Gene Gene information from NCBI Gene database.
Entrez ID 23594
Gene name Origin recognition complex subunit 6
Gene symbol ORC6
Synonyms (NCBI Gene)
ORC6L
Chromosome 16
Chromosome location 16q11.2
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
SNP ID Visualize variation Clinical significance Consequence
rs200089121 T>A,C Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs387906969 A>C Pathogenic Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs572314014 G>A Pathogenic Intron variant
rs786205258 TT>- Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs879255692 AGAA>- Pathogenic Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
398
miRTarBase ID miRNA Experiments Reference
MIRT016286 hsa-miR-193b-3p Microarray 20304954
MIRT049645 hsa-miR-92a-3p CLASH 23622248
MIRT041879 hsa-miR-484 CLASH 23622248
MIRT689529 hsa-miR-6849-3p HITS-CLIP 23313552
MIRT689528 hsa-miR-7162-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000808 Component Origin recognition complex IDA 17716973
GO:0001650 Component Fibrillar center IDA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 15232106, 17716973, 18234858, 25416956, 31515488, 32296183
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607213 17151 ENSG00000091651
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5N6
Protein name Origin recognition complex subunit 6
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 3M03 , 6KVG , 8S0B , 8S0D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05460 ORC6 6 96 Origin recognition complex subunit 6 (ORC6) Family
Sequence
MGSELIGRLAPRLGLAEPDMLRKAEEYLRLSRVKCVGLSARTTETSSAVMCLDLAASWMK
CPLDRAYLIKLSGLNKETYQSCLKSFECLLGLNSNI
GIRDLAVQFSCIEAVNMASKILKS
YESSLPQTQQVDLDLSRPLFTSAALLSACKILKLKVDKNKMVATSGVKKAIFDRLCKQLE
KIGQQVDREPGDVATPPRKRKKIVVEAPAKEMEKVEEMPHKPQKDEDLTQDYEEWKRKIL
ENAASAQKATAE
Sequence length 252
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
64
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Meier-Gorlin syndrome 3 Pathogenic; Likely pathogenic rs2143010039, rs1279789023, rs879255692, rs35441257, rs786205258, rs387906969, rs777153067, rs2548892306 RCV001527366
RCV001527365
RCV000239709
RCV005433474
RCV000023632
RCV000023633
RCV000499481
RCV001255839
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Conflicting classifications of pathogenicity rs572314014 RCV005891090
Meier-Gorlin syndrome Likely benign; Uncertain significance rs568119196, rs60635029, rs753486103, rs779826723, rs756903337, rs771626686, rs886052017 RCV000289004
RCV000403174
RCV000297684
RCV000385060
RCV000324557
RCV000354843
RCV000328260
RCV000347439
RCV000312879
RCV000355991
RCV000267042
Melanoma Uncertain significance rs755961535 RCV005924342
ORC6-related disorder Likely benign; Conflicting classifications of pathogenicity rs1046633319, rs947702982, rs146795505, rs149896160 RCV003913635
RCV003926446
RCV004758677
RCV003940437
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 36978046
Adenocarcinoma of Lung Associate 36205357
Breast Neoplasms Associate 35886011, 38104894
Carcinogenesis Associate 36205357
Carcinoma Hepatocellular Associate 37901236, 40255404
Colorectal Neoplasms Stimulate 19112505, 37096556
DNA Virus Infections Associate 37096556
Ear Diseases Associate 23516378
Genetic Diseases Inborn Associate 21358632
Glioma Stimulate 37901236