NLGN4X Chromosome X
Neuroligin 4 X-linked
Upload your DNA to see your personal genotypes for variants in NLGN4X.
What This Gene Does
This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to 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. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Neuroligins
Locus Type
gene with protein product
Location
Xp22.32-p22.31
Ensembl
ENSG00000146938
Associated Conditions (6)
Inborn genetic diseases
NLGN4X-related disorder
Autism
susceptibility to
X-linked 2
X-linked intellectual disability
Key Variants
RS149512448
Conflicting classifications of pathogenicity
Health Risk
RS182247389
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201534650
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369832792
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS398124365
Conflicting classifications of pathogenicity
NLGN4X-related disorder, NLGN4X-related disorder
Health Risk
RS398124367
Conflicting classifications of pathogenicity
Health Risk
RS4995611
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autism, susceptibility to
Health Risk
RS750826324
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS778014568
Conflicting classifications of pathogenicity
Health Risk
RS9785509
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS9785605
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2147218789
Likely pathogenic
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149512448 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182247389 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201534650 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369832792 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS398124365 | Health Risk | Conflicting classifications of pathogenicity | NLGN4X-related disorder, NLGN4X-related disorder |
| RS398124367 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS4995611 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autism, susceptibility to |
| RS750826324 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778014568 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS9785509 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS9785605 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2147218789 | Health Risk | Likely pathogenic | — |
| RS2518474197 | Health Risk | Likely pathogenic | Autism, susceptibility to, X-linked 2 |
| RS1555913640 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2146733599 | Health Risk | Pathogenic | — |
| RS2519421361 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519421979 | Health Risk | Pathogenic | — |
| RS756651509 | Health Risk | Pathogenic | Autism, susceptibility to, X-linked 2 |
| RS1569118680 | Health Risk | Pathogenic; risk factor | Autism, susceptibility to, X-linked 2 |
| RS1569118853 | Health Risk | risk factor | Autism, susceptibility to, X-linked 2 |