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ORC4 Gene

protein-coding   GIFtS: 55
GCID: GC02M148691

Origin Recognition Complex, Subunit 4

(Previous names: origin recognition complex, subunit 4 (yeast homolog)-like,...)
(Previous symbol: ORC4L)
  See ORC4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Origin Recognition Complex, Subunit 41 2     Origin Recognition Complex, Subunit 4-Like (Yeast)1
ORC4L1 2 3 5     ORC4P2
Origin Recognition Complex, Subunit 4 (Yeast Homolog)-Like1     Origin Recognition Complex Subunit 42
Origin Recognition Complex, Subunit 4 Homolog (S. Cerevisiae)1     Origin Recognition Complex, Subunit 4 Homolog2
Origin Recognition Complex, Subunit 4-Like (S. Cerevisiae)1     

External Ids:    HGNC: 84901   Entrez Gene: 50002   Ensembl: ENSG000001159477   OMIM: 6030565   UniProtKB: O439293   

Export aliases for ORC4 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 meier-gorlin syndrome 1. GO annotations related to this gene include DNA replication origin binding and nucleotide binding.

UniProtKB/Swiss-Prot: ORC4_HUMAN, O43929
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

Gene Wiki entry for ORC4 (ORC4L) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ORC4
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ORC4 promoter sequence
   Search Chromatin IP Primers for ORC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ORC4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q22-q23   Ensembl cytogenetic band:  2q23.1   HGNC cytogenetic band: 2q22-q23

ORC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ORC4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M148691:  view genomic region     (about GC identifiers)

Start:
148,687,966 bp from pter      End:
148,779,173 bp from pter
Size:
91,208 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ORC4_HUMAN, O43929 (See protein sequence)
Recommended Name: Origin recognition complex subunit 4  
Size: 436 amino acids; 50377 Da
Subunit: 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. Interacts with DBF4 (By similarity)
Secondary accessions: B7Z3D0 B7Z5F1 D3DP86 F5H069 Q96C42
Alternative splicing: 3 isoforms:  O43929-1   O43929-2   O43929-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ORC4: NX_O43929

Explore proteomics data for ORC4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys204, Lys243, Lys417
  • Modification sites at PhosphoSitePlus

  • See ORC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001177808.1  NP_001177810.1  NP_001177811.1  NP_002543.2  NP_859525.1  NP_859526.1  

    ENSEMBL proteins: 
     ENSP00000376597   ENSP00000413939   ENSP00000391484   ENSP00000403105   ENSP00000264169  
     ENSP00000441953   ENSP00000376598   ENSP00000438326   ENSP00000441502   ENSP00000437440  
    Reactome Protein details: O43929

    ORC4 Human Recombinant Protein Products:

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    Novus Biologicals ORC4 Protein
    Novus Biologicals ORC4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for ORC4 (6 products) 

     
    antibodies-online peptides for ORC4

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    antibodies-online antibodies for ORC4 (28 products) 

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    antibodies-online kits for ORC4 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AATP: ATPases / AAA-type

    3 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR016527 ORC4

    Graphical View of Domain Structure for InterPro Entry O43929

    ProtoNet protein and cluster: O43929

    UniProtKB/Swiss-Prot: ORC4_HUMAN, O43929
    Similarity: Belongs to the ORC4 family


    Find genes that share domains with ORC4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ORC4_HUMAN, O43929
    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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IDA9353276
    GO:0003677DNA binding ----
    GO:0003688DNA replication origin binding IMP9353276
    GO:0005515protein binding IPI15232106
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with ORC4           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Orc4):
     behavior/neurological 

    Find genes that share phenotypes with ORC4           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ORC4

    miRNA
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    miRTarBase miRNAs that target ORC4:
    hsa-let-7b-5p (MIRT032381)

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    Selected qRT-PCR Assays for microRNAs that regulate ORC4 (see all 59):
    hsa-miR-411* hsa-miR-2052 hsa-miR-140-5p hsa-miR-219-1-3p hsa-miR-562 hsa-miR-3607-3p hsa-miR-607 hsa-miR-19b-2*
    SwitchGear 3'UTR luciferase reporter plasmidORC4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ORC4

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 6): ORC4 (NM_181742)
    Sino Biological Human cDNA Clone for ORC4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ORC4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORC4

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ORC4_HUMAN, O43929: Nucleus

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000808origin recognition complex IDA17716973
    GO:0005634nucleus IDA9353276
    GO:0005654nucleoplasm TAS--
    GO:0005664nuclear origin of replication recognition complex IDA--

    Find genes that share ontologies with ORC4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ORC4 About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Activation of the pre-replicative complex
    Activation of the pre-replicative complex0.66
    Cell cycle Start of DNA replication in early S phase0.53
    DNA Replication0.66
    2E2F mediated regulation of DNA replication
    Mitotic G1-G1/S phases0.81
    E2F mediated regulation of DNA replication0.30
    G1/S Transition0.81
    E2F-enabled inhibition of pre-replication complex formation0.00
    G1 to S cell cycle control0.35
    Assembly of the ORC complex at the origin of replication0.00
    3Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    4CDK-mediated phosphorylation and removal of Cdc6
    Switching of origins to a post-replicative state0.93
    Removal of licensing factors from origins0.86
    Orc1 removal from chromatin0.93
    M/G1 Transition0.81
    Regulation of DNA replication0.93
    DNA Replication Pre-Initiation0.81
    Synthesis of DNA0.92
    S Phase0.78
    5Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90


    Find genes that share SuperPaths with ORC4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ORC4
        Cell Cycle Control of Chromosomal Replication

    1 GeneGo (Thomson Reuters) Pathway for ORC4
        Cell cycle Start of DNA replication in early S phase

    3 BioSystems Pathways for ORC4
        Cell cycle
    G1 to S cell cycle control
    DNA Replication


    Selected Reactome Pathways for ORC4 (see all 10)
        Activation of ATR in response to replication stress
    Removal of licensing factors from origins
    E2F-enabled inhibition of pre-replication complex formation
    Orc1 removal from chromatin
    Assembly of the pre-replicative complex


    1 Kegg Pathway  (Kegg details for ORC4):
        Cell cycle

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ORC4
    Interactions:

        Search GeneGlobe Interaction Network for ORC4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ORC4 (O439291, 2, 3 ENSP000002641694) via UniProtKB, MINT, STRING, and/or I2D (see all 129)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006260DNA replication TAS--
    GO:0006270DNA replication initiation IMP9353276
    GO:0006810transport ----

    Find genes that share ontologies with ORC4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ORC4



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ORC4 gene (6 alternative transcripts): 
    NM_001190879.2  NM_001190881.2  NM_001190882.2  NM_002552.4  NM_181741.3  NM_181742.3  

    Unigene Cluster for ORC4:

    Origin recognition complex, subunit 4
    Hs.558364  [show with all ESTs]
    Unigene Representative Sequence: NM_001190879
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392857 ENST00000488761 ENST00000481488 ENST00000483608 ENST00000478904
    ENST00000461711 ENST00000496670 ENST00000490200 ENST00000416719 ENST00000457954
    ENST00000440042 ENST00000495601 ENST00000264169(uc002twk.3) ENST00000535373(uc021vqr.1 uc002twi.3 uc010zbp.2 uc010zbr.2)
    ENST00000392858(uc002twj.3) ENST00000540442(uc010zbo.2) ENST00000536575(uc010zbq.2)
    ENST00000542387
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ORC4 (see all 59):
    hsa-miR-411* hsa-miR-2052 hsa-miR-140-5p hsa-miR-219-1-3p hsa-miR-562 hsa-miR-3607-3p hsa-miR-607 hsa-miR-19b-2*
    SwitchGear 3'UTR luciferase reporter plasmidORC4 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ORC4
      QuantiFast Probe-based Assays in human, mouse, rat ORC4

    Additional mRNA sequence: 

    AF022108.1 AF047598.1 AF132596.1 AK128860.1 AK225092.1 AK291989.1 AK295721.1 AK298862.1 
    BC005388.1 BC014847.1 BC016177.1 

    22 DOTS entries:

    DT.100645984  DT.213973  DT.91752473  DT.91752469  DT.86845579  DT.40260274  DT.100816443  DT.100816449 
    DT.100816448  DT.121032338  DT.100816444  DT.91752462  DT.95276183  DT.99951864  DT.99998627  DT.100816450 
    DT.40263590  DT.91752464  DT.95276188  DT.97776689  DT.100766759  DT.40126586 

    Selected AceView cDNA sequences (see all 229):

    AW273945 AW959543 BX505237 BP354324 CB145852 BP345092 NM_181742 AI167500 
    BM675130 NM_181741 BM977028 AA831302 BC014847 BQ006399 BX118071 BM459157 
    CA431036 BI496505 AU106267 NM_002552 BU165452 BU623272 BM926755 Z41817 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ORC4    About this scheme

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


    ECgene alternative splicing isoforms for ORC4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ORC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ORC4 Expression
    About this image


    ORC4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    ORC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ORC4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.558364
        Custom PCR Arrays for ORC4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORC4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ORC4 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Orc41 , 5 origin recognition complex, subunit 41, 5 88.53(n)1
    89.61(a)1
      2 (28.42 cM)5
    264281  NM_011958.31  NP_036088.31 
     489028245 
    chicken
    (Gallus gallus)
    Aves ORC41 origin recognition complex, subunit 4 72.71(n)
    75.69(a)
      424307  XM_004943015.1  XP_004943072.1 
    lizard
    (Anolis carolinensis)
    Reptilia ORC46
    origin recognition complex, subunit 4
    76(a)
    1 ↔ 1
    GL343278.1(408251-441175)
    African clawed frog
    (Xenopus laevis)
    Amphibia Orc42 origin recognition complex subunit 4 75.61(n)    Y16385.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.201902 Transcribed sequence with weak similarity to protein more 73.25(n)    BI474981.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Orc41 Origin recognition complex subunit 4 48.5(n)
    47.69(a)
      37970  NM_057972.3  NP_477320.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ORC4(YPR162C)4 Subunit of the origin recognition complex, which directs more   --   16(868304-866715) 856291  NP_015488.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ORC41 ORC4 46.2(n)
    31.17(a)
      814641  NM_126174.4  NP_178222.4 
    rice
    (Oryza sativa)
    Liliopsida Os01g06834001 Os01g0683400 44.97(n)
    31.42(a)
      4324139  NM_001050423.1  NP_001043888.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ORC4 gene
    1 SIMAP similar gene for ORC4 using alignment to 3 protein entries:     ORC4_HUMAN (see all proteins):
    ORC4L

    Find genes that share paralogs with ORC4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ORC4 (see all 1511)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0654864
    Meier-Gorlin syndrome 2 (MGORS2)4--see VAR_0654862 Y C mis40--------
    rs2008074391,2
    C--140698465(+) TAAAAA/GGAAAA 6 -- int10--------
    rs172190431,2
    C--140722698(-) TGTTATGATA/
            
    GGAAT
    6 -- int11Minor allele frequency- -:0.01NS 166
    rs113993471,2
    C--140742505(+) AAAAA-/ATCTCT 6 -- int1 trp30--------
    rs1499751121,2
    --148187115(+) GCCCAC/GATCTC 6 -- ds50010--------
    rs1840003871,2
    --148187123(+) CTCCGC/TGTAAG 6 -- ds50010--------
    rs1465846301,2
    --148187129(+) GTAAGC/GAATGC 6 -- ds50010--------
    rs1886272391,2
    --148187149(+) AACTTC/GCCATA 6 -- ds50010--------
    rs1919979611,2
    --148187178(+) GTGTTC/TGGCTT 6 -- ds50010--------
    rs176926481,2
    C,F,H--148187370(+) TGAAAA/CTACAA 6 -- ds500124Minor allele frequency- C:0.11NA EA NS 2858

    HapMap Linkage Disequilibrium report for ORC4 (148687966 - 148779173 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ORC4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv271545CNV Insertion20981092
    nsv875275CNV Gain21882294

    Human Gene Mutation Database (HGMD): ORC4
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ORC4
    DNA2.0 Custom Variant and Variant Library Synthesis for ORC4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603056   
    OMIM disorders: 613800  
    UniProtKB/Swiss-Prot: ORC4_HUMAN, O43929
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 3 diseases for ORC4:    
    About MalaCards
    meier-gorlin syndrome 2    meier-gorlin syndrome 1    meier-gorlin syndrome


    Find genes that share disorders with ORC4           About GenesLikeMe


    Export disorders for ORC4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ORC4 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with ORC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of HsORC4, a member of the human origin of replication recognition complex. (PubMed id 9353276)1, 2, 3 Quintana D.G.... Dutta A. (J. Biol. Chem. 1997)
    2. Assignment of the homologue of the yeast origin recognition complex subunit ORC4 (ORC4L) to human chromosome band 2q22--&gt;q23 by in situ hybridization and somatic cell hybrid analysis. (PubMed id 9691185)1, 3, 9 Eki T....Hanaoka F. (Cytogenet. Cell Genet. 1998)
    3. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. (PubMed id 21358632)1, 2 Bicknell L.S....Jackson A.P. (Nat. Genet. 2011)
    4. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. (PubMed id 21358631)1, 2 Guernsey D.L.... Samuels M.E. (Nat. Genet. 2011)
    5. ATP-dependent assembly of the human origin recognition complex. (PubMed id 17716973)1, 2 Siddiqui K. and Stillman B. (J. Biol. Chem. 2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The Orc4p and Orc5p subunits of the Xenopus and human origin recognition complex are related to Orc1p and Cdc6p. (PubMed id 9829972)1, 9 Tugal T.... Stillman B. (J. Biol. Chem. 1998)
    9. Novel ORC4L gene mutation in B-cell lymphoproliferative disorders. (PubMed id 20010161)1, 9 Radojkovic M....Radojkovic D. (Am. J. Med. Sci. 2009)
    10. Identification and characterization of MmORC4 and MmORC5, two subunits of the mouse origin of replication recognition complex. (PubMed id 10460412)1, 9 Springer J....Grummt F. (Chromosoma 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5000 HGNC: 8490 AceView: ORC4L Ensembl:ENSG00000115947 euGenes: HUgn5000
    ECgene: ORC4 Kegg: 5000 H-InvDB: ORC4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ORC4 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/orc4l/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ORC4 gene:
    Search GeneIP for patents involving ORC4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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