• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DLG2 (HGNC:2901) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
discs large MAGUK scaffold protein 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PSD-93, PSD93, chapsyn-110, PPP1R58
%HI
1.29(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.71(Read more about gnomAD pLI score)
LOEUF
0.34(Read more about gnomAD LOEUF score)
Cytoband
11q14.1
Genomic Coordinates
GRCh37/hg19: chr11:83166055-85339417 NCBI Ensembl UCSC
GRCh38/hg38: chr11:83455012-85628373 NCBI Ensembl UCSC
MANE Select Transcript
NM_001142699.3 ENST00000376104.7 (Read more about MANE Select)
Function
Required for perception of chronic pain through NMDA receptor signaling. Regulates surface expression of NMDA receptors in dorsal horn neurons of the spinal cord. Interacts with the cytoplasmic tail of NMDA receptor subunits as well as inward rectifying potassium channels. Involved in regulation of synaptic stability at cholinergic synapses. Part of the postsynaptic protein scaffold of excitatory synapses (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10586
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
11/28/2018

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Complex Neurodevelopmental Disorder Monarch
HI Evidence:
  • PUBMED: 21792059
    Sahoo et al. 2011- evaluation of individuals with copy number variants, identified by microarray testing, overlapping known schizophrenia susceptibility loci. Found five instances of partial DLG2 deletions in individuals with varying indications, three had delays.
  • PUBMED: 25055870
    Georgieva et al. 2014 - microarray study of 368 individuals with bipolar disorder, found a de novo partial deletion of DLG2 in a patient with bipolar disorder.
  • PUBMED: 18511947
    Xu et al. 2008 - SNP array done on patients with the only case of schizophrenia in their close family members, found a de novo 269kb partial deletion of DLG2.
HI Evidence Comments:
Partial deletions in DLG2 have been identified in individuals with neurodevelopmental disorders, specifically schizophrenia and other psychiatric illness as well as patients with intellectual disability, autism spectrum disorders and dysmorphic features. However the deletions have also been inherited from unaffected parents in many cases which could suggest incomplete penetrance. In addition, they are commonly observed in control populations and no whole gene deletions or other loss of function mutations have been reported. Therefore the clinical impact of these partial deletions remains uncertain.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence of triplosensitivity

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)