conditions Anatomical	Associate	22209245
Polypoidal Choroidal Vasculopathy	Associate	27195815
Prostatic Neoplasms	Associate	34911933
Psychotic Disorders	Associate	31530798
Sarcoma Ewing	Associate	34403115
Schizophrenia	Associate	18945720, 18990708, 20347009, 20468056, 21285140, 21477380, 21687627, 21827697, 22118685, 22617343, 22952857, 23536886, 24311552, 24633560, 26216298 View all (5 more)
Stomach Neoplasms	Associate	27708434
Thyroid Neoplasms	Associate	34158819
Tobacco Use Disorder	Associate	20468056, 21477380
Tourette Syndrome	Associate	23533600, 28641109
Voice Disorders	Associate	24633560

NRXN1 (neurexin 1)