NRXN2 - neurexin 2 Gene
Species: Homo sapiens
About NRXN2
This gene has 20 transcripts (splice variants), 291 orthologues, 35 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 25.4), testis (RPKM 3.9) and 2 other tissues.
Summary
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 Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_001376262.1 | NP_001363191.1 | neurexin-2-beta isoform 4 precursor |
| NM_001376263.1 | NP_001363192.1 | neurexin-2-beta isoform 5 precursor |
| NM_001376265.1 | NP_001363194.1 | neurexin-2-beta isoform 7 precursor |
| NM_001376266.1 | NP_001363195.1 | neurexin-2-beta isoform 6 precursor |
| NM_001376267.1 | NP_001363196.1 | neurexin-2-beta isoform 8 precursor |
| NM_001400681.1 | NP_001387610.1 | neurexin-2-beta isoform 9 |
| NM_001400682.1 | NP_001387611.1 | neurexin-2-beta isoform 10 |
| NM_015080.4 | NP_055895.1 | neurexin-2-beta isoform alpha-1 precursor |
| NM_138732.3 | NP_620060.1 | neurexin-2-beta isoform alpha-2 precursor |
| NM_138734.3 | NP_620063.1 | neurexin-2-beta isoform beta precursor |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in adult behavior |
IMP
IMP: Inferred from mutant phenotype
|
21424692 | GOA |
| involved in social behavior |
IMP
IMP: Inferred from mutant phenotype
|
21424692 | GOA |
| involved in vocal learning |
IMP
IMP: Inferred from mutant phenotype
|
21424692 | GOA |
| involved in vocalization behavior |
IMP
IMP: Inferred from mutant phenotype
|
21424692 | GOA |
NRXN2 Protein Structure
Laminin_G_2: Laminin G domain (57 - 186)
Laminin_G_2: Laminin G domain (318 - 458)
Laminin_G_2: Laminin G domain (521 - 666)
Laminin_G_2: Laminin G domain (760 - 890)
Laminin_G_2: Laminin G domain (946 - 1074)
Laminin_G_2: Laminin G domain (1169 - 1317)
Syndecan: Syndecan domain (1636 - 1674)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1712 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
neurexin-2-beta |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Pitt-Hopkins-Like Syndrome 2 |
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| Pitt-Hopkins-Like Syndrome 1 |
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| Childhood Disintegrative Disease |
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| Autism Spectrum Disorder |
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| Tic Disorder |
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| Syndromic X-Linked Intellectual Disability Najm Type |
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| Pervasive Developmental Disorder |
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| Phelan-Mcdermid Syndrome |
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| Gilles De La Tourette Syndrome |
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| Autism |
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| Pitt-Hopkins Syndrome |
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| Specific Developmental Disorder |
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| Psychotic Disorder |
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| Attention Deficit-Hyperactivity Disorder |
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| Syndromic Intellectual Disability |
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| West Syndrome |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | NRXN2 | VGNC | VGNC:32271 |
| Felis catus | NRXN2 | VGNC | VGNC:104316 |
| Canis familiaris | NRXN2 | VGNC | VGNC:43979 |
| Rattus norvegicus | NRXN2 | RGD | RGD:620211 |
| Macaca mulatta | NRXN2 | VGNC | VGNC:75534 |
| Mus musculus | NRXN2 | MGD | MGI:1096362 |
| Others | NRXN2 | NCBI |