DIP2A

Chr 21

DIP2 acetate--CoA ligase A

Also known as: C21orf106, DIP2

NCBI Gene: 23181 ENSG00000160305 UniProt: Q14689 OMIM: 607711

DIP2A encodes a protein that catalyzes acetyl-CoA synthesis and promotes dendritic spine morphology and synaptic transmission, while also functioning as a cell surface receptor for follistatin-related protein FSTL1. Mutations cause autosomal recessive intellectual disability with seizures and brain abnormalities. This gene is highly constrained against loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.35

LOEUF

Mechanism· predicted