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NRXN2 Gene

protein-coding   GIFtS: 63
GCID: GC11M064373

Neurexin 2

  See NRXN2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Neurexin 21 2     Neurexin-2-alpha3
Neurexin II1 2     Neurexin II-Alpha3
neurexin-2-beta2     Neurexin II-Beta3
KIAA09213     

External Ids:    HGNC: 80091   Entrez Gene: 93792   Ensembl: ENSG000001100767   OMIM: 6005665   UniProtKB: Q9P2S23   
UniProtKB: P584013   

Export aliases for NRXN2 gene to outside databases

Previous GC identifers: GC11M066889 GC11M066055 GC11M064623 GC11M064150 GC11M064151 GC11M064130 GC11M060700


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NRXN2 Gene:
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 upstream promoter and encode alpha-neurexin isoforms while a smaller number of
transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins
contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact
with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than
alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript
variants (PMID: 12036300, PMID: 11944992).(provided by RefSeq, Jun 2010)

GeneCards Summary for NRXN2 Gene:
NRXN2 (neurexin 2) is a protein-coding gene. Diseases associated with NRXN2 include spinal cancer, and pancreatic gastrinoma. GO annotations related to this gene include neuroligin family protein binding and cell adhesion molecule binding. An important paralog of this gene is CNTNAP1.

UniProtKB/Swiss-Prot: NRX2A_HUMAN, Q9P2S2 (see all)
Function: Neuronal cell surface protein that may be involved in cell recognition and cell adhesion

Gene Wiki entry for NRXN2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NRXN2 gene promoter:
         E2F-3a   E2F-4   E2F   E2F-1   Bach2   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NRXN2 promoter sequence
   Search Chromatin IP Primers for NRXN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NRXN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

NRXN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NRXN2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M064373:  view genomic region     (about GC identifiers)

Start:
64,373,646 bp from pter      End:
64,490,660 bp from pter
Size:
117,015 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NRX2A_HUMAN, Q9P2S2 (See protein sequence)
Recommended Name: Neurexin-2 precursor  
Size: 1712 amino acids; 184982 Da
Subunit: The laminin G-like domain 1 binds to NXPH1. Specific isoforms bind to alpha-dystroglycan. Interacts with
INADL (By similarity). Interacts with CBLN1, CBLN2 and, less avidly, with CBLN4 (By similarity)
Sequence caution: Sequence=BAA76765.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A7E2C1 Q9Y2D6
Alternative promoter usage, Alternative splicing: 3 isoforms:  Q9P2S2-1   Q9P2S2-2   P58401-1   

UniProtKB/Swiss-Prot: NRX2B_HUMAN, P58401 (See protein sequence)

Recommended Name: Neurexin-2-beta precursor  
Size: 666 amino acids; 70927 Da
Subunit: The cytoplasmic C-terminal region binds to CASK. Specific isoforms bind alpha-dystroglycan and
neuroligins NLGN1, NLGN2 and NLGN3 (By similarity). Interacts with CBLN1, CBLN2 and, less avidly, with CBLN4 (By
similarity)
Alternative promoter usage, Alternative splicing: 3 isoforms:  P58401-1   Q9P2S2-1   Q9P2S2-2   

Explore the universe of human proteins at neXtProt for NRXN2: NX_P58401

Explore proteomics data for NRXN2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn190
  • Modification sites at PhosphoSitePlus

  • See NRXN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_055895.1  NP_620060.1  NP_620063.1  

    ENSEMBL proteins: 
     ENSP00000301894   ENSP00000366774   ENSP00000366782   ENSP00000386416   ENSP00000407374  
     ENSP00000388971   ENSP00000411271   ENSP00000412211   ENSP00000265459  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR003585 Neurexin-like
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR027160 NRXN2

    Graphical View of Domain Structure for InterPro Entry Q9P2S2
    Graphical View of Domain Structure for InterPro Entry P58401

    ProtoNet protein and cluster: Q9P2S2

    3 Blocks protein domains:
    IPB001791 Laminin G
    IPB003585 Neurexin/syndecan/glycophorin C
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: NRX2A_HUMAN, Q9P2S2
    Similarity: Belongs to the neurexin family
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 6 laminin G-like domains

    UniProtKB/Swiss-Prot: NRX2B_HUMAN, P58401
    Domain: Alternative splicing in the laminin G-like domain regulates binding to alpha-dystroglycan
    Similarity: Belongs to the neurexin family
    Similarity: Contains 1 laminin G-like domain


    Find genes that share domains with NRXN2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
    UniProtKB/Swiss-Prot Summary: NRX2A_HUMAN, Q9P2S2 (see all)
    Function: Neuronal cell surface protein that may be involved in cell recognition and cell adhesion

         Genatlas biochemistry entry for NRXN2:
    rat neurexin II alpha homolog longer form,also coding for the shorter beta neurexin II form,both with multiple
    alternatively spliced isoforms,potentially involved in neuronal cell adhesion and intercellular signaling

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005246calcium channel regulator activity ISS--
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
    GO:0050839cell adhesion molecule binding TAS18923512
    GO:0097109neuroligin family protein binding TAS18923512
         
    Find genes that share ontologies with NRXN2           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nrxn2):
     growth/size/body  mortality/aging  nervous system  normal  respiratory system 

    Find genes that share phenotypes with NRXN2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NRXN2: Nrxn2tm1Sud Nrxn2tm3Sud

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NRXN2
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    hsa-miR-194* hsa-miR-1260b hsa-miR-449a hsa-miR-877* hsa-miR-629* hsa-miR-3170 hsa-miR-642b hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidNRXN2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NRXN2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NRX2A_HUMAN, Q9P2S2: Membrane; Single-pass type I membrane protein (Potential)
    NRX2B_HUMAN, P58401: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    lysosome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with NRXN2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NRXN2 About    
    See pathways by source

    SuperPathContained pathways About
    1GABA signaling in brain
    GABA signaling in brain0.32
    2Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    3Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)


    Find genes that share SuperPaths with NRXN2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for NRXN2
        Muscular Dystrophies and Dystrophin-Glycoprotein Complex


    1 Kegg Pathway  (Kegg details for NRXN2):
        Cell adhesion molecules (CAMs)

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NRXN2
    Interactions:

        Search GeneGlobe Interaction Network for NRXN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for NRXN2 (P584012, 3 Q9P2S22, 3 ENSP000002654594) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDX24Q9GZR72MINT-65426
    MAPK6Q166592MINT-8261560
    NLGN4YENSP000003425354STRING: ENSP00000342535
    CASKENSP000003674084STRING: ENSP00000367408
    INADLENSP000003602004STRING: ENSP00000360200
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion ----
    GO:0007158neuron cell-cell adhesion TAS18923512
    GO:0007268synaptic transmission ISS--
    GO:0007269neurotransmitter secretion ISS--
    GO:0007416synapse assembly ISS--

    Find genes that share ontologies with NRXN2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NRXN2 (NRX2B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NRXN2 gene (3 alternative transcripts): 
    NM_015080.3  NM_138732.2  NM_138734.2  

    Unigene Cluster for NRXN2:

    Neurexin 2
    Hs.372938  [show with all ESTs]
    Unigene Representative Sequence: NM_015080
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464307(uc001oao.3) ENST00000301894(uc001oap.3) ENST00000377551(uc001oaq.3)
    ENST00000377559(uc021qkx.1 uc001oas.3) ENST00000409571 ENST00000475737
    ENST00000423049 ENST00000467055 ENST00000487484 ENST00000486057 ENST00000496291
    ENST00000442300 ENST00000417749 ENST00000437746 ENST00000466324 ENST00000265459(uc021qkw.1)

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    Selected qRT-PCR Assays for microRNAs that regulate NRXN2 (see all 39):
    hsa-miR-194* hsa-miR-1260b hsa-miR-449a hsa-miR-877* hsa-miR-629* hsa-miR-3170 hsa-miR-642b hsa-miR-34c-5p
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    Additional mRNA sequence: 

    AB023138.2 AB035266.1 AB177862.1 AK098211.1 BC150275.1 

    14 DOTS entries:

    DT.120739869  DT.95263591  DT.202749  DT.97770775  DT.97820132  DT.101980234  DT.120739881  DT.97836354 
    DT.95155313  DT.95263587  DT.120739850  DT.120739856  DT.75179725  DT.91983894 

    Selected AceView cDNA sequences (see all 26):

    CA415696 BF946729 BF946851 BM714703 BF946858 BF946835 BF946849 BF946700 
    BF922840 BF946751 BF946731 AB023138 BG911023 CB152238 NM_015080 NM_138732 
    BF948522 BQ339204 AA663739 BF946831 BQ339200 BF528907 BF948523 BG912141 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NRXN2 (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^
    SP1:                                                  -                                                                 -     -     -                       -   
    SP2:                                                                                                                          -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25
    SP1:        -                                 
    SP2:                                          
    SP3:  -     -                                 
    SP4:                                          
    SP5:                                -         


    ECgene alternative splicing isoforms for NRXN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NRXN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAAGTACC
    NRXN2 Expression
    About this image


    NRXN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             cerebellum   
     
     Eye (Sensory Organs)
    NRXN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NRXN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.372938

    UniProtKB/Swiss-Prot: NRX2A_HUMAN, Q9P2S2
    Tissue specificity: Predominantly expressed in brain


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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRXN2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NRXN2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nrxn21 , 5 neurexin II1, 5 92.37(n)1
    98.3(a)1
      19 (4.65 cM)5
    181901  NM_001205234.11  NP_001192163.11 
     64187315 
    chicken
    (Gallus gallus)
    Aves NRXN36
    neurexin 3 isoform a precursor
    67(a)
    many ↔ many
    5(38796212-39223738) ENSGALG00000010518
    lizard
    (Anolis carolinensis)
    Reptilia NRXN26
    neurexin 2
    88(a)
    1 ↔ 1
    GL343652.1(134684-316494)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nrxn21 neurexin 2 68.15(n)
    75.64(a)
      100491218  XM_004913509.1  XP_004913566.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nrxn2b1 neurexin 2b 74.84(n)
    76.58(a)
      560420  NM_001079984.1  NP_001073453.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nrx-13   -- 34(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea C29A12.43 neurexin I like 25(a)   V(10827618-10849015)   --


    ENSEMBL Gene Tree for NRXN2 (if available)
    TreeFam Gene Tree for NRXN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NRXN2 gene
    CNTNAP12  ENSG000002360292  NRXN32  CNTNAP52  CNTNAP3B2  CNTNAP32  CNTNAP22  CNTNAP42  
    NRXN12  
    4 SIMAP similar genes for NRXN2 using alignment to 7 protein entries:     NRX2A_HUMAN (see all proteins):
    KIAA0921    DKFZp313P2036    NRXN3    NRXN1

    Find genes that share paralogs with NRXN2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NRXN2 (see all 2049)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1476762201,2
    Cuntested164453148(+) ACGTCG/ATGCCA 4 /H syn11Minor allele frequency- A:0.00NA 4552
    rs347817451,2
    C--60709864(+) TGTGT-/GTGTGTGTGTG
    TGTGTGTGTGTGT
    ATGTG
    3 -- int10--------
    rs354036251,2
    C--64353074(+) GTTAA-/TTTTTT 2 -- int10--------
    rs1897954331,2
    --64373168(+) AGACTC/GTAGAG 3 -- ds50010--------
    rs1824078601,2
    --64373420(+) AAGGTC/GTGTGA 3 -- ds50010--------
    rs171461101,2
    C,F--64373429(+) GAACCG/AGCCAG 3 -- ds50016Minor allele frequency- A:0.15NA WA CSA 260
    rs79324371,2
    C,F,A,H--64373504(+) ACAAGT/CTATCC 3 -- ds5001105Minor allele frequency- C:0.33NS NA EA PA EU CA WA CSA 6564
    rs1390487171,2
    --64373644(+) AGGACA/CGTTGG 3 -- ds50010--------
    rs112318401,2
    C,F,H--64373656(+) ATTTGG/CAAAGT 3 -- ut316Minor allele frequency- C:0.08NS NA EA 502
    rs171461191,2
    C,F,H--64373899(+) GCATTT/GGCCTT 3 -- ut3113Minor allele frequency- G:0.14NA NS WA CSA 1328

    HapMap Linkage Disequilibrium report for NRXN2 (64373646 - 64490660 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NRXN2 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676104CNV Deletion23128226
    esv2422214CNV Deletion17116639
    esv2516770CNV Insertion19546169
    esv1090895CNV Insertion17803354
    nsv528506CNV Loss19592680
    nsv359CNV Loss18451855
    nsv897694CNV Loss21882294
    dgv153n27CNV Loss19166990
    nsv897692CNV Loss21882294
    dgv1172n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): NRXN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NRXN2
    DNA2.0 Custom Variant and Variant Library Synthesis for NRXN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600566    OMIM disorders: --

    2 diseases for NRXN2:    
    About MalaCards
    spinal cancer    pancreatic gastrinoma

    3 diseases from the University of Copenhagen DISEASES database for NRXN2:
    Pancreatic gastrinoma     Spinal cancer     Autistic disorder

    Find genes that share disorders with NRXN2           About GenesLikeMe

    Genetic Association Database (GAD): NRXN2
    Human Genome Epidemiology (HuGE) Navigator: NRXN2 (4 documents)

    Export disorders for NRXN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NRXN2 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with NRXN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    2. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PubMed id 18950845)1, 4 Vega A....Carracedo A. (Gynecol. Oncol. 2009)
    3. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)1, 2 Taylor T.D....Sakaki Y. (Nature 2006)
    5. Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin. (PubMed id 1621094)1, 3 Ushkaryov Y.A....SA1dhof T.C. (Science 1992)
    6. Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity. (PubMed id 11944992)1, 9 Rowen L.... Graveley B.R. (Genomics 2002)
    7. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (PubMed id 23263486)1 KAPttgen A....Gieger C. (Nat. Genet. 2013)
    8. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PubMed id 22797727)1 Okada Y....Tanaka T. (Nat. Genet. 2012)
    9. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    10. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. (PubMed id 21424692)1 Gauthier J....Rouleau G.A. (Hum. Genet. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9379 HGNC: 8009 AceView: NRXN2.1 Ensembl:ENSG00000110076 euGenes: HUgn9379
    ECgene: NRXN2 Kegg: 9379 H-InvDB: NRXN2

    (According to HUGE)
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    HUGE: KIAA0921

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NRXN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NRXN2 gene:
    Search GeneIP for patents involving NRXN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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