NRXN2 (neurexin 2)

Gene

• Entrez ID: 9379
• Gene name: Neurexin 2
• Gene symbol: NRXN2
• Synonyms (NCBI Gene): -
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the up

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1194580	hsa-miR-1321	CLIP-seq
MIRT1194581	hsa-miR-3126-5p	CLIP-seq
MIRT1194582	hsa-miR-3160-3p	CLIP-seq
MIRT1194583	hsa-miR-3202	CLIP-seq
MIRT1194584	hsa-miR-4476	CLIP-seq
MIRT1194585	hsa-miR-4690-3p	CLIP-seq
MIRT1194586	hsa-miR-4739	CLIP-seq
MIRT1194587	hsa-miR-4756-5p	CLIP-seq
MIRT2056533	hsa-miR-1324	CLIP-seq
MIRT2056534	hsa-miR-1827	CLIP-seq
MIRT2056535	hsa-miR-2053	CLIP-seq
MIRT2056536	hsa-miR-4270	CLIP-seq
MIRT2056537	hsa-miR-4311	CLIP-seq
MIRT2056538	hsa-miR-4441	CLIP-seq
MIRT2056539	hsa-miR-4649-3p	CLIP-seq
MIRT2056540	hsa-miR-4773	CLIP-seq
MIRT2056541	hsa-miR-495	CLIP-seq
MIRT2056542	hsa-miR-544b	CLIP-seq
MIRT2056543	hsa-miR-642b	CLIP-seq
MIRT2686619	hsa-miR-1224-3p	CLIP-seq
MIRT2686620	hsa-miR-1260	CLIP-seq
MIRT2686621	hsa-miR-1260b	CLIP-seq
MIRT2686622	hsa-miR-1280	CLIP-seq
MIRT2686623	hsa-miR-1470	CLIP-seq
MIRT2686624	hsa-miR-3679-3p	CLIP-seq
MIRT2686625	hsa-miR-4469	CLIP-seq
MIRT2686626	hsa-miR-4667-3p	CLIP-seq
MIRT2686627	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	NAS	18923512
GO:0005246	Function	Calcium channel regulator activity	IEA
GO:0005246	Function	Calcium channel regulator activity	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007158	Process	Neuron cell-cell adhesion	IEA
GO:0007158	Process	Neuron cell-cell adhesion	TAS	18923512
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	ISS
GO:0007165	Process	Signal transduction	NAS	18923512
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	ISS
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007269	Process	Neurotransmitter secretion	ISS
GO:0007416	Process	Synapse assembly	IEA
GO:0007416	Process	Synapse assembly	ISS
GO:0016020	Component	Membrane	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0030534	Process	Adult behavior	IMP	21424692
GO:0032991	Component	Protein-containing complex	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	IMP	21424692
GO:0042297	Process	Vocal learning	IEA
GO:0042297	Process	Vocal learning	IMP	21424692
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	ISS
GO:0050839	Function	Cell adhesion molecule binding	TAS	18923512
GO:0071625	Process	Vocalization behavior	IEA
GO:0071625	Process	Vocalization behavior	IMP	21424692
GO:0097104	Process	Postsynaptic membrane assembly	IEA
GO:0097104	Process	Postsynaptic membrane assembly	ISS
GO:0097109	Function	Neuroligin family protein binding	IEA
GO:0097109	Function	Neuroligin family protein binding	ISS
GO:0097109	Function	Neuroligin family protein binding	TAS	18923512
GO:0097116	Process	Gephyrin clustering involved in postsynaptic density assembly	IEA
GO:0097116	Process	Gephyrin clustering involved in postsynaptic density assembly	ISS
GO:0097118	Process	Neuroligin clustering involved in postsynaptic membrane assembly	IEA
GO:0097118	Process	Neuroligin clustering involved in postsynaptic membrane assembly	ISS
GO:0097119	Process	Postsynaptic density protein 95 clustering	IEA
GO:0097119	Process	Postsynaptic density protein 95 clustering	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA

Other IDs

• MIM: 600566
• HGNC: 8009
• e!Ensembl: ENSG00000110076

Protein

• UniProt ID: P58401
• Protein name: Neurexin-2-beta (Neurexin II-beta)
• Protein function: Neuronal cell surface protein that may be involved in cell recognition and cell adhesion.
• PDB: 4NXR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02210	Laminin_G_2	123 → 272	Laminin G domain	Domain
  PF01034	Syndecan	582 → 640	Syndecan domain	Family

• Sequence:

  MPPGGSGPGGCPRRPPALAGPLPPPPPPPPPPLLPLLPLLLLLLLGAAEGARVSSSLSTT
  HHVHHFHSKHGTVPIAINRMPFLTRGGHAGTTYIFGKGGALITYTWPPNDRPSTRMDRLA
  VGFSTHQRSAVLVRVDSASGLGDYLQLHIDQGTVGVIFNVGTDDITIDEPNAIVSDGKYH
  VVRFTRSGGNATLQVDSWPVNERYPAGNFDNERLAIARQRIPYRLGRVVDEWLLDKGRQL
  TIFNSQAAIKIGGRDQGRPFQGQVSGLYYNGLKVLALAAESDPNVRTEGHLRLVGEGPSV
  LLSAETTATTLLADMATTIMETTTTMATTTTRRGRSPTLRDSTTQNTDDLLVASAECPSD
  DEDLEECEPSTGGELILPIITEDSLDPPPVATRSPFVPPPPTFYPFLTGVGATQDTLPPP
  AARRPPSGGPCQAERDDSDCEEPIEASGFASGEVFDSSLPPTDDEDFYTTFPLVTDRTTL
  LSPRKPAPRPNLRTDGATGAPGVLFAPSAPAPNLPAGKMNHRDPLQPLLENPPLGPGAPT
  SFEPRRPPPLRPGVTSAPGFPHLPTANPTGPGERGPPGAVEVIRESSSTTGMVVGIVAAA
  ALCILILLYAMYKYRNRDEGSYQVDQSRNYISNSAQSNGAVVKEKAPAAPKTPSKAKKNK
  DKEYYV

• Sequence length: 666
• UniProt ID: Q9P2S2
• Protein name: Neurexin-2 (Neurexin II-alpha) (Neurexin-2-alpha)
• Protein function: Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02210	Laminin_G_2	57 → 187	Laminin G domain	Domain
  PF02210	Laminin_G_2	318 → 459	Laminin G domain	Domain
  PF02210	Laminin_G_2	521 → 666	Laminin G domain	Domain
  PF02210	Laminin_G_2	760 → 890	Laminin G domain	Domain
  PF02210	Laminin_G_2	946 → 1074	Laminin G domain	Domain
  PF02210	Laminin_G_2	1169 → 1318	Laminin G domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in brain.
• Sequence:

  MASGSRWRPTPPPLLLLLLLALAARADGLEFGGGPGQWARYARWAGAASSGELSFSLRTN
  ATRALLLYLDDGGDCDFLELLLVDGRLRLRFTLSCAEPATLQLDTPVADDRWHMVLLTRD
  ARRTALAVDGEARAAEVRSKRREMQVASDLFVGGIPPDVRLSALTLSTVKYEPPFRGLLA
  NLKLGERPPALLGSQGLRGATADPLCAPARNPCANGGLCTVLAPGEVGCDCSHTGFGGKF
  CSEEEHPMEGPAHLTLNSEVGSLLFSEGGAGRGGAGDVHQPTKGKEEFVATFKGNEFFCY
  DLSHNPIQSSTDEITLAFRTLQRNGLMLHTGKSADYVNLSLKSGAVWLVINLGSGAFEAL
  VEPVNGKFNDNAWHDVRVTRNLRQHAGIGHAMVNKLHYLVTISVDGILTTTGYTQEDYTM
  LGSDDFFYIGGSPNTADLPGSPVSNNFMGCLKDVVYKNNDFKLELSRLAKEGDPKMKLQG
  DLSFRCEDVAALDPVTFESPEAFVALPRWSAKRTGSISLDFRTTEPNGLLLFSQGRRAGG
  GAGSHSSAQRADYFAMELLDGHLYLLLDMGSGGIKLRASSRKVNDGEWCHVDFQRDGRKG
  SISVNSRSTPFLATGDSEILDLESELYLGGLPEGGRVDLPLPPEVWTAALRAGYVGCVRD
  LFIDGRSRDLRGLAEAQGAVGVAPFCSRETLKQCASAPCRNGGVCREGWNRFICDCIGTG
  FLGRVCEREATVLSYDGSMYMKIMLPNAMHTEAEDVSLRFMSQRAYGLMMATTSRESADT
  LRLELDGGQMKLTVNLDCLRVGCAPSKGPETLFAGHKLNDNEWHTVRVVRRGKSLQLSVD
  NVTVEGQMAGAHMRLEFHNIETGIMTERRFISVVPSNFIGHLSGLVFNGQPYMDQCKDGD
  ITYCELNARFGLRAIVADPVTFKSRSSYLALATLQAYASMHLFFQFKTTAPDGLLLFNSG
  NGNDFIVIELVKGYIHYVFDLGNGPSLMKGNSDKPVNDNQWHNVVVSRDPGNVHTLKIDS
  RTVTQHSNGARNLDLKGELYIGGLSKNMFSNLPKLVASRDGFQGCLASVDLNGRLPDLIA
  DALHRIGQVERGCDGPSTTCTEESCANQGVCLQQWDGFTCDCTMTSYGGPVCNDPGTTYI
  FGKGGALITYTWPPNDRPSTRMDRLAVGFSTHQRSAVLVRVDSASGLGDYLQLHIDQGTV
  GVIFNVGTDDITIDEPNAIVSDGKYHVVRFTRSGGNATLQVDSWPVNERYPAGNFDNERL
  AIARQRIPYRLGRVVDEWLLDKGRQLTIFNSQAAIKIGGRDQGRPFQGQVSGLYYNGLKV
  LALAAESDPNVRTEGHLRLVGEGPSVLLSAETTATTLLADMATTIMETTTTMATTTTRRG
  RSPTLRDSTTQNTDDLLVASAECPSDDEDLEECEPSTGGELILPIITEDSLDPPPVATRS
  PFVPPPPTFYPFLTGVGATQDTLPPPAARRPPSGGPCQAERDDSDCEEPIEASGFASGEV
  FDSSLPPTDDEDFYTTFPLVTDRTTLLSPRKPAPRPNLRTDGATGAPGVLFAPSAPAPNL
  PAGKMNHRDPLQPLLENPPLGPGAPTSFEPRRPPPLRPGVTSAPGFPHLPTANPTGPGER
  GPPGAVEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYQVDQSRNYISNS
  AQSNGAVVKEKAPAAPKTPSKAKKNKDKEYYV

• Sequence length: 1712

Pathways

KEGG:

Cell adhesion molecules

Reactome:

Neurexins and neuroligins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	not provided	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NRXN2-associated Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NRXN2-related Austism Spectrum Disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NRXN2-related autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NRXN2-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	not provided	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Severe intellectual deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amnesia	Amnesia	BEFREE	28283575		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	20884846, 21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	27899376		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22209245, 29703944	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21424692, 22209245, 23393157, 26164757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	21424692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	GENOMICS_ENGLAND_DG	29654904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	BEFREE	29654904		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29654904, 30076746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	30076746	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	29654904		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	20884846, 21768215, 23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	GWASCAT_DG	27899376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	26164757		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29654904		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukocyte Adhesion Deficiency, Type III	Leukocyte adhesion deficiency	BEFREE	19064721		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34126933	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	23393157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	33770142	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	26164757		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	25149502	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21424692		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	PSYGENET_DG	21424692		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	28635376, 30649277		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34777568	Inhibit	★☆☆☆☆ Found in Text Mining only