Entity Details

Primary name NRXN1
Entity type gene
Source Source Link

Details

PrimaryID9378
RefseqGeneNG_011878
SymbolNRXN1
Nameneurexin 1
Chromosome2
Location2p16.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-19

Ontological Relatives

GO terms

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GOName
GO:0001525 angiogenesis
GO:0004888 transmembrane signaling receptor activity
GO:0005102 signaling receptor binding
GO:0005105 type 1 fibroblast growth factor receptor binding
GO:0005246 calcium channel regulator activity
GO:0005509 calcium ion binding
GO:0005730 nucleolus
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0007158 neuron cell-cell adhesion
GO:0007165 signal transduction
GO:0007268 chemical synaptic transmission
GO:0007269 neurotransmitter secretion
GO:0007411 axon guidance
GO:0007416 synapse assembly
GO:0007612 learning
GO:0009986 cell surface
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010739 positive regulation of protein kinase A signaling
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0021707 cerebellar granule cell differentiation
GO:0023041 neuronal signal transduction
GO:0030139 endocytic vesicle
GO:0030534 adult behavior
GO:0031175 neuron projection development
GO:0031965 nuclear membrane
GO:0031982 vesicle
GO:0033130 acetylcholine receptor binding
GO:0033138 positive regulation of peptidyl-serine phosphorylation
GO:0035176 social behavior
GO:0035418 protein localization to synapse
GO:0038023 signaling receptor activity
GO:0042297 vocal learning
GO:0042734 presynaptic membrane
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0044295 axonal growth cone
GO:0045184 establishment of protein localization
GO:0045743 positive regulation of fibroblast growth factor receptor signaling pathway
GO:0046872 metal ion binding
GO:0048306 calcium-dependent protein binding
GO:0050839 cell adhesion molecule binding
GO:0050885 neuromuscular process controlling balance
GO:0051490 negative regulation of filopodium assembly
GO:0051897 positive regulation of protein kinase B signaling
GO:0051965 positive regulation of synapse assembly
GO:0051968 positive regulation of synaptic transmission, glutamatergic
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0071277 cellular response to calcium ion
GO:0071625 vocalization behavior
GO:0090126 protein-containing complex assembly involved in synapse maturation
GO:0090129 positive regulation of synapse maturation
GO:0097091 synaptic vesicle clustering
GO:0097104 postsynaptic membrane assembly
GO:0097105 presynaptic membrane assembly
GO:0097109 neuroligin family protein binding
GO:0097112 gamma-aminobutyric acid receptor clustering
GO:0097114 NMDA glutamate receptor clustering
GO:0097116 gephyrin clustering involved in postsynaptic density assembly
GO:0097117 guanylate kinase-associated protein clustering
GO:0097118 neuroligin clustering involved in postsynaptic membrane assembly
GO:0097119 postsynaptic density protein 95 clustering
GO:0097120 receptor localization to synapse
GO:0098793 presynapse
GO:0099056 integral component of presynaptic membrane
GO:1900020 positive regulation of protein kinase C activity
GO:1903078 positive regulation of protein localization to plasma membrane
GO:1905520 positive regulation of presynaptic active zone assembly
GO:2000310 regulation of NMDA receptor activity
GO:2000311 regulation of AMPA receptor activity
GO:2000463 positive regulation of excitatory postsynaptic potential

Diseases

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Disease IDSourceNameDescription
614325 OMIMPitt-Hopkins-like syndrome 2 (PTHSL2)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. The disease is caused by variants affecting the gene represented in this entry.
614332 OMIMSchizophrenia 17 (SCZD17)A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. Disease susceptibility may be associated with variants affecting the gene represented in this entry.