ORC4 (origin recognition complex subunit 4)

2010-10-01  

Identity

HGNC
ORC4
LOCATION
2q23.1
LOCUSID
5000
ALIAS
ORC4L,ORC4P
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5000
MIM: 603056
HGNC: 8490
Ensembl: ENSG00000115947

Variants:

dbSNP: 5000
ClinVar: 5000
TCGA: ENSG00000115947
COSMIC: ORC4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115947ENST00000264169O43929
ENSG00000115947ENST00000392857O43929
ENSG00000115947ENST00000416719Q53SE3
ENSG00000115947ENST00000440042C9JGH7
ENSG00000115947ENST00000457954C9J2X8
ENSG00000115947ENST00000535373O43929
ENSG00000115947ENST00000536575O43929
ENSG00000115947ENST00000540442O43929

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell cycleKEGGko04110
Cell cycleKEGGhsa04110
Origin recognition complexKEGGhsa_M00284
Origin recognition complexKEGGM00284
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
Activation of ATR in response to replication stressREACTOMER-HSA-176187
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G1-G1/S phasesREACTOMER-HSA-453279
G1/S TransitionREACTOMER-HSA-69206
Activation of the pre-replicative complexREACTOMER-HSA-68962
E2F mediated regulation of DNA replicationREACTOMER-HSA-113510
E2F-enabled inhibition of pre-replication complex formationREACTOMER-HSA-113507
S PhaseREACTOMER-HSA-69242
Synthesis of DNAREACTOMER-HSA-69239
Switching of origins to a post-replicative stateREACTOMER-HSA-69052
Orc1 removal from chromatinREACTOMER-HSA-68949
Regulation of DNA replicationREACTOMER-HSA-69304
Association of licensing factors with the pre-replicative complexREACTOMER-HSA-69298
Removal of licensing factors from originsREACTOMER-HSA-69300
M/G1 TransitionREACTOMER-HSA-68874
DNA Replication Pre-InitiationREACTOMER-HSA-69002
Assembly of the pre-replicative complexREACTOMER-HSA-68867
Assembly of the ORC complex at the origin of replicationREACTOMER-HSA-68616
CDC6 association with the ORC:origin complexREACTOMER-HSA-68689
CDT1 association with the CDC6:ORC:origin complexREACTOMER-HSA-68827
DNA ReplicationREACTOMER-HSA-69306

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
bone marrow

References

Pubmed IDYearTitleCitations
290362202017Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.16
290362202017Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.16
261240522015HsOrc4-Dependent Dna Remodeling of the ori-β Dhfr Replicator.1
261240522015HsOrc4-Dependent Dna Remodeling of the ori-β Dhfr Replicator.1
223338972012Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.56
223338972012Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.56
213586312011Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.92
213586312011Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.92
196909802010Human initiation protein Orc4 prefers triple stranded DNA.8
196909802010Human initiation protein Orc4 prefers triple stranded DNA.8
200101612009Novel ORC4L gene mutation in B-cell lymphoproliferative disorders.9
200101612009Novel ORC4L gene mutation in B-cell lymphoproliferative disorders.9
190748852008Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.32
190748852008Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.32
159100032005Ku80 binds to human replication origins prior to the assembly of the ORC complex.17

Citation

Dessen P

ORC4 (origin recognition complex subunit 4)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51730