DIP2C

Chr 10

DIP2 acetate--CoA ligase C (putative)

Also known as: KIAA0934

NCBI Gene: 22982 ENSG00000151240 UniProt: Q9Y2E4 OMIM: 611380

The protein is a member of the disco-interacting protein homolog 2 family that shares strong similarity with a Drosophila protein involved in nervous system transcriptional regulation. Mutations cause autosomal recessive intellectual disability with seizures and brain abnormalities. This gene is extremely intolerant to loss-of-function variation, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq

This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.15

LOEUF· LoF intol.

LOF

Mechanism· G2P