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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]
NRXN2 (Neurexin 2) is a Protein Coding gene. Diseases associated with NRXN2 include Childhood Disintegrative Disease and Pitt-Hopkins-Like Syndrome 1. Among its related pathways are Protein-protein interactions at synapses and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA,ISS | -- |
GO:0005246 | calcium channel regulator activity | IEA,ISS | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0050839 | cell adhesion molecule binding | IEA,ISS | -- |
GO:0097109 | neuroligin family protein binding | IEA,ISS | -- |
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:0032991 | protein-containing complex | IEA | -- |
GO:0045202 | synapse | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Protein-protein interactions at synapses | ||
2 | Cell adhesion molecules | ||
3 | Muscular Dystrophies and Dystrophin-Glycoprotein Complex |
Muscular Dystrophies and Dystrophin-Glycoprotein Complex
-
|
|
4 | Transmission across Chemical Synapses |
.62
|
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 | IEA,ISS | -- |
GO:0007268 | chemical synaptic transmission | IEA,ISS | -- |
GO:0007269 | neurotransmitter secretion | IEA,ISS | -- |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NRXN2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NRXN2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NRXN2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nrxn2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nrxn2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NRXN2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NRXN2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NRXN3 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | NRXN2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nrxn2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | NRXN2 (2 of 2) 31 |
|
OneToMany | |
nrxn2b 30 |
|
||||
nrxn2a 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9177 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Nrx-1 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | nrx-1 31 |
|
OneToMany | |
C29A12.4 32 |
|
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
930618 | Uncertain Significance: See cases | 64,653,725(-) |
G/T NM_015080.4(NRXN2):c.2390-3C>A |
INTRON | |
975307 | Likely Benign: Intellectual disability | 64,607,350(-) |
T/C NM_015080.4(NRXN2):c.4985A>G (p.Asn1662Ser) |
MISSENSE | |
975308 | Likely Benign: Intellectual disability | 64,713,247(-) |
G/T NM_015080.4(NRXN2):c.453C>A (p.Phe151Leu) |
MISSENSE | |
978098 | Uncertain Significance: Autistic disorder of childhood onset; Intellectual disability | 64,648,763(-) |
C/T NM_015080.4(NRXN2):c.3254G>A (p.Arg1085His) |
MISSENSE | |
978882 | Uncertain Significance: Intellectual disability | 64,692,874(-) |
G/A NM_015080.4(NRXN2):c.751C>T (p.Pro251Ser) |
MISSENSE |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
childhood disintegrative disease |
|
|
pitt-hopkins-like syndrome 1 |
|
|
kaufman oculocerebrofacial syndrome |
|
|
pervasive developmental disorder |
|
|
autism spectrum disorder |
|
|