ORC4 (origin recognition complex subunit 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5000
Gene name Gene Name - the full gene name approved by the HGNC.
Origin recognition complex subunit 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ORC4
Synonyms (NCBI Gene) Gene synonyms aliases
ORC4L, ORC4P
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs75002266 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs387906847 T>C Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs797044461 ->TGTT Pathogenic Frameshift variant, coding sequence variant
rs797045852 G>- Pathogenic Frameshift variant, coding sequence variant
rs1085307083 T>C Pathogenic 5 prime UTR variant, missense variant, initiator codon variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2053)
miRTarBase ID miRNA Experiments Reference
MIRT032381 hsa-let-7b-5p Proteomics 18668040
MIRT655612 hsa-miR-145-5p HITS-CLIP 23824327
MIRT655611 hsa-miR-5195-3p HITS-CLIP 23824327
MIRT550434 hsa-miR-651-3p HITS-CLIP 23824327
MIRT655610 hsa-miR-1910-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(30)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IDA 9353276
GO:0000166 Function Nucleotide binding IEA
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000781 Component Chromosome, telomeric region IDA 24270157
GO:0000808 Component Origin recognition complex IDA 17716973
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603056 8490 ENSG00000115947
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O43929
Protein name Origin recognition complex subunit 4
Protein function Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-re
PDB 5UJ7 , 5UJM , 7CTE , 7CTF , 7CTG , 7JPO , 7JPP , 7JPQ , 7JPR , 7JPS , 8RWV , 8S0C , 8S0D , 8S0E , 8S0F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13191 AAA_16 36 → 190 AAA ATPase domain Domain
PF14629 ORC4_C 228 → 415 Origin recognition complex (ORC) subunit 4 C-terminus Family
Sequence
Sequence length 436
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cell cycle   Activation of ATR in response to replication stress
Assembly of the ORC complex at the origin of replication
CDC6 association with the ORC:origin complex
CDT1 association with the CDC6:ORC:origin complex
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Meier-Gorlin Syndrome meier-gorlin syndrome 2 rs387906847, rs797044461, rs797045852, rs1085307083 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neuroticism Neuroticism N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36205357
Carcinogenesis Associate 36205357
Common Variable Immunodeficiency Associate 21497890
Ear Diseases Associate 23516378
Genetic Diseases Inborn Associate 21358632
Growth Disorders Associate 21358632
Growth Disorders Stimulate 22333897
Meier Gorlin syndrome Associate 21358632, 22333897, 23516378, 27374770, 29036220
Musculoskeletal Abnormalities Associate 23516378
Neoplasms Associate 32989049