ORC4 (origin recognition complex subunit 4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5000
Gene name Origin recognition complex subunit 4
Gene symbol ORC4
Synonyms (NCBI Gene)
ORC4LORC4P
Chromosome 2
Chromosome location 2q23.1
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
SNPs SNP information provided by dbSNP.
5
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.
2053
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603056 8490 ENSG00000115947
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Meier-Gorlin syndrome 2 Pathogenic; Likely pathogenic rs535159793, rs2105259429, rs797045852, rs1085307083, rs387906847, rs797044461 RCV001730111
RCV001730112
RCV000194306
RCV000490273
RCV000023230
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (18)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (55)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis, Gouty Gouty arthritis GWASDB_DG 23263486
★★★★★
★☆☆☆☆
Found in Text Mining only
Bronchomalacia Bronchomalacia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36205357 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic myeloproliferative disorder Myeloproliferative disorder GENOMICS_ENGLAND_DG 21358632
★★★★★
★☆☆☆☆
Found in Text Mining only
Clinodactyly of the 5th finger Camptodactyly of fingers HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Common Variable Immunodeficiency BEFREE 21497890
★★★★★
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Common variable immunodeficiency Pubtator 21497890 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital absence of breast Breast aplasia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital absence of external ear Anotia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital absence of mandible Mandibular aplasia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only