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Aliases for NRXN1 Gene

Aliases for NRXN1 Gene

  • Neurexin 1 2 3 5
  • Neurexin I-Alpha 4
  • Neurexin-1-Alpha 4
  • Neurexin I-Beta 4
  • Neurexin I 3
  • Neurexin-1 3
  • Hs.22998 3
  • KIAA0578 4
  • PTHSL2 3
  • SCZD17 3

External Ids for NRXN1 Gene

Previous GeneCards Identifiers for NRXN1 Gene

  • GC02M050188
  • GC02M050326
  • GC02M050122
  • GC02M050059
  • GC02M050000
  • GC02M050145
  • GC02M049879

Summaries for NRXN1 Gene

Entrez Gene Summary for NRXN1 Gene

  • This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]

GeneCards Summary for NRXN1 Gene

NRXN1 (Neurexin 1) is a Protein Coding gene. Diseases associated with NRXN1 include Pitt-Hopkins-Like Syndrome 2 and Chromosome 2P16.3 Deletion Syndrome. Among its related pathways are Transmission across Chemical Synapses and Protein-protein interactions at synapses. Gene Ontology (GO) annotations related to this gene include calcium ion binding and receptor activity. An important paralog of this gene is NRXN2.

UniProtKB/Swiss-Prot for NRXN1 Gene

  • Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)-triggered exocytosis of secretory granules in pituitary gland. They may effect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their calcium-dependent interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latrotoxin from spider venom (By similarity).

  • Neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins. May play a role in formation or maintenance of synaptic junctions. May mediate intracellular signaling. May play a role in angiogenesis (By similarity).

Gene Wiki entry for NRXN1 Gene

Additional gene information for NRXN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NRXN1 Gene

Genomics for NRXN1 Gene

GeneHancer (GH) Regulatory Elements for NRXN1 Gene

Promoters and enhancers for NRXN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I051031 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 555.5 +193.1 193095 1.5 SP1 MXI1 POLR2A POU5F1 ZNF143 SIN3A MIER2 REST NRXN1 GC02P051032 LOC730100
GH02I050347 Promoter 0.7 EPDnew 550 +877.8 877750 0.1 MXI1 POLR2A EZH2 NRXN1 GC02P050161 GC02M050540 GC02M050541
GH02I050865 Enhancer 0.5 FANTOM5 dbSUPER 23.7 +360.1 360131 0.5 NRXN1 PIR60485 GC02M050956
GH02I051000 Enhancer 0.4 ENCODE 17.5 +224.4 224423 0.5 POU5F1 RCOR1 NRXN1 LOC730100 GC02M050973 GC02M050985
GH02I051003 Enhancer 0.4 Ensembl 12.1 +221.8 221774 0.4 SP1 ETS1 LOC730100 NRXN1 GC02M050973 GC02M050985
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NRXN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NRXN1 gene promoter:

Genomic Locations for NRXN1 Gene

Genomic Locations for NRXN1 Gene
chr2:49,918,505-51,225,575
(GRCh38/hg38)
Size:
1,307,071 bases
Orientation:
Minus strand
chr2:50,145,643-51,259,674
(GRCh37/hg19)

Genomic View for NRXN1 Gene

Genes around NRXN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NRXN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NRXN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NRXN1 Gene

Proteins for NRXN1 Gene

  • Protein details for NRXN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58400-NRX1B_HUMAN
    Recommended name:
    Neurexin-1-beta
    Protein Accession:
    P58400
    Secondary Accessions:
    • E7ETA5

    Protein attributes for NRXN1 Gene

    Size:
    472 amino acids
    Molecular mass:
    50424 Da
    Quaternary structure:
    • The cytoplasmic C-terminal region binds to CASK. Binds NLGN1, NLGN2 and NLGN3, DAG1 (alpha-dystroglycan) and alpha-latrotoxin. Binding to neuroligins is calcium-dependent, and the binding preference ranks as follow: NLGN1 > NLGN4 >> NLGN3 > NLGN2 (By similarity). Interacts with CBLN2 and more weakly with CBLN4 (By similarity). Interacts with CBLN1; interaction is CBLN1 hexamer form-dependent; CBLN1-binding is calcium-independent; isoform 1b does not interact with CBLN1 (PubMed:27418511).
    SequenceCaution:
    • Sequence=AF064842; Type=Frameshift; Positions=54; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NRXN1 Gene

    Alternative splice isoforms for NRXN1 Gene

  • Protein details for NRXN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULB1-NRX1A_HUMAN
    Recommended name:
    Neurexin-1
    Protein Accession:
    Q9ULB1
    Secondary Accessions:
    • A7KRL9
    • O60323
    • Q53TJ9
    • Q53TQ1
    • Q5HYI0
    • Q9C079
    • Q9C080
    • Q9C081
    • Q9H3M2
    • Q9UDM6

    Protein attributes for NRXN1 Gene

    Size:
    1477 amino acids
    Molecular mass:
    161883 Da
    Quaternary structure:
    • Interacts (via laminin G-like domain 2 and/or laminin G-like domain 6) with NLGN1 forming a heterotetramer, where one NLGN1 dimer interacts with one NRXN1 dimer. Interacts (via laminin G-like domain 2 and/or laminin G-like domain 6) with NLGN1, NLGN2, NLGN3, NLGN4X and NLGN4Y; these interactions are calcium-dependent. Interacts (via laminin G-like domain 2) with NXPH1 and NXPH3. Interacts with CBLN1, CBLN2 and, less avidly, with CBLN4 (By similarity). Interacts with LRRTM1, LRRTM2, LRRTM3 and LRRTM4 (By similarity). Alpha-type isoforms (neurexin-1-alpha) interact (via laminin G-like domain 2 and/or laminin G-like domain 6) with DAG1 (via alpha-dystroglycan chain). Alpha-type isoforms interact with alpha-latrotoxin from spider venom. The cytoplasmic C-terminal region binds to CASK, CASKIN1 and APBA1. Interacts with SYT13 and SYTL1 (By similarity).
    SequenceCaution:
    • Sequence=BAA25504.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for NRXN1 Gene

neXtProt entry for NRXN1 Gene

Post-translational modifications for NRXN1 Gene

Other Protein References for NRXN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NRXN1 Gene

Domains & Families for NRXN1 Gene

Gene Families for NRXN1 Gene

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

Suggested Antigen Peptide Sequences for NRXN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULB1

UniProtKB/Swiss-Prot:

NRX1A_HUMAN :
  • Belongs to the neurexin family.
Family:
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with NRXN1: view

Function for NRXN1 Gene

Molecular function for NRXN1 Gene

GENATLAS Biochemistry:
rat neurexin I alpha homolog longer form cell-surface protein,also coding for the shorter beta neurexin I form,both with multiple alternatively spliced isoforms and a CCG repeat in 5utr,binding the potent excitatory neurotoxin alpha-latrotoxin,potentially involved in neuronal cell adhesion and intercellular signaling
UniProtKB/Swiss-Prot Function:
Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)-triggered exocytosis of secretory granules in pituitary gland. They may effect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their calcium-dependent interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latrotoxin from spider venom (By similarity).
UniProtKB/Swiss-Prot Function:
Neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins. May play a role in formation or maintenance of synaptic junctions. May mediate intracellular signaling. May play a role in angiogenesis (By similarity).

Phenotypes From GWAS Catalog for NRXN1 Gene

Gene Ontology (GO) - Molecular Function for NRXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 1621094
GO:0004888 transmembrane signaling receptor activity ISS --
GO:0005102 receptor binding ISS --
GO:0005105 type 1 fibroblast growth factor receptor binding IDA --
GO:0005246 calcium channel regulator activity IEA,ISS --
genes like me logo Genes that share ontologies with NRXN1: view
genes like me logo Genes that share phenotypes with NRXN1: view

Human Phenotype Ontology for NRXN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NRXN1 Gene

MGI Knock Outs for NRXN1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NRXN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NRXN1 Gene

Localization for NRXN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NRXN1 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction, synapse. Note=Localized on the pre-synaptic membrane. {ECO:0000250}.

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 NRXN1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
nucleus 3
extracellular 2
mitochondrion 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NRXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005783 endoplasmic reticulum ISS --
GO:0005886 plasma membrane TAS,ISS --
GO:0005887 integral component of plasma membrane TAS 1621094
GO:0009986 cell surface IDA,ISS 21424692
genes like me logo Genes that share ontologies with NRXN1: view

Pathways & Interactions for NRXN1 Gene

genes like me logo Genes that share pathways with NRXN1: view

SIGNOR curated interactions for NRXN1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NRXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS --
GO:0007158 neuron cell-cell adhesion TAS 18923512
GO:0007165 signal transduction ISS --
GO:0007268 chemical synaptic transmission ISS,IEA --
genes like me logo Genes that share ontologies with NRXN1: view

Drugs & Compounds for NRXN1 Gene

(4) Drugs for NRXN1 Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Citrate Approved Pharma Target, agonist 0
Calcium Phosphate Approved Pharma Target, agonist 0
antipsychotics Pharma 0

(1) Additional Compounds for NRXN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NRXN1: view

Transcripts for NRXN1 Gene

Unigene Clusters for NRXN1 Gene

Neurexin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NRXN1

Alternative Splicing Database (ASD) splice patterns (SP) for NRXN1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f
SP1: - - - -
SP2: - - - -
SP3: - - - - -
SP4: - -
SP5: -
SP6:

Relevant External Links for NRXN1 Gene

GeneLoc Exon Structure for
NRXN1
ECgene alternative splicing isoforms for
NRXN1

Expression for NRXN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NRXN1 Gene

mRNA differential expression in normal tissues according to GTEx for NRXN1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.4), Brain - Anterior cingulate cortex (BA24) (x5.7), Brain - Cerebellar Hemisphere (x5.1), and Brain - Cortex (x5.1).

Protein differential expression in normal tissues from HIPED for NRXN1 Gene

This gene is overexpressed in Frontal cortex (28.8), Fetal Brain (25.5), and Cerebrospinal fluid (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NRXN1 Gene



Protein tissue co-expression partners for NRXN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NRXN1 Gene:

NRXN1

SOURCE GeneReport for Unigene cluster for NRXN1 Gene:

Hs.637685

mRNA Expression by UniProt/SwissProt for NRXN1 Gene:

P58400-NRX1B_HUMAN
Tissue specificity: Brain.

Evidence on tissue expression from TISSUES for NRXN1 Gene

  • Nervous system(5)
  • Heart(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NRXN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • lip
  • mouth
  • salivary gland
  • tongue
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NRXN1: view

Primer Products

Orthologs for NRXN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NRXN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 99 (a)
OneToMany
NRXN1 33
  • 93.4 (n)
chimpanzee
(Pan troglodytes)
Mammalia NRXN1 33
  • 99.63 (n)
oppossum
(Monodelphis domestica)
Mammalia NRXN1 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NRXN1 33 34
  • 94.8 (n)
mouse
(Mus musculus)
Mammalia Nrxn1 33 16 34
  • 92.04 (n)
rat
(Rattus norvegicus)
Mammalia Nrxn1 33
  • 91.86 (n)
chicken
(Gallus gallus)
Aves NRXN1 33 34
  • 84.96 (n)
lizard
(Anolis carolinensis)
Reptilia NRXN1 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nrxn1 33
  • 79.64 (n)
zebrafish
(Danio rerio)
Actinopterygii nrxn1a 33 34
  • 72.92 (n)
nrxn1b 34
  • 71 (a)
OneToMany
nrxn2b 34
  • 48 (a)
OneToMany
Dr.19533 33
fruit fly
(Drosophila melanogaster)
Insecta Nrx-1 35 34
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea nrx-1 33 34
  • 44.29 (n)
C29A12.4 35
  • 27 (a)
Species where no ortholog for NRXN1 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 NRXN1 Gene

ENSEMBL:
Gene Tree for NRXN1 (if available)
TreeFam:
Gene Tree for NRXN1 (if available)

Paralogs for NRXN1 Gene

Variants for NRXN1 Gene

Sequence variations from dbSNP and Humsavar for NRXN1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs10188340 likely-benign, Pitt-Hopkins-like syndrome 51,029,156(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1045874 conflicting-interpretations-of-pathogenicity, benign, not specified, Pitt-Hopkins-like syndrome 51,027,763(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs1045881 benign, Pitt-Hopkins-like syndrome 49,921,834(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057518563 uncertain-significance, Pitt-Hopkins-like syndrome 2, not specified 51,028,124(-) G/A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant
rs1057519409 likely-benign, Ovarian dysgenesis 3 51,028,112(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NRXN1 Gene

Variant ID Type Subtype PubMed ID
esv3590731 CNV loss 21293372
esv3590732 CNV loss 21293372
esv3590733 CNV loss 21293372
esv3590734 CNV loss 21293372
esv3590736 CNV loss 21293372
esv3590737 CNV loss 21293372
esv3590738 CNV loss 21293372
esv3590739 CNV loss 21293372
esv3590740 CNV loss 21293372
nsv581849 CNV loss 21841781
nsv581850 CNV loss 21841781
nsv581853 CNV loss 21841781
nsv581856 CNV loss 21841781
nsv581857 CNV loss 21841781
nsv581858 CNV loss 21841781
nsv581860 CNV gain 21841781
nsv581861 CNV loss 21841781
nsv581863 CNV loss 21841781
nsv581864 CNV loss 21841781
nsv581865 CNV loss 21841781
nsv581848 CNV loss 21841781
nsv581847 CNV loss 21841781
nsv581846 CNV loss 21841781
nsv581845 CNV loss 21841781
nsv581841 CNV loss 21841781
nsv581840 CNV gain 21841781
nsv581839 CNV loss 21841781
nsv581838 CNV loss 21841781
nsv581837 CNV loss 21841781
nsv528678 CNV loss 19592680
nsv528430 CNV loss 19592680
nsv528417 CNV loss 19592680
nsv527569 CNV loss 19592680
nsv526822 CNV loss 19592680
nsv525262 CNV loss 19592680
nsv523833 CNV loss 19592680
nsv523528 CNV loss 19592680
nsv523020 CNV loss 19592680
nsv522899 CNV loss 19592680
nsv522125 CNV loss 19592680
nsv521027 CNV loss 19592680
nsv520225 CNV loss 19592680
nsv508084 OTHER sequence alteration 20534489
nsv508083 OTHER sequence alteration 20534489
nsv476484 CNV novel sequence insertion 20440878
nsv473817 CNV novel sequence insertion 20440878
nsv473530 CNV novel sequence insertion 20440878
nsv470462 CNV loss 18288195
nsv470460 CNV loss 18288195
nsv470459 CNV loss 18288195
nsv457629 CNV loss 19166990
nsv457618 CNV loss 19166990
nsv457596 CNV loss 19166990
nsv457585 CNV loss 19166990
nsv2724 CNV deletion 18451855
nsv1160793 CNV duplication 26073780
nsv1148033 CNV deletion 26484159
nsv1144897 CNV deletion 24896259
nsv1120373 CNV tandem duplication 24896259
nsv1109246 CNV deletion 24896259
nsv1015006 CNV loss 25217958
nsv1011144 CNV loss 25217958
nsv1010926 CNV loss 25217958
nsv1009557 CNV loss 25217958
nsv1005884 CNV gain 25217958
nsv1005293 CNV loss 25217958
nsv1005099 CNV loss 25217958
nsv1004917 CNV loss 25217958
nsv1004550 CNV loss 25217958
nsv1003377 CNV loss 25217958
nsv1002086 CNV loss 25217958
nsv1001589 CNV loss 25217958
nsv1000712 CNV loss 25217958
nsv1000302 CNV loss 25217958
nsv1000087 CNV loss 25217958
nsv1000086 CNV loss 25217958
esv993206 CNV loss 20482838
esv987833 CNV deletion 20482838
esv9183 OTHER inversion 19470904
esv3892237 CNV loss 25118596
esv3892226 CNV loss 25118596
esv3892215 CNV loss 25118596
esv3892181 CNV loss 25118596
esv3892170 CNV loss 25118596
esv3892159 CNV loss 25118596
esv3892148 CNV loss 25118596
esv3892137 CNV loss 25118596
esv3892126 CNV loss 25118596
esv3590744 CNV loss 21293372
esv3590743 CNV loss 21293372
esv3590742 CNV loss 21293372
esv3590730 CNV loss 21293372
esv3590728 CNV loss 21293372
esv3590724 CNV loss 21293372
esv3590723 CNV loss 21293372
esv3590722 CNV loss 21293372
esv3590721 CNV loss 21293372
esv3590720 CNV loss 21293372
esv3590719 CNV loss 21293372
esv3590716 CNV loss 21293372
esv3590714 CNV loss 21293372
esv3590709 CNV loss 21293372
esv3583808 CNV loss 25503493
esv3583807 CNV loss 25503493
esv3583806 CNV loss 25503493
esv3583803 CNV loss 25503493
esv3583799 CNV loss 25503493
esv3583798 CNV loss 25503493
esv3583797 CNV loss 25503493
esv3556633 CNV deletion 23714750
esv3556611 CNV deletion 23714750
esv3556544 CNV deletion 23714750
esv3444728 CNV insertion 20981092
esv34150 CNV loss 18971310
esv3396271 CNV insertion 20981092
esv3304812 CNV mobile element insertion 20981092
esv3303636 CNV mobile element insertion 20981092
esv28897 CNV loss 19812545
esv2844347 CNV deletion 24192839
esv2763321 CNV loss 21179565
esv2762560 CNV loss 21179565
esv2762253 CNV loss 21179565
esv2760603 CNV loss 21179565
esv2759047 CNV loss 17122850
esv275348 CNV loss 21479260
esv2751896 CNV loss 17911159
esv2720049 CNV deletion 23290073
esv2720048 CNV deletion 23290073
esv2720047 CNV deletion 23290073
esv2720046 CNV deletion 23290073
esv2720045 CNV deletion 23290073
esv2720044 CNV deletion 23290073
esv2676871 CNV deletion 23128226
esv2676848 CNV deletion 23128226
esv2673826 CNV deletion 23128226
esv2673816 CNV deletion 23128226
esv2670635 CNV deletion 23128226
esv2669934 CNV deletion 23128226
esv2661557 CNV deletion 23128226
dgv694e214 CNV loss 21293372
dgv6866n54 CNV loss 21841781
dgv6865n54 CNV loss 21841781
dgv6864n54 CNV loss 21841781
dgv6863n54 CNV loss 21841781
dgv628n67 CNV loss 20364138
dgv627n67 CNV loss 20364138
dgv3813n100 CNV loss 25217958
dgv3812n100 CNV loss 25217958
dgv3811n100 CNV loss 25217958
dgv3810n100 CNV loss 25217958
dgv3809n100 CNV loss 25217958
dgv3808n100 CNV loss 25217958
dgv1908n106 OTHER inversion 24896259
dgv1123e212 CNV loss 25503493
dgv1122e212 CNV loss 25503493
nsv997806 CNV loss 25217958
nsv9724 CNV loss 18304495
nsv961407 CNV duplication 23825009
nsv953124 CNV duplication 24416366
nsv834014 CNV loss 17160897
nsv829264 CNV gain 20364138
nsv817895 CNV loss 17921354
nsv581866 CNV loss 21841781

Variation tolerance for NRXN1 Gene

Residual Variation Intolerance Score: 2.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NRXN1 Gene

Human Gene Mutation Database (HGMD)
NRXN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NRXN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NRXN1 Gene

Disorders for NRXN1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for NRXN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NRXN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NRX1A_HUMAN
  • Pitt-Hopkins-like syndrome 2 (PTHSL2) [MIM:614325]: A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. Other features include decreased reflexes in the upper extremities, constipation, strabismus, and protruding tongue with drooling. In contrast to patients with Pitt-Hopkins syndrome, PTHSL2 patients present with normal or only mildly to moderately delayed motor milestones. {ECO:0000269 PubMed:19896112}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NRXN1

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 NRXN1: view

No data available for Genatlas for NRXN1 Gene

Publications for NRXN1 Gene

  1. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. (PMID: 20468056) Ching MS … Children's Hospital Boston Genotype Phenotype Study Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 22 44 58
  2. Association between neurexin 1 (NRXN1) polymorphisms and the smoking behavior of elderly Japanese. (PMID: 20414139) Sato N … Sugimura H (Psychiatric genetics 2010) 3 22 44 58
  3. Copy number variation in schizophrenia in the Japanese population. (PMID: 19880096) Ikeda M … Iwata N (Biological psychiatry 2010) 3 22 44 58
  4. Disruption of the neurexin 1 gene is associated with schizophrenia. (PMID: 18945720) Rujescu D … Collier DA (Human molecular genetics 2009) 3 22 44 58
  5. Association of a polymorphism in the NRXN3 gene with the degree of smoking in schizophrenia: a preliminary study. (PMID: 19658047) Novak G … Le Foll B (The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2009) 3 22 44 58

Products for NRXN1 Gene

Sources for NRXN1 Gene

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