DOCK7

Chr 1AR

dedicator of cytokinesis 7

ENSG00000116641UniProt: Q96N67OMIM: 615730

Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity)

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.381 OMIM phenotype
Clinical Summary— DOCK7
🧬
Gene-Disease Validity (ClinGen)
genetic developmental and epileptic encephalopathy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?
0.38LOEUF
pLI 0.000
Z-score 7.25
OE 0.28 (0.22–0.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.42Z-score
OE missense 0.71 (0.67–0.75)
791 obs / 1111.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.28 (0.22–0.38)
0≤0.351.4
Missense OE?0.71 (0.67–0.75)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 34 / 119.5Missense obs/exp: 791 / 1111.9Syn Z: 0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DOCK7 · 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

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients