NLGN3 - neuroligin 3 Gene
Also Known as HNL3
生物種: Homo sapiens
About NLGN3
This gene has 21 transcripts (splice variants), 245 orthologues, 13 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 14.8), adrenal (RPKM 2.6) and 4 other tissues.
Summary
This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009]
NLGN3 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001166660.2 | NP_001160132.1 | neuroligin-3 isoform 3 precursor |
| NM_001321276.2 | NP_001308205.1 | neuroligin-3 isoform 4 |
| NM_018977.4 | NP_061850.2 | neuroligin-3 isoform 2 precursor |
| NM_181303.2 | NP_851820.1 | neuroligin-3 isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17292328 | GOA |
| enables scaffold protein binding |
IPI
IPI: Inferred from physical interaction
|
17292328 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in adult behavior |
IMP
IMP: Inferred from mutant phenotype
|
12669065 | GOA |
| involved in learning |
IMP
IMP: Inferred from mutant phenotype
|
12669065 | GOA |
| involved in social behavior |
IMP
IMP: Inferred from mutant phenotype
|
12669065 | GOA |
| involved in synapse organization |
IMP
IMP: Inferred from mutant phenotype
|
15150161 | GOA |
| involved in vocalization behavior |
IMP
IMP: Inferred from mutant phenotype
|
12669065 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
15150161 | GOA |
| located in excitatory synapse |
IDA
IDA: Inferred from direct assay
|
15620359 | GOA |
NLGN3 Protein Structure
COesterase: Carboxylesterase family (21 - 624)
- 0
- 200
- 400
- 600
- 800
- 848 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
neuroligin-3 |
|
Recombinant NLGN3 Proteins
| 製品番号 | 製品名 | アクセッション番号 | 純度 |
|---|---|---|---|
| HY-P76510 | Neuroligin-3/NLGN3 Protein, Human (HEK293, His, solution) | Q9NZ94-2 (Q38-S689) | ≥ 90%, as determined by reducing SDS-PAGE. |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Autism X-Linked 1 |
|
|
| Asperger Syndrome, X-Linked 1 |
|
|
| Asperger Syndrome |
|
|
| Autism |
|
|
| Pervasive Developmental Disorder |
|
|
| Childhood Disintegrative Disease |
|
|
| Pitt-Hopkins-Like Syndrome 1 |
|
|
| Atypical Autism |
|
|
| Phelan-Mcdermid Syndrome |
|
|
| Autism Spectrum Disorder |
|
|
| Echolalia |
|
|
| Valproate Embryopathy |
|
|
| Gene Duplication Disease |
|
|
| Tic Disorder |
|
|
| Gilles De La Tourette Syndrome |
|
|
| Potocki-Lupski Syndrome |
|
|
| Specific Language Impairment |
|
|
| Stereotypic Movement Disorder |
|
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| Speech Disorder |
|
|
| Specific Developmental Disorder |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Cowden Syndrome |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Rattus norvegicus | NLGN3 | RGD | RGD:621119 |
| Mus musculus | NLGN3 | MGD | MGI:2444609 |
| Bos taurus | NLGN3 | VGNC | VGNC:32110 |
| Canis familiaris | NLGN3 | VGNC | VGNC:43840 |
| Felis catus | NLGN3 | VGNC | VGNC:63823 |
| Others | NLGN3 | NCBI |