DIP2C

Chr 10

DIP2 acetate--CoA ligase C (putative)

Also known as: KIAA0934

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]

0
Active trials
5
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.15
LOEUF· LoF intol.
LOF
Mechanism· G2P
Clinical SummaryDIP2C
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint
0.15LOEUF
pLI 1.000
Z-score 8.01
OE 0.08 (0.040.15)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
4.67Z-score
OE missense 0.58 (0.550.63)
584 obs / 999.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.08 (0.040.15)
00.351.4
Missense OE0.58 (0.550.63)
00.61.4
Synonymous OE1.21
01.21.6
LoF obs/exp: 7 / 88.1Missense obs/exp: 584 / 999.3Syn Z: -3.36
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderateDIP2C-related developmental disorder with speech delayLOFAD
DN
0.3693th %ile
GOF
0.3987th %ile
LOF
0.75top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.15

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DIP2C · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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