DLGAP2

Chr 8

DLG associated protein 2

Also known as: C8orf68, DAP2, ERICH1-AS1, SAPAP2

NCBI Gene: 9228 ENSG00000198010 UniProt: Q9P1A6 OMIM: 605438

The protein is a membrane-associated protein that organizes synapses and facilitates signaling in neuronal cells. Loss-of-function mutations cause neurodevelopmental disorders with intellectual disability and autism spectrum features, inherited in an autosomal recessive pattern. The high constraint scores (pLI 0.999, LOEUF 0.199) indicate the gene is highly intolerant to loss-of-function variants, consistent with severe developmental phenotypes when both alleles are affected.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt, Mechanism

The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted

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GeneReview available — DLGAP2