Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23594
Gene name Gene Name - the full gene name approved by the HGNC.
Origin recognition complex subunit 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ORC6
Synonyms (NCBI Gene) Gene synonyms aliases
ORC6L
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q11.2
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle TAS
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607213 17151 ENSG00000091651
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Meier-gorlin syndrome MEIER-GORLIN SYNDROME 3 rs121918494, rs387906826, rs143141689, rs387906828, rs1557573504, rs1378348220, rs387906842, rs387906847, rs797044461, rs387906917, rs147914553, rs779871947, rs387906918, rs200652608, rs786205258
View all (16 more)
22333897, 21358632, 26381604, 7710253
Unknown
Disease term Disease name Evidence References Source
Specific learning disorder Specific learning disability ClinVar
Gorlin Syndrome Meier-Gorlin syndrome GenCC
Associations from Text Mining
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