ORC4 origin recognition complex subunit 4
Gene ID: 5000, updated on 3-Apr-2024Gene type: protein coding
Also known as: ORC4L; ORC4P
- See all available tests in GTR for this gene
- Go to complete Gene record for ORC4
- Go to Variation Viewer for ORC4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
Meier-Gorlin syndrome 2 | See labs |
Genomic context
- Location:
- 2q23.1
- Sequence:
- Chromosome: 2; NC_000002.12 (147930396..148021551, complement)
- Total number of exons:
- 18
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for ORC4 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.