DLG2 |
- 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
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.44(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
ClinGen Curation ID:
CCID:006995
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)