DLGAP2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DLGAP2 (HGNC:2906) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
DLG associated protein 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ERICH1-AS1, C8orf68
Alias symbols
DAP-2
%HI
58.64(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.43(Read more about gnomAD LOEUF score)
Cytoband
8p23.3
Genomic Coordinates
GRCh37/hg19: chr8:687628-1656642 NCBI Ensembl UCSC
GRCh38/hg38: chr8:737628-1708476 NCBI Ensembl UCSC
MANE Select Transcript
NM_001346810.2 ENST00000637795.2 (Read more about MANE Select)
Function
May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD- 95/SAP90 at the plasma membrane. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12251
ClinGen Curation ID:
CCID:006998
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:
03/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Ozgen (2009), PMID: 19793310 - Report of a girl with autism spectrum disorder who had a 6.9 Mb deletion that included DLGAP2 and also a 14.1 Mb duplication from 8p21.2p23.1. Pinto (2010), PMID: 20531469 - This is an autism case-control study (996 cases) that found one child with non-syndromic autism who had a 817 kb de novo duplication that partially overlapped the 5' end of DLGAP2 and could potentially interfere with gene function. No functional studies are provided and the duplication was also found in one control patient.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)