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Aliases for ORC4 Gene

Aliases for ORC4 Gene

  • Origin Recognition Complex Subunit 4 2 3 5
  • ORC4L 3 4
  • Origin Recognition Complex, Subunit 4 Homolog (S. Cerevisiae) 2
  • Origin Recognition Complex, Subunit 4 (Yeast Homolog)-Like 2
  • Origin Recognition Complex, Subunit 4-Like (S. Cerevisiae) 2
  • Origin Recognition Complex, Subunit 4-Like (Yeast) 2
  • Origin Recognition Complex, Subunit 4 Homolog 3
  • Origin Recognition Complex, Subunit 4 2
  • ORC4P 3

External Ids for ORC4 Gene

Previous HGNC Symbols for ORC4 Gene

  • ORC4L

Previous GeneCards Identifiers for ORC4 Gene

  • GC02M148691

Summaries for ORC4 Gene

Entrez Gene Summary for ORC4 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 as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]

GeneCards Summary for ORC4 Gene

ORC4 (Origin Recognition Complex Subunit 4) is a Protein Coding gene. Diseases associated with ORC4 include Meier-Gorlin Syndrome 2 and Mbd5 Haploinsufficiency. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and E2F mediated regulation of DNA replication. GO annotations related to this gene include nucleotide binding and DNA replication origin binding.

UniProtKB/Swiss-Prot for ORC4 Gene

  • 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-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3.

Gene Wiki entry for ORC4 Gene

Additional gene information for ORC4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ORC4 Gene

Genomics for ORC4 Gene

Regulatory Elements for ORC4 Gene

Enhancers for ORC4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H148018 1.4 Ensembl ENCODE 17.7 +0.1 60 5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 ORC4 MBD5
GH02H147843 1.1 ENCODE 16.3 +176.4 176438 3 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 BRCA1 YY1 GLIS2 ORC4 ACVR2A GC02P147878
GH02H147689 1.1 FANTOM5 Ensembl 7.8 +331.9 331881 1 BACH1 BMI1 BATF RELA EED ATF7 RUNX3 IKZF2 CREM CBFB ACVR2A ORC4 GC02P147669 GC02M147665
GH02H147635 1.3 FANTOM5 Ensembl ENCODE 6.1 +385.3 385296 2 HDGF PKNOX1 BATF RELA RFX5 EED ATF7 RUNX3 IKZF2 CREM ACVR2A ORC4 GC02M147592 GC02P147666
GH02H147792 0.5 ENCODE 14 +228.4 228420 1 ZNF362 CREB1 NFE2 ORC4 RPL26P14 GC02P147774
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ORC4 on UCSC Golden Path with GeneCards custom track

Promoters for ORC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000124259 504 3401 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1

Genomic Location for ORC4 Gene

Chromosome:
2
Start:
147,930,397 bp from pter
End:
148,021,604 bp from pter
Size:
91,208 bases
Orientation:
Minus strand

Genomic View for ORC4 Gene

Genes around ORC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ORC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ORC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ORC4 Gene

Proteins for ORC4 Gene

  • Protein details for ORC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43929-ORC4_HUMAN
    Recommended name:
    Origin recognition complex subunit 4
    Protein Accession:
    O43929
    Secondary Accessions:
    • B7Z3D0
    • B7Z5F1
    • D3DP86
    • F5H069
    • Q96C42

    Protein attributes for ORC4 Gene

    Size:
    436 amino acids
    Molecular mass:
    50377 Da
    Quaternary structure:
    • Component of ORC, a complex composed of at least 6 subunits: ORC1, ORC2, ORC3, ORC4, ORC5 and ORC6. ORC is regulated in a cell-cycle dependent manner. It is sequentially assembled at the exit from anaphase of mitosis and disassembled as cells enter S phase (PubMed:12909626, PubMed:17716973). Interacts with DBF4 (By similarity). Interacts with POLQ (PubMed:24989122).

    Three dimensional structures from OCA and Proteopedia for ORC4 Gene

    Alternative splice isoforms for ORC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ORC4 Gene

Post-translational modifications for ORC4 Gene

  • Ubiquitination at posLast=204204, Lys243, and Lys417
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ORC4 Gene

Domains & Families for ORC4 Gene

Gene Families for ORC4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ORC4 Gene

Graphical View of Domain Structure for InterPro Entry

O43929

UniProtKB/Swiss-Prot:

ORC4_HUMAN :
  • Belongs to the ORC4 family.
Family:
  • Belongs to the ORC4 family.
genes like me logo Genes that share domains with ORC4: view

Function for ORC4 Gene

Molecular function for ORC4 Gene

UniProtKB/Swiss-Prot 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-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3.

Phenotypes From GWAS Catalog for ORC4 Gene

Gene Ontology (GO) - Molecular Function for ORC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IDA,IEA 9353276
GO:0003677 DNA binding IEA --
GO:0003688 DNA replication origin binding IMP 9353276
GO:0005515 protein binding IPI 15232106
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ORC4: view

Phenotypes for ORC4 Gene

genes like me logo Genes that share phenotypes with ORC4: view

Human Phenotype Ontology for ORC4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ORC4 Gene

miRTarBase miRNAs that target ORC4

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ORC4 Gene

Localization for ORC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ORC4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ORC4 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 3
cytoskeleton 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ORC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IDA 24270157
GO:0000808 origin recognition complex IDA 17716973
GO:0005634 nucleus IDA 9353276
GO:0005654 nucleoplasm TAS --
GO:0005664 nuclear origin of replication recognition complex IDA 20932478
genes like me logo Genes that share ontologies with ORC4: view

Pathways & Interactions for ORC4 Gene

genes like me logo Genes that share pathways with ORC4: view

Gene Ontology (GO) - Biological Process for ORC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0006260 DNA replication TAS --
GO:0006270 DNA replication initiation IMP 9353276
genes like me logo Genes that share ontologies with ORC4: view

No data available for SIGNOR curated interactions for ORC4 Gene

Drugs & Compounds for ORC4 Gene

No Compound Related Data Available

Transcripts for ORC4 Gene

Unigene Clusters for ORC4 Gene

Origin recognition complex, subunit 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ORC4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: - -
SP2:
SP3: -
SP4: -

Relevant External Links for ORC4 Gene

GeneLoc Exon Structure for
ORC4
ECgene alternative splicing isoforms for
ORC4

Expression for ORC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ORC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ORC4 Gene

This gene is overexpressed in Testis (24.3) and Bone (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ORC4 Gene



Protein tissue co-expression partners for ORC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ORC4 Gene:

ORC4

SOURCE GeneReport for Unigene cluster for ORC4 Gene:

Hs.558364

Evidence on tissue expression from TISSUES for ORC4 Gene

  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ORC4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • penis
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ORC4: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ORC4 Gene

Orthologs for ORC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ORC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ORC4 33 34
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia ORC4 34 33
  • 92.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ORC4 34 33
  • 91.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Orc4 33 16 34
  • 88.53 (n)
rat
(Rattus norvegicus)
Mammalia Orc4 33
  • 87.25 (n)
oppossum
(Monodelphis domestica)
Mammalia ORC4 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ORC4 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ORC4 33 34
  • 72.71 (n)
lizard
(Anolis carolinensis)
Reptilia ORC4 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia orc4 33
  • 68.9 (n)
Str.7089 33
African clawed frog
(Xenopus laevis)
Amphibia Orc4 33
zebrafish
(Danio rerio)
Actinopterygii orc4 34 33
  • 62.56 (n)
OneToOne
Dr.20190 33
fruit fly
(Drosophila melanogaster)
Insecta Orc4 33 34
  • 48.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007063 33
  • 46.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORC4 34 36
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons ORC4 33
  • 46.2 (n)
rice
(Oryza sativa)
Liliopsida Os01g0683400 33
  • 44.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1951 34
  • 50 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes orc4 33
  • 47.47 (n)
Species where no ortholog for ORC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ORC4 Gene

ENSEMBL:
Gene Tree for ORC4 (if available)
TreeFam:
Gene Tree for ORC4 (if available)

Paralogs for ORC4 Gene

(1) SIMAP similar genes for ORC4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ORC4: view

No data available for Paralogs for ORC4 Gene

Variants for ORC4 Gene

Sequence variations from dbSNP and Humsavar for ORC4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs387906847 Pathogenic, Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800] 147,952,440(-) TCTCT(A/G)TAATC reference, missense
rs797044461 Pathogenic 147,939,224(-) TAACA(-/AACA)GCATC reference, frameshift-variant
rs797045852 Pathogenic 147,935,595(-) TAATA(-/C)TCAAA reference, frameshift-variant
rs2307397 Likely benign 147,972,798(-) CTGCT(C/G)TCCAT intron-variant, reference, missense, utr-variant-5-prime
rs73003466 Likely benign 147,948,209(+) TTCTA(A/C)GAGTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ORC4 Gene

Variant ID Type Subtype PubMed ID
esv3446864 CNV insertion 20981092
esv3592832 CNV loss 21293372
nsv1015003 CNV gain 25217958
nsv1138857 CNV deletion 24896259

Variation tolerance for ORC4 Gene

Residual Variation Intolerance Score: 49.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.48; 91.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ORC4 Gene

Human Gene Mutation Database (HGMD)
ORC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ORC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ORC4 Gene

Disorders for ORC4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ORC4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
meier-gorlin syndrome 2
  • mgors2
mbd5 haploinsufficiency
  • 2q23.1 microdeletion syndrome
meier-gorlin syndrome 1
  • meier-gorlin syndrome
microtia
growth hormone deficiency, isolated, type ia
  • isolated growth hormone deficiency type ia
- elite association - COSMIC cancer census association via MalaCards
Search ORC4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ORC4_HUMAN
  • Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800]: A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269 PubMed:21358631, ECO:0000269 PubMed:21358632}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ORC4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ORC4
genes like me logo Genes that share disorders with ORC4: view

No data available for Genatlas for ORC4 Gene

Publications for ORC4 Gene

  1. Assignment of the homologue of the yeast origin recognition complex subunit ORC4 (ORC4L) to human chromosome band 2q22-->q23 by in situ hybridization and somatic cell hybrid analysis. (PMID: 9691185) Eki T … Hanaoka F (Cytogenetics and cell genetics 1998) 2 3 22 60
  2. Identification of HsORC4, a member of the human origin of replication recognition complex. (PMID: 9353276) Quintana DG … Dutta A (The Journal of biological chemistry 1997) 2 3 4 60
  3. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. (PMID: 21358631) Guernsey DL … Samuels ME (Nature genetics 2011) 3 4 60
  4. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. (PMID: 21358632) Bicknell LS … Jackson AP (Nature genetics 2011) 3 4 60
  5. Novel ORC4L gene mutation in B-cell lymphoproliferative disorders. (PMID: 20010161) Radojkovic M … Radojkovic D (The American journal of the medical sciences 2009) 3 22 60

Products for ORC4 Gene

Sources for ORC4 Gene

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