NCAPD3

Chr 11AR

non-SMC condensin II complex subunit D3

Also known as: CAP-D3, CAPD3, MCPH22, hCAP-D3, hHCP-6, hcp-6

NCAPD3 encodes a regulatory subunit of the condensin-2 complex that establishes mitotic chromosome architecture and is essential for chromosome condensation and decatenation during cell division, particularly in neuronal stem cells during early neurogenesis. Mutations cause primary microcephaly 22, an autosomal recessive disorder affecting brain development and cortex size. The gene is highly constrained against loss-of-function variants (LOEUF 0.489), reflecting its essential role in normal neurodevelopment.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.491 OMIM phenotype
Clinical SummaryNCAPD3
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.49LOEUF
pLI 0.000
Z-score 5.40
OE 0.36 (0.270.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
-0.73Z-score
OE missense 1.07 (1.011.13)
876 obs / 817.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.36 (0.270.49)
00.351.4
Missense OE1.07 (1.011.13)
00.61.4
Synonymous OE1.24
01.21.6
LoF obs/exp: 30 / 83.1Missense obs/exp: 876 / 817.4Syn Z: -3.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NCAPD3 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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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