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Aliases for NRXN3 Gene

Aliases for NRXN3 Gene

  • Neurexin 3 2 3 5
  • Neurexin-3-Alpha 3 4
  • C14orf60 3 4
  • Chromosome 14 Open Reading Frame 60 2
  • Neurexin III-Alpha 4
  • Neurexin III-Beta 4
  • Neurexin III 3
  • KIAA0743 4

External Ids for NRXN3 Gene

Previous HGNC Symbols for NRXN3 Gene

  • C14orf60

Previous GeneCards Identifiers for NRXN3 Gene

  • GC14P076216
  • GC14P072687
  • GC14P076699
  • GC14P077779
  • GC14P077940
  • GC14P078871
  • GC14P059035
  • GC14P078710
  • GC14P078170

Summaries for NRXN3 Gene

Entrez Gene Summary for NRXN3 Gene

  • This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]

GeneCards Summary for NRXN3 Gene

NRXN3 (Neurexin 3) is a Protein Coding gene. Diseases associated with NRXN3 include Autism Spectrum Disorder and Borderline Personality Disorder. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses. GO annotations related to this gene include receptor activity and cell adhesion molecule binding. An important paralog of this gene is NRXN1.

UniProtKB/Swiss-Prot for NRXN3 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. May play a role in angiogenesis (By similarity).

Gene Wiki entry for NRXN3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NRXN3 Gene

Genomics for NRXN3 Gene

Regulatory Elements for NRXN3 Gene

Enhancers for NRXN3 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
GH14G077988 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -32.7 -32676 1.4 CTCF PKNOX1 ATF1 BHLHE40 REST ATF2 FOSL1 JUND POLR2A MLLT1 NRXN3 LOC105370581
GH14G078320 0.8 ENCODE 9.9 +298.7 298655 0.2 HDAC1 LEF1 TBL1XR1 TAL1 CCNT2 TCF12 FOXM1 ZNF766 POLR2A GATA2 NRXN3 GC14P078288 PIR33368
GH14G078164 0.6 ENCODE 10.3 +142.7 142665 0.1 CTCF ESRRA MIER2 REST RAD21 CTBP1 JUND EGR1 SMC3 NRXN3 GC14M077970 GC14P078146
GH14G078134 0.6 ENCODE 10.2 +113.8 113835 1.2 FOSL1 ARID1B JUND ATF3 MAFG FOS NFE2 SPI1 NRXN3 GC14P078146 FXNP1
GH14G078202 0.4 ENCODE 11.2 +181.3 181323 1.0 ZNF589 ZNF175 NRXN3 RNA5SP388 GC14M078178 RPS26P48
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NRXN3 on UCSC Golden Path with GeneCards custom track

Genomic Location for NRXN3 Gene

Chromosome:
14
Start:
78,021,758 bp from pter
End:
79,868,290 bp from pter
Size:
1,846,533 bases
Orientation:
Plus strand

Genomic View for NRXN3 Gene

Genes around NRXN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NRXN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NRXN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NRXN3 Gene

Proteins for NRXN3 Gene

  • Protein details for NRXN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HDB5-NRX3B_HUMAN
    Recommended name:
    Neurexin-3-beta
    Protein Accession:
    Q9HDB5
    Secondary Accessions:
    • A5PKW8
    • A8MPU5
    • B3KPM7
    • Q6NUR0
    • Q8IUD8

    Protein attributes for NRXN3 Gene

    Size:
    637 amino acids
    Molecular mass:
    69305 Da
    Quaternary structure:
    • The cytoplasmic C-terminal region binds to CASK (By similarity). Binds to neuroligins NLGN1, NLGN2 and NLGN3 (By similarity). Weakly interacts with CBLN1 and CBLN2. Very weak binding, if any, with CBLN4 (By similarity).

    Alternative splice isoforms for NRXN3 Gene

  • Protein details for NRXN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4C0-NRX3A_HUMAN
    Recommended name:
    Neurexin-3
    Protein Accession:
    Q9Y4C0
    Secondary Accessions:
    • A6NGR4
    • A7MD34
    • O95378
    • Q8IUE3
    • Q9NS47
    • Q9P1V3
    • Q9P1V6
    • Q9UIE2
    • Q9UIE3
    • Q9ULA5
    • Q9Y486

    Protein attributes for NRXN3 Gene

    Size:
    1643 amino acids
    Molecular mass:
    180599 Da
    Quaternary structure:
    • The laminin G-like domain 2 binds to NXPH1. Specific isoforms bind to alpha-dystroglycan. The cytoplasmic C-terminal region binds to CASK (By similarity).
    SequenceCaution:
    • Sequence=BAA34463.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for NRXN3 Gene

neXtProt entry for NRXN3 Gene

Post-translational modifications for NRXN3 Gene

  • Proccessed by alpha-secretase leading to the formation of an extracellular soluble protein as well as a C-terminal membrane-embedded fragment (CTF). Proteolysis of these CTFs by gamma-secretase releases intracellular domains (ICDs) and extracellular peptides.
  • Glycosylation at posLast=184184, Asn252, and posLast=296296
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn58, posLast=105105, Asn757, posLast=11891189, Asn1257, and Asn1301

No data available for DME Specific Peptides for NRXN3 Gene

Domains & Families for NRXN3 Gene

Suggested Antigen Peptide Sequences for NRXN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4C0

UniProtKB/Swiss-Prot:

NRX3A_HUMAN :
  • Belongs to the neurexin family.
Family:
  • Belongs to the neurexin family.
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with NRXN3: view

No data available for Gene Families for NRXN3 Gene

Function for NRXN3 Gene

Molecular function for NRXN3 Gene

GENATLAS Biochemistry:
rat neurexin III alpha homolog longer form,also coding for the shorter beta neurexin III form,both with multiple alternatively spliced isoforms,potentially involved in neuronal cell adhesion and intercellular signaling,(see also CASPR)
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. May play a role in angiogenesis (By similarity).

Gene Ontology (GO) - Molecular Function for NRXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 1621094
GO:0004888 transmembrane signaling receptor activity NAS --
GO:0005246 calcium channel regulator activity IEA --
GO:0046872 metal ion binding IEA --
GO:0050839 cell adhesion molecule binding TAS 18923512
genes like me logo Genes that share ontologies with NRXN3: view

Phenotypes for NRXN3 Gene

GenomeRNAi human phenotypes for NRXN3:
genes like me logo Genes that share phenotypes with NRXN3: view

Animal Model Products

miRNA for NRXN3 Gene

miRTarBase miRNAs that target NRXN3

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NRXN3 Gene

Localization for NRXN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NRXN3 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 NRXN3 gene
Compartment Confidence
plasma membrane 5
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NRXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1621094
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043234 protein complex IEA --
genes like me logo Genes that share ontologies with NRXN3: view

Pathways & Interactions for NRXN3 Gene

genes like me logo Genes that share pathways with NRXN3: view

Pathways by source for NRXN3 Gene

SIGNOR curated interactions for NRXN3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NRXN3 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 NAS --
GO:0007268 chemical synaptic transmission IEA --
GO:0007269 neurotransmitter secretion IEA --
genes like me logo Genes that share ontologies with NRXN3: view

Drugs & Compounds for NRXN3 Gene

No Compound Related Data Available

Transcripts for NRXN3 Gene

Unigene Clusters for NRXN3 Gene

Neurexin 3:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NRXN3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b
SP1: - - - - - - - -
SP2: - - - - -
SP3:
SP4: - - -
SP5: - - -
SP6:

Relevant External Links for NRXN3 Gene

GeneLoc Exon Structure for
NRXN3
ECgene alternative splicing isoforms for
NRXN3

Expression for NRXN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NRXN3 Gene

mRNA differential expression in normal tissues according to GTEx for NRXN3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x9.8) and Brain - Cerebellum (x7.3).

Protein differential expression in normal tissues from HIPED for NRXN3 Gene

This gene is overexpressed in Milk (31.7), Cerebrospinal fluid (19.5), and Serum (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NRXN3 Gene



NURSA nuclear receptor signaling pathways regulating expression of NRXN3 Gene:

NRXN3

SOURCE GeneReport for Unigene cluster for NRXN3 Gene:

Hs.368307

mRNA Expression by UniProt/SwissProt for NRXN3 Gene:

Q9HDB5-NRX3B_HUMAN
Tissue specificity: Expressed in the blood vessel walls (at protein level). Highly expressed in brain, lung, and pancreas; a lower level of expression is detectable in heart, placenta, liver, and kidney, whereas no expression can be observed in skeletal muscle. Isoform 4a is heart-specific.

Evidence on tissue expression from TISSUES for NRXN3 Gene

  • Nervous system(4.8)
  • Heart(4.1)
  • Stomach(4)
genes like me logo Genes that share expression patterns with NRXN3: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NRXN3 Gene

Orthologs for NRXN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NRXN3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
OneToMany
-- 35
  • 45 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 79 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
-- 35
  • 44 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 18 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NRXN3 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NRXN3 35
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nrxn3 35
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NRXN3 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves NRXN3 35
  • 81 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 63 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii nrxn3a 35
  • 53 (a)
OneToMany
nrxn3b 35
  • 51 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.609 34
fruit fly
(Drosophila melanogaster)
Insecta Nrx-1 36 35
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea nrx-1 35
  • 17 (a)
OneToMany
Species where no ortholog for NRXN3 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for NRXN3 Gene

ENSEMBL:
Gene Tree for NRXN3 (if available)
TreeFam:
Gene Tree for NRXN3 (if available)

Paralogs for NRXN3 Gene

(6) SIMAP similar genes for NRXN3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NRXN3: view

Variants for NRXN3 Gene

Sequence variations from dbSNP and Humsavar for NRXN3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1057519451 Pathogenic 78,709,310(+) TGTTT(A/G)AGTGT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs531047390 Pathogenic 78,968,349(+) AAGGT(A/G)CAACC intron-variant
rs1000000901 -- 79,642,752(+) GTTCA(C/T)GCCAT intron-variant
rs1000002978 -- 78,642,385(+) AAAAA(-/T)ATTAA intron-variant
rs1000005878 -- 78,232,280(+) GCTCC(A/G)TTAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NRXN3 Gene

Variant ID Type Subtype PubMed ID
dgv1106n106 CNV deletion 24896259
dgv1107n106 CNV deletion 24896259
dgv1108n106 CNV deletion 24896259
dgv134e215 CNV deletion 23714750
dgv13e209 CNV deletion 24192839
dgv1943n100 CNV loss 25217958
dgv3787n54 CNV loss 21841781
dgv3788n54 CNV loss 21841781
dgv3789n54 CNV loss 21841781
dgv378n67 CNV loss 20364138
dgv3790n54 CNV loss 21841781
dgv3791n54 CNV loss 21841781
dgv3792n54 CNV loss 21841781
dgv3793n54 CNV loss 21841781
dgv3794n54 CNV gain+loss 21841781
dgv3795n54 CNV loss 21841781
dgv3796n54 CNV loss 21841781
dgv3797n54 CNV loss 21841781
dgv3798n54 CNV gain+loss 21841781
dgv3799n54 CNV loss 21841781
dgv37n6 CNV deletion 16902084
dgv3800n54 CNV loss 21841781
dgv405e199 CNV deletion 23128226
dgv46e180 CNV deletion 20482838
dgv60n73 CNV deletion 24416366
dgv665e212 CNV loss 25503493
dgv666e212 CNV loss 25503493
esv1335344 CNV deletion 17803354
esv1465114 CNV deletion 17803354
esv1541911 CNV deletion 17803354
esv1996512 CNV deletion 18987734
esv2080567 CNV deletion 18987734
esv22035 CNV gain+loss 19812545
esv22714 CNV loss 19812545
esv2404426 CNV deletion 18987734
esv2421742 CNV deletion 20811451
esv2422026 CNV deletion 20811451
esv2440961 CNV deletion 19546169
esv2471037 CNV insertion 19546169
esv2546858 CNV deletion 19546169
esv25836 CNV loss 19812545
esv26267 CNV loss 19812545
esv2658501 CNV deletion 23128226
esv2661212 CNV deletion 23128226
esv2664382 CNV deletion 23128226
esv2666514 CNV deletion 23128226
esv2666928 CNV deletion 23128226
esv2669148 CNV deletion 23128226
esv2673043 CNV deletion 23128226
esv2674009 CNV deletion 23128226
esv2674347 CNV deletion 23128226
esv2675415 CNV deletion 23128226
esv2675515 CNV deletion 23128226
esv2748910 CNV deletion 23290073
esv2748911 CNV deletion 23290073
esv2748912 CNV deletion 23290073
esv2748913 CNV deletion 23290073
esv2748914 CNV deletion 23290073
esv2748915 CNV deletion 23290073
esv2748916 CNV deletion 23290073
esv2748917 CNV deletion 23290073
esv2748920 CNV deletion 23290073
esv2748921 CNV deletion 23290073
esv2748922 CNV deletion 23290073
esv2760000 CNV gain+loss 17122850
esv2760001 CNV loss 17122850
esv2760350 CNV loss 21179565
esv2761846 CNV loss 21179565
esv28416 CNV loss 19812545
esv28584 CNV loss 19812545
esv28866 CNV loss 19812545
esv3189 CNV loss 18987735
esv3244607 CNV deletion 24192839
esv32903 CNV loss 17666407
esv3305789 CNV mobile element insertion 20981092
esv3309763 CNV mobile element insertion 20981092
esv33123 CNV gain 17666407
esv3374433 CNV duplication 20981092
esv3380628 CNV insertion 20981092
esv34435 CNV loss 17911159
esv3551819 CNV deletion 23714750
esv3551820 CNV deletion 23714750
esv3551821 CNV deletion 23714750
esv3551823 CNV deletion 23714750
esv3551830 CNV deletion 23714750
esv3581319 CNV loss 25503493
esv3581320 CNV loss 25503493
esv3581321 CNV loss 25503493
esv3581322 CNV loss 25503493
esv3581330 CNV loss 25503493
esv3581331 CNV loss 25503493
esv3635029 CNV loss 21293372
esv3635031 CNV loss 21293372
esv3635032 CNV loss 21293372
esv3635034 CNV loss 21293372
esv3635035 CNV loss 21293372
esv3635036 CNV loss 21293372
esv3635037 CNV loss 21293372
esv3635038 CNV loss 21293372
esv3635039 CNV loss 21293372
esv3635042 CNV loss 21293372
esv3635043 CNV loss 21293372
esv3635044 CNV loss 21293372
esv3635045 CNV loss 21293372
esv3635046 CNV loss 21293372
esv3635048 CNV loss 21293372
esv3635049 CNV loss 21293372
esv3635051 CNV loss 21293372
esv3635052 CNV loss 21293372
esv3635055 CNV loss 21293372
esv3635056 CNV loss 21293372
esv3635057 CNV loss 21293372
esv4655 CNV loss 18987735
esv5980 CNV loss 19470904
esv6644 CNV gain 19470904
esv7301 CNV gain 19470904
esv989776 CNV deletion 20482838
esv990720 CNV deletion 20482838
esv992543 CNV deletion 20482838
nsv1037112 CNV loss 25217958
nsv1037999 CNV loss 25217958
nsv1038627 CNV loss 25217958
nsv1041198 CNV loss 25217958
nsv1041991 CNV loss 25217958
nsv1045241 CNV gain 25217958
nsv1045558 CNV gain 25217958
nsv1047433 CNV loss 25217958
nsv1048274 CNV loss 25217958
nsv1052541 CNV loss 25217958
nsv1054051 CNV gain 25217958
nsv1071157 CNV deletion 25765185
nsv1110240 CNV duplication 24896259
nsv1127391 CNV deletion 24896259
nsv1134392 CNV deletion 24896259
nsv1139934 CNV deletion 24896259
nsv1146054 CNV duplication 26484159
nsv1366 CNV deletion 18451855
nsv1367 CNV deletion 18451855
nsv1368 CNV insertion 18451855
nsv1369 CNV insertion 18451855
nsv1370 CNV deletion 18451855
nsv442347 CNV loss 18776908
nsv442348 CNV loss 18776908
nsv471933 CNV novel sequence insertion 20440878
nsv471968 CNV novel sequence insertion 20440878
nsv472656 CNV novel sequence insertion 20440878
nsv474306 CNV novel sequence insertion 20440878
nsv479197 CNV novel sequence insertion 20440878
nsv498833 CNV loss 21111241
nsv511536 CNV loss 21212237
nsv512366 CNV loss 21212237
nsv513413 CNV insertion 21212237
nsv514752 CNV gain 21397061
nsv514753 CNV gain+loss 21397061
nsv514754 CNV loss 21397061
nsv516814 CNV loss 19592680
nsv517018 CNV loss 19592680
nsv518333 CNV loss 19592680
nsv521160 CNV gain 19592680
nsv524797 CNV loss 19592680
nsv526245 CNV loss 19592680
nsv528346 CNV loss 19592680
nsv565235 CNV loss 21841781
nsv565247 CNV loss 21841781
nsv565248 CNV loss 21841781
nsv565284 CNV gain 21841781
nsv819807 CNV gain 19587683
nsv819821 CNV gain 19587683
nsv820296 CNV gain 19587683
nsv820615 CNV deletion 20802225
nsv827002 CNV loss 20364138
nsv827003 CNV loss 20364138
nsv832837 CNV gain 17160897
nsv832838 CNV gain 17160897
nsv84516 CNV deletion 16902084
nsv9157 CNV gain 18304495
nsv957512 CNV deletion 24416366
nsv958751 CNV deletion 24416366
nsv976846 CNV deletion 23825009
nsv983971 CNV deletion 23825009

Variation tolerance for NRXN3 Gene

Residual Variation Intolerance Score: 1.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NRXN3 Gene

Human Gene Mutation Database (HGMD)
NRXN3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NRXN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NRXN3 Gene

Disorders for NRXN3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NRXN3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autism spectrum disorder
  • pervasive development disorder
borderline personality disorder
alcohol dependence
  • alcohol dependence, protection against
- elite association - COSMIC cancer census association via MalaCards
Search NRXN3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NRXN3

Genetic Association Database (GAD)
NRXN3
Human Genome Epidemiology (HuGE) Navigator
NRXN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NRXN3
genes like me logo Genes that share disorders with NRXN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NRXN3 Gene

Publications for NRXN3 Gene

  1. Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity. (PMID: 11944992) Rowen L. … Graveley B.R. (Genomics 2002) 2 3 4 22 64
  2. Identification and characterization of heart-specific splicing of human neurexin 3 mRNA (NRXN3). (PMID: 12379233) Occhi G. … Antonio Danieli G. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 22 64
  3. NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. (PMID: 19557197) Heard-Costa N.L. … North K.E. (PLoS Genet. 2009) 3 22 46 64
  4. 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. (World J. Biol. Psychiatry 2009) 3 22 46 64
  5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira A.R. … Marazita M.L. (Genet. Med. 2008) 3 22 46 64

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