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 pro... See more...

Aliases for NRXN2 Gene

Aliases for NRXN2 Gene

  • Neurexin 2 2 3 5
  • Neurexin-2-Beta 3 4
  • Neurexin II 2 3
  • Neurexin II-Alpha 4
  • Neurexin II-Beta 4
  • Neurexin-2-Alpha 4
  • Neurexin-2 4
  • 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 Pancreatic Gastrinoma and Leukocyte Adhesion Deficiency, Type Iii. Among its related pathways are Transmission across Chemical Synapses and Cell adhesion molecules (CAMs). Gene Ontology (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 Summary 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

Additional gene information for NRXN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NRXN2 Gene

Genomics for NRXN2 Gene

GeneHancer (GH) Regulatory Elements for NRXN2 Gene

Promoters and enhancers for NRXN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NRXN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NRXN2 gene promoter:
  • Bach2
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4

Genomic Locations for NRXN2 Gene

Genomic Locations for NRXN2 Gene
chr11:64,606,174-64,723,188
(GRCh38/hg38)
Size:
117,015 bases
Orientation:
Minus strand
chr11:64,373,646-64,490,660
(GRCh37/hg19)
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:
    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. Interacts with PATJ (By similarity). Interacts with CBLN1, CBLN2 and, less avidly, with CBLN4 (By similarity). Isoforms alpha 2C bind to alpha-dystroglycan (By similarity). Interacts (via Laminin G-like 1 domain) with IGSF21 (Ig-like 1 domain) in a trans-interaction manner (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:
  • 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:

neXtProt entry for NRXN2 Gene

Post-translational modifications for NRXN2 Gene

  • Glycosylation at Asn60, Asn338, Asn841, and Asn1236
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn190

No data available for DME Specific Peptides for NRXN2 Gene

Domains & Families for NRXN2 Gene

Gene Families for NRXN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for NRXN2 Gene

GenScript: Design optimal peptide antigens:
  • Neurexin II-alpha (NRX2A_HUMAN)
  • Neurexin II-beta (NRX2B_HUMAN)
  • KIAA0921 splice variant 1 (Q5W9F7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P2S2

UniProtKB/Swiss-Prot:

NRX2B_HUMAN :
  • Alternative splicing in the laminin G-like domain regulates binding to alpha-dystroglycan.
  • Belongs to the neurexin family.
Domain:
  • Alternative splicing in the laminin G-like domain regulates binding to alpha-dystroglycan.
Family:
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with NRXN2: view

Function for NRXN2 Gene

Molecular function for NRXN2 Gene

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.
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

Phenotypes From GWAS Catalog for NRXN2 Gene

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 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NRXN2

Clone 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 2
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 TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0098793 presynapse IEA --
genes like me logo Genes that share ontologies with NRXN2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NRXN2 Gene

Pathways & Interactions for NRXN2 Gene

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

Pathways by source for NRXN2 Gene

1 Qiagen pathway for NRXN2 Gene
  • Muscular Dystrophies and Dystrophin-Glycoprotein Complex

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 ISS --
genes like me logo Genes that share ontologies with NRXN2: view

No data available for SIGNOR curated interactions for NRXN2 Gene

Drugs & Compounds for NRXN2 Gene

No Compound Related Data Available

Transcripts for NRXN2 Gene

mRNA/cDNA for NRXN2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NRXN2

Clone 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 CGAP 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 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:

Q9P2S2-NRX2A_HUMAN
Tissue specificity: Predominantly expressed in brain.

Evidence on tissue expression from TISSUES for NRXN2 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with NRXN2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NRXN2 Gene

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 33 32
  • 99.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NRXN2 33 32
  • 95.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NRXN2 33 32
  • 94.43 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nrxn2 32
  • 92.7 (n)
mouse
(Mus musculus)
Mammalia Nrxn2 17 33 32
  • 92.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NRXN2 33
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NRXN2 33
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves NRXN3 33
  • 67 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia NRXN2 33
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nrxn2 32
  • 68.15 (n)
zebrafish
(Danio rerio)
Actinopterygii NRXN2 (2 of 2) 33
  • 78 (a)
OneToMany
nrxn2b 32
  • 74.84 (n)
nrxn2a 33
  • 73 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9177 32
fruit fly
(Drosophila melanogaster)
Insecta Nrx-1 33 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nrx-1 33
  • 25 (a)
OneToMany
C29A12.4 34
  • 25 (a)
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)
Aminode:
Evolutionary constrained regions (ECRs) for NRXN2: view image

Paralogs for NRXN2 Gene

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

  • NRX2A_HUMAN
  • NRX2B_HUMAN
  • G5E9G7_HUMAN
  • H7BZC7_HUMAN
  • H7C2R8_HUMAN
  • H7C3D6_HUMAN
  • H7C3J4_HUMAN
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 Variation AA Info Type
rs1057518997 uncertain-significance, Epilepsy, Severe intellectual deficiency 64,713,149(-) A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs12273892 likely-benign, not specified, - 64,713,458(-) A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs777033569 uncertain-significance, Epileptic encephalopathy, early infantile, 1 64,648,841(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs12293481 likely-benign, not specified 64,713,454(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1324262269 likely-benign, not specified 64,713,341(-) T/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant

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

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

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)

Additional Variant Information for NRXN2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NRXN2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NRXN2 Gene - From: HGMD, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NRXN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NRXN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JC (PloS one 2010) 3 43 56
  2. 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) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 43 56
  3. 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 (Gynecologic oncology 2009) 3 43 56
  4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 3 4 56
  5. Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity. (PMID: 11944992) Rowen L … Graveley BR (Genomics 2002) 3 23 56

Products for NRXN2 Gene

  • Biorbyt antibodies for NRXN2

Sources for NRXN2 Gene