ORC4
Chr 2ARorigin recognition complex subunit 4
Also known as: ORC4L, ORC4P
ORC4 encodes a component of the origin recognition complex that binds to origins of DNA replication in an ATP-dependent manner and is required for assembly of the pre-replication complex necessary to initiate DNA replication. Biallelic mutations cause Meier-Gorlin syndrome 2, characterized by microcephaly, short stature, and small ears, with an autosomal recessive inheritance pattern. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with the recessive disease mechanism.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ORC4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools