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    NRXN2 neurexin 2 [ Homo sapiens (human) ]

    Gene ID: 9379, updated on 10-Mar-2024

    Summary

    Official Symbol
    NRXN2provided by HGNC
    Official Full Name
    neurexin 2provided by HGNC
    Primary source
    HGNC:HGNC:8009
    See related
    Ensembl:ENSG00000110076 MIM:600566; AllianceGenome:HGNC:8009
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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 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]
    Expression
    Biased expression in brain (RPKM 25.4), testis (RPKM 3.9) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    11q13.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64606174..64723197, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64599157..64716433, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64373646..64490669, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64325867-64326380 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64327331-64327499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64332286-64333255 Neighboring gene solute carrier family 22 member 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64338776-64339380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64350049-64350932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64350933-64351815 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64352037-64352222 Neighboring gene solute carrier family 22 member 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64372269-64373070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387298-64387914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387915-64388530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64404690-64405258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414407-64414908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414909-64415408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64415526-64416494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64419195-64419694 Neighboring gene NRXN2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64421037-64421537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64424651-64425150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64424149-64424650 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64426961-64428160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64455312-64456232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64480596-64481379 Neighboring gene Sharpr-MPRA regulatory region 4107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64492769-64493607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64506559-64507108 Neighboring gene RAS guanyl releasing protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64520964-64521574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64525447-64526151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64526152-64526855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64526856-64527560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64527561-64528263 Neighboring gene glycogen phosphorylase, muscle associated

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ40892, KIAA0921

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cell adhesion molecule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables neuroligin family protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transmembrane signaling receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in adult behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chemical synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in gephyrin clustering involved in postsynaptic density assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuroligin clustering involved in postsynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron cell-cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in postsynaptic density protein 95 clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in postsynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vocal learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vocalization behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    neurexin-2-beta
    Names
    neurexin II

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047107.1 RefSeqGene

      Range
      4992..122015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001376262.1NP_001363191.1  neurexin-2-beta isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001092, AP001462
      UniProtKB/TrEMBL
      A0A994J4N8
      Related
      ENSP00000516029.1, ENST00000704781.1
      Conserved Domains (5) summary
      smart00282
      Location:516666
      LamG; Laminin G domain
      cd00054
      Location:694727
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14431482
      Syndecan; Syndecan domain
      pfam02210
      Location:9461071
      Laminin_G_2; Laminin G domain
    2. NM_001376263.1NP_001363192.1  neurexin-2-beta isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001092, AP001462
      Consensus CDS
      CCDS91500.1
      UniProtKB/TrEMBL
      A0A8I5KY42, A0A994J4N8
      Related
      ENSP00000509497.1, ENST00000688050.1
      Conserved Domains (5) summary
      smart00282
      Location:509659
      LamG; Laminin G domain
      cd00054
      Location:687720
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14361475
      Syndecan; Syndecan domain
      pfam02210
      Location:9391064
      Laminin_G_2; Laminin G domain
    3. NM_001376265.1NP_001363194.1  neurexin-2-beta isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001092, AP001462
      UniProtKB/TrEMBL
      A0A994J4N8
      Conserved Domains (5) summary
      smart00282
      Location:501651
      LamG; Laminin G domain
      cd00054
      Location:679712
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14281467
      Syndecan; Syndecan domain
      pfam02210
      Location:9311056
      Laminin_G_2; Laminin G domain
    4. NM_001376266.1NP_001363195.1  neurexin-2-beta isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001092, AP001462
      UniProtKB/TrEMBL
      A0A994J4N8
      Related
      ENSP00000510245.1, ENST00000693456.1
      Conserved Domains (5) summary
      smart00282
      Location:508658
      LamG; Laminin G domain
      cd00054
      Location:686719
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14351474
      Syndecan; Syndecan domain
      pfam02210
      Location:9381063
      Laminin_G_2; Laminin G domain
    5. NM_001376267.1NP_001363196.1  neurexin-2-beta isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001092, AP001462
      UniProtKB/TrEMBL
      A0A994J4N8
      Related
      ENSP00000508669.1, ENST00000689935.1
      Conserved Domains (5) summary
      smart00282
      Location:509659
      LamG; Laminin G domain
      cd00054
      Location:687720
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14061445
      Syndecan; Syndecan domain
      pfam02210
      Location:9391064
      Laminin_G_2; Laminin G domain
    6. NM_001400681.1NP_001387610.1  neurexin-2-beta isoform 9

      Status: REVIEWED

      Source sequence(s)
      AP001092
    7. NM_001400682.1NP_001387611.1  neurexin-2-beta isoform 10

      Status: REVIEWED

      Source sequence(s)
      AP001092
    8. NM_015080.4NP_055895.1  neurexin-2-beta isoform alpha-1 precursor

      See identical proteins and their annotated locations for NP_055895.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha-1) encodes the longest isoform (alpha-1).
      Source sequence(s)
      AP001092, AP001462
      Consensus CDS
      CCDS8077.1
      UniProtKB/Swiss-Prot
      A7E2C1, Q9P2S2, Q9Y2D6
      UniProtKB/TrEMBL
      A0A994J5C3
      Related
      ENSP00000265459.5, ENST00000265459.11
      Conserved Domains (5) summary
      smart00282
      Location:516666
      LamG; Laminin G domain
      cd00054
      Location:694727
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:16371676
      Syndecan; Syndecan domain
      pfam02210
      Location:9461074
      Laminin_G_2; Laminin G domain
    9. NM_138732.3NP_620060.1  neurexin-2-beta isoform alpha-2 precursor

      See identical proteins and their annotated locations for NP_620060.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha-2) lacks 3 exons and a portion from a fourth exon in the coding region, as compared to variant alpha-2. It encodes isoform alpha-2 which is missing 4 internal aa fragments but has identical N- and C-termini to isoform alpha-1.
      Source sequence(s)
      AB023138, AP001092, AP001462
      Consensus CDS
      CCDS31597.1
      UniProtKB/TrEMBL
      G5E9G7
      Related
      ENSP00000366782.3, ENST00000377559.7
      Conserved Domains (5) summary
      smart00282
      Location:485635
      LamG; Laminin G domain
      cd00054
      Location:663696
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:15671606
      Syndecan; Syndecan domain
      pfam02210
      Location:9061034
      Laminin_G_2; Laminin G domain
    10. NM_138734.3NP_620063.1  neurexin-2-beta isoform beta precursor

      See identical proteins and their annotated locations for NP_620063.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta) lacks most 5' exons and has an alternate exon at the 5' end, as compared to variant alpha-1. It encodes isoform beta which has a much shorter and different N-terminus than isoform alpha-1 (PMID: 12036300 and PMID: 11944992).
      Source sequence(s)
      AP001092
      Consensus CDS
      CCDS8078.1
      UniProtKB/Swiss-Prot
      P58401
      Related
      ENSP00000301894.2, ENST00000301894.6
      Conserved Domains (4) summary
      smart00294
      Location:611629
      4.1m; putative band 4.1 homologues' binding motif
      PHA03247
      Location:387586
      PHA03247; large tegument protein UL36; Provisional
      pfam01034
      Location:591626
      Syndecan; Syndecan domain
      pfam02210
      Location:123271
      Laminin_G_2; Laminin G domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64606174..64723197 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64599157..64716433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)