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Aliases for NRXN2 Gene

Aliases for NRXN2 Gene

  • Neurexin 2 2 3 5
  • Neurexin II 2 3
  • Neurexin II-Alpha 4
  • Neurexin II-Beta 4
  • Neurexin-2-Alpha 4
  • Neurexin-2-Beta 3
  • KIAA0921 4

External Ids for NRXN2 Gene

Previous GeneCards Identifiers for NRXN2 Gene

  • GC11M066889
  • GC11M066055
  • GC11M064150
  • GC11M064151
  • GC11M064130
  • GC11M064373
  • GC11M060700

Summaries for NRXN2 Gene

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 Cord Glioma and Spinal Cancer. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses. GO annotations related to this gene include transmembrane signaling receptor activity and calcium channel regulator activity. An important paralog of this gene is NRXN1.

UniProtKB/Swiss-Prot for NRXN2 Gene

  • Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling.

  • Neuronal cell surface protein that may be involved in cell recognition and cell adhesion.

Gene Wiki entry for NRXN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NRXN2 Gene

Genomics for NRXN2 Gene

Regulatory Elements for NRXN2 Gene

Enhancers for NRXN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F064686 1.3 Ensembl ENCODE 25.9 +35.0 35009 2.7 ATF1 ARNT CREB3L1 SIN3A FEZF1 ZNF48 ZNF2 ETS1 GLIS2 GATA2 NRXN2 NEAT1 SSSCA1-AS1 FAU SNX15 C11orf84 ENSG00000269038 MRPL49 MEN1 ENSG00000237410
GH11F064659 1.2 FANTOM5 ENCODE 26.2 +62.7 62669 3.0 HDGF HDAC1 PKNOX1 CBX3 ATF1 ARNT NFRKB RAD21 GATA2 FOS NRXN2 BATF2 ENSG00000237410
GH11F064609 1 Ensembl ENCODE 29.2 +113.3 113341 0.5 SUZ12 ZNF76 DEAF1 MAX ETS1 ZNF143 CREM THAP11 HCFC1 ZBTB11 NRXN2 NEAT1 FAU ATL3 MRPL49 SLC22A12 GC11M064638 GC11M064637
GH11F064654 1 Ensembl ENCODE 28.5 +67.2 67188 3.6 HDGF GTF2F1 TBP CTCF PKNOX1 MXI1 JUN MAX UBTF RFX5 NRXN2 ENSG00000269038 ENSG00000237410
GH11F064674 1.1 Ensembl ENCODE 25.8 +47.5 47488 1.8 HDGF BMI1 GLI4 ZNF2 GLIS2 ZNF366 ZNF143 FOS EGR2 REST NRXN2 TRMT112 ENSG00000237410
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NRXN2 on UCSC Golden Path with GeneCards custom track

Promoters for NRXN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109796 -112 1001 ATF1 PKNOX1 ZNF48 ZNF2 ZNF121 GLIS2 ZNF143 FOS NFYC REST

Genomic Location for NRXN2 Gene

Chromosome:
11
Start:
64,606,174 bp from pter
End:
64,723,188 bp from pter
Size:
117,015 bases
Orientation:
Minus strand

Genomic View for NRXN2 Gene

Genes around NRXN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NRXN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NRXN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NRXN2 Gene

Proteins for NRXN2 Gene

  • Protein details for NRXN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58401-NRX2B_HUMAN
    Recommended name:
    Neurexin-2-beta
    Protein Accession:
    P58401

    Protein attributes for NRXN2 Gene

    Size:
    666 amino acids
    Molecular mass:
    70927 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for NRXN2 Gene

    Alternative splice isoforms for NRXN2 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for NRXN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2S2-NRX2A_HUMAN
    Recommended name:
    Neurexin-2
    Protein Accession:
    Q9P2S2
    Secondary Accessions:
    • A7E2C1
    • Q9Y2D6

    Protein attributes for NRXN2 Gene

    Size:
    1712 amino acids
    Molecular mass:
    184982 Da
    Quaternary structure:
    • The laminin G-like domain 1 binds to NXPH1. Specific isoforms bind to alpha-dystroglycan. Interacts with PATJ (By similarity). Interacts with CBLN1, CBLN2 and, less avidly, with CBLN4 (By similarity).
    SequenceCaution:
    • Sequence=BAA76765.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for NRXN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NRXN2 Gene

Post-translational modifications for NRXN2 Gene

  • Glycosylation at Asn 190
  • Glycosylation at Asn 60, Asn 338, Asn 841, and Asn 1236
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NRXN2 Gene

Domains & Families for NRXN2 Gene

Suggested Antigen Peptide Sequences for NRXN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2S2

UniProtKB/Swiss-Prot:

NRX2A_HUMAN :
  • Contains 3 EGF-like domains.
  • Belongs to the neurexin family.
Domain:
  • Contains 3 EGF-like domains.
  • Contains 6 laminin G-like domains.
  • Alternative splicing in the laminin G-like domain regulates binding to alpha-dystroglycan.
  • Contains 1 laminin G-like domain.
Family:
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with NRXN2: view

No data available for Gene Families for NRXN2 Gene

Function for NRXN2 Gene

Molecular function for NRXN2 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling.
UniProtKB/Swiss-Prot Function:
Neuronal cell surface protein that may be involved in cell recognition and cell adhesion.

Gene Ontology (GO) - Molecular Function for NRXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity ISS --
GO:0005246 calcium channel regulator activity IEA,ISS --
GO:0046872 metal ion binding IEA --
GO:0050839 cell adhesion molecule binding ISS --
GO:0097109 neuroligin family protein binding ISS --
genes like me logo Genes that share ontologies with NRXN2: view
genes like me logo Genes that share phenotypes with NRXN2: view

Animal Models for NRXN2 Gene

MGI Knock Outs for NRXN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for NRXN2

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for NRXN2 Gene

Localization for NRXN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NRXN2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NRXN2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NRXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0042734 presynaptic membrane IEA --
GO:0043234 protein complex IEA --
genes like me logo Genes that share ontologies with NRXN2: view

Pathways & Interactions for NRXN2 Gene

genes like me logo Genes that share pathways with NRXN2: view

Pathways by source for NRXN2 Gene

Gene Ontology (GO) - Biological Process for NRXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007158 neuron cell-cell adhesion TAS 18923512
GO:0007165 signal transduction ISS --
GO:0007268 chemical synaptic transmission ISS --
GO:0007269 neurotransmitter secretion IEA,ISS --
genes like me logo Genes that share ontologies with NRXN2: view

No data available for SIGNOR curated interactions for NRXN2 Gene

Transcripts for NRXN2 Gene

Unigene Clusters for NRXN2 Gene

Neurexin 2:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NRXN2 Gene

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:
SP6: -
SP7: -
SP8:
SP9: -
SP10:

ExUns: 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25
SP1: -
SP2:
SP3: - -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for NRXN2 Gene

GeneLoc Exon Structure for
NRXN2
ECgene alternative splicing isoforms for
NRXN2

Expression for NRXN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NRXN2 Gene

mRNA differential expression in normal tissues according to GTEx for NRXN2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x8.0) and Brain - Cerebellum (x7.8).

Protein differential expression in normal tissues from HIPED for NRXN2 Gene

This gene is overexpressed in Fetal Brain (31.9), Cerebrospinal fluid (13.4), and Plasma (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NRXN2 Gene



Protein tissue co-expression partners for NRXN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NRXN2 Gene:

NRXN2

SOURCE GeneReport for Unigene cluster for NRXN2 Gene:

Hs.372938

mRNA Expression by UniProt/SwissProt for NRXN2 Gene:

P58401-NRX2B_HUMAN
Tissue specificity: Predominantly expressed in brain.
genes like me logo Genes that share expression patterns with NRXN2: view

Primer Products

Orthologs for NRXN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NRXN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NRXN2 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia NRXN2 34 35
  • 95.01 (n)
cow
(Bos Taurus)
Mammalia NRXN2 34 35
  • 94.43 (n)
rat
(Rattus norvegicus)
Mammalia Nrxn2 34
  • 92.7 (n)
mouse
(Mus musculus)
Mammalia Nrxn2 34 16 35
  • 92.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NRXN2 35
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NRXN2 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves NRXN3 35
  • 67 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia NRXN2 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nrxn2 34
  • 68.15 (n)
zebrafish
(Danio rerio)
Actinopterygii NRXN2 (2 of 2) 35
  • 78 (a)
OneToMany
nrxn2b 34
  • 74.84 (n)
nrxn2a 35
  • 73 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9177 34
fruit fly
(Drosophila melanogaster)
Insecta Nrx-1 36 35
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea C29A12.4 36
  • 25 (a)
nrx-1 35
  • 25 (a)
OneToMany
Species where no ortholog for NRXN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NRXN2 Gene

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

Paralogs for NRXN2 Gene

(4) SIMAP similar genes for NRXN2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with NRXN2: view

Variants for NRXN2 Gene

Sequence variations from dbSNP and Humsavar for NRXN2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs12273892 Likely benign 64,713,458(+) CCAGC(A/T)GCAGC nc-transcript-variant, reference, missense
rs12293481 Likely benign 64,713,454(+) TCCAC(C/T)AGCAG nc-transcript-variant, reference, synonymous-codon
rs144906809 Likely benign 64,651,249(+) CAGCC(C/T)CTCAC intron-variant
rs146308270 Likely benign 64,685,708(+) ATTGA(C/T)GGGTT nc-transcript-variant, reference, missense
rs148473653 Likely benign 64,648,884(+) CTTGC(C/T)CAGAC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NRXN2 Gene

Variant ID Type Subtype PubMed ID
nsv951012 CNV deletion 24416366
nsv951011 CNV deletion 24416366
nsv832189 CNV loss 17160897
nsv832188 CNV gain 17160897
nsv818842 CNV gain 17921354
nsv555199 CNV loss 21841781
nsv555197 CNV loss 21841781
nsv528506 CNV loss 19592680
nsv359 CNV deletion 18451855
nsv1143687 CNV deletion 24896259
esv3626664 CNV loss 21293372
esv3382718 CNV duplication 20981092
esv3381802 CNV duplication 20981092
esv28928 CNV gain 19812545
esv2676104 CNV deletion 23128226
esv2516770 CNV insertion 19546169
esv2422214 CNV deletion 17116639
esv1090895 CNV insertion 17803354
dgv665n106 CNV deletion 24896259
dgv1967n54 CNV loss 21841781
dgv1966n54 CNV loss 21841781
dgv1965n54 CNV loss 21841781
dgv153n27 CNV loss 19166990

Variation tolerance for NRXN2 Gene

Residual Variation Intolerance Score: 0.657% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.78; 78.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NRXN2 Gene

Human Gene Mutation Database (HGMD)
NRXN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NRXN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NRXN2 Gene

Disorders for NRXN2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NRXN2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinal cord glioma
  • glial neoplasm spinal cord
spinal cancer
  • spinal cord cancer
pancreatic gastrinoma
  • pancreatic g-cell tumor
- elite association - COSMIC cancer census association via MalaCards
Search NRXN2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NRXN2

Genetic Association Database (GAD)
NRXN2
Human Genome Epidemiology (HuGE) Navigator
NRXN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NRXN2
genes like me logo Genes that share disorders with NRXN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NRXN2 Gene

Publications for NRXN2 Gene

  1. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64
  2. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PMID: 18950845) Vega A. … Carracedo A. (Gynecol. Oncol. 2009) 3 46 64
  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. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 3 4 64
  5. Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity. (PMID: 11944992) Rowen L. … Graveley B.R. (Genomics 2002) 3 22 64

Products for NRXN2 Gene

Sources for NRXN2 Gene

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