ORC4 Chromosome 2
Origin recognition complex subunit 4
Upload your DNA to see your personal genotypes for variants in ORC4.
What This Gene Does
The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]
Gene Info
Gene Group
"AAA ATPases|Origin recognition complex"
Locus Type
gene with protein product
Location
2q23.1
Ensembl
ENSG00000115947
Associated Conditions (3)
Meier-Gorlin syndrome 2
Inborn genetic diseases
ORC4-related disorder
Key Variants
RS138317624
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2
Health Risk
RS138876526
Conflicting classifications of pathogenicity
Inborn genetic diseases, ORC4-related disorder, Inborn genetic diseases
Health Risk
RS61750441
Conflicting classifications of pathogenicity
ORC4-related disorder, ORC4-related disorder
Health Risk
RS73003466
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 2, Inborn genetic diseases, Meier-Gorlin syndrome 2
Health Risk
RS769409347
Conflicting classifications of pathogenicity
ORC4-related disorder, ORC4-related disorder
Health Risk
RS1403735168
Likely pathogenic
Health Risk
RS2105259429
Likely pathogenic
Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2
Health Risk
RS1085307083
Pathogenic
Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2
Health Risk
RS1218684009
Pathogenic
Health Risk
RS1558831442
Pathogenic
Health Risk
RS1689380193
Pathogenic
Health Risk
RS1689412281
Pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138317624 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2 |
| RS138876526 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ORC4-related disorder, Inborn genetic diseases |
| RS61750441 | Health Risk | Conflicting classifications of pathogenicity | ORC4-related disorder, ORC4-related disorder |
| RS73003466 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 2, Inborn genetic diseases, Meier-Gorlin syndrome 2 |
| RS769409347 | Health Risk | Conflicting classifications of pathogenicity | ORC4-related disorder, ORC4-related disorder |
| RS1403735168 | Health Risk | Likely pathogenic | — |
| RS2105259429 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2 |
| RS1085307083 | Health Risk | Pathogenic | Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2 |
| RS1218684009 | Health Risk | Pathogenic | — |
| RS1558831442 | Health Risk | Pathogenic | — |
| RS1689380193 | Health Risk | Pathogenic | — |
| RS1689412281 | Health Risk | Pathogenic | — |
| RS2105306744 | Health Risk | Pathogenic | — |
| RS2467866643 | Health Risk | Pathogenic | — |
| RS2468008617 | Health Risk | Pathogenic | — |
| RS535159793 | Health Risk | Pathogenic | Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2 |
| RS766811493 | Health Risk | Pathogenic | — |
| RS771941764 | Health Risk | Pathogenic | — |
| RS780889272 | Health Risk | Pathogenic | — |
| RS797044461 | Health Risk | Pathogenic | Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2 |
| RS797045852 | Health Risk | Pathogenic | Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2 |
| RS387906847 | Health Risk | Pathogenic/Likely pathogenic | Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2 |