NLGN3
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NLGN3 (HGNC:14289) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
neuroligin 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
HNL3, KIAA1480, ASPGX1, AUTSX1
%HI
10.65(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.98(Read more about gnomAD pLI score)
LOEUF
0.31(Read more about gnomAD LOEUF score)
Cytoband
Xq13.1
Genomic Coordinates
GRCh37/hg19: chrX:70364691-70391051 NCBI Ensembl UCSC
GRCh38/hg38: chrX:71144841-71175307 NCBI Ensembl UCSC
MANE Select Transcript
NM_181303.2 ENST00000358741.4 (Read more about MANE Select)
Function
Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By similarity). {ECO:0000250, ECO:0000269|PubMed:15620359}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18758
ClinGen Curation ID:
CCID:007560
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/25/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
No clear loss of function mutations have been reported. Jamain et al (2003) reported two brothers with autism who had a maternally-inherited missense mutation in NLGN3 (R451C) (PMID: 12669065). Functional studies indicate that the protein is retained in the endoplastic reticulum but some synaptic induction activity is present (PMIDs: 15150161, 15152050, 15797875). Blasi et al (2006) found a maternally-inherited non-synonymous sequence change in brothers with autism that was also found in multiple controls (PMID: 16508939) and Talebizadeh et al (2006) reported 9 of 10 autistic females had an aberrant splice variant that was also found in normal individuals and no mutations were identified. Ylisaukko-oja et al. (2005) reported a modest association between NLGN3 and autism but failed to find any mutations in 100 families (PMID: 16077734). Several additional studies screened individuals with autism and found no mutations (PMID;15622415, 18189281, 15274046, and 15389766).
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No focal duplications of NLGN3 have been reported. Kaya et al (2012) report a family with a large duplication at Xq12q13.3 that segregates with autism in three males. Female carriers are normal. However, the duplication contains 139 genes total and the authors speculate on the effect of duplication of NLGN3 (PMID: 22213401).
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)