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C2orf44 Gene

protein-coding   GIFtS: 44
GCID: GC02M024252

Chromosome 2 Open Reading Frame 44

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(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
Chromosome 2 Open Reading Frame 441 2
WD Repeat-Containing Protein C2orf442

External Ids:    HGNC: 261571   Entrez Gene: 803042   Ensembl: ENSG000001630267   UniProtKB: Q9H6R73   

Export aliases for C2orf44 gene to outside databases

Previous GC identifers: GC02M024105 GC02M023991


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C2orf44 Gene:
C2orf44 (chromosome 2 open reading frame 44) is a protein-coding 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  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the C2orf44 gene promoter:
         Sp1   RREB-1   Zic3   YY1   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C2orf44

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C2orf44


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

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3

C2orf44 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf44 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M024252:  view genomic region     (about GC identifiers)

Start:
24,252,206 bp from pter      End:
24,272,445 bp from pter
Size:
20,240 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CB044_HUMAN, Q9H6R7 (See protein sequence)
Recommended Name: WD repeat-containing protein C2orf44  
Size: 721 amino acids; 79136 Da
Secondary accessions: D6W532 Q8IYK0 Q9HBP5
Alternative splicing: 3 isoforms:  Q9H6R7-1   Q9H6R7-2   Q9H6R7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C2orf44: NX_Q9H6R7

Explore proteomics data for C2orf44 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C2orf44 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001135791.1  NP_079479.1  

    ENSEMBL proteins: 
     ENSP00000295148   ENSP00000385816   ENSP00000413426  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR028041 DUF4613

    Graphical View of Domain Structure for InterPro Entry Q9H6R7

    ProtoNet protein and cluster: Q9H6R7

    UniProtKB/Swiss-Prot: CB044_HUMAN, Q9H6R7
    Similarity: Contains 2 WD repeats


    Find genes that share domains with C2orf44           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C2orf44
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    miRTarBase miRNAs that target C2orf44:
    hsa-mir-192-5p (MIRT026518), hsa-let-7b-5p (MIRT052200), hsa-mir-215-5p (MIRT024547), hsa-mir-1229-3p (MIRT036302)

    Block miRNA regulation of human, mouse, rat C2orf44 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C2orf44 (see all 18):
    hsa-miR-302d hsa-miR-520e hsa-miR-938 hsa-miR-302e hsa-miR-10b* hsa-miR-520a-3p hsa-miR-372 hsa-miR-520d-3p
    SwitchGear 3'UTR luciferase reporter plasmidC2orf44 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C2orf44

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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endoplasmic reticulum1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C2orf44
    Interactions:

        Search GeneGlobe Interaction Network for C2orf44

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

    Selected Interacting proteins for C2orf44 (Q9H6R72, 3 ENSP000002951484) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED31Q9Y3C72, 3MINT-65502 I2D: score=5 
    RAB35Q152862, 3MINT-64233 I2D: score=4 
    CSNK1EP496742, 3MINT-8252703 I2D: score=2 
    CSNK1G1Q9HCP02, 3MINT-8252857 I2D: score=2 
    CSNK1G2P783682, 3MINT-8252912 I2D: score=2 
    About this table

    (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 C2orf44 (CB044)



    (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 C2orf44 gene (2 alternative transcripts): 
    NM_001142319.1  NM_025203.2  

    Unigene Cluster for C2orf44:

    Chromosome 2 open reading frame 44
    Hs.24624  [show with all ESTs]
    Unigene Representative Sequence: NM_025203
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295148(uc002rep.2) ENST00000406895(uc010eya.2) ENST00000443232

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate C2orf44 (see all 18):
    hsa-miR-302d hsa-miR-520e hsa-miR-938 hsa-miR-302e hsa-miR-10b* hsa-miR-520a-3p hsa-miR-372 hsa-miR-520d-3p
    SwitchGear 3'UTR luciferase reporter plasmidC2orf44 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): C2orf44 (NM_025203)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf44
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      QuantiFast Probe-based Assays in human, mouse, rat C2orf44

    Additional mRNA sequence: 

    AF218013.1 AK025598.1 BC035698.2 

    6 DOTS entries:

    DT.100779852  DT.210067  DT.100779850  DT.100652033  DT.120991903  DT.91806216 

    Selected AceView cDNA sequences (see all 108):

    BM452150 BX102968 Z40630 BM468804 BM471894 AA599090 BE858039 BU507503 
    AA196723 BQ220959 AL709190 BU159804 CR602012 BM728880 AA236921 BE733845 
    BC035698 AA196906 AA412305 BQ774964 CD655736 BM799839 AA693338 CK000621 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf44    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4
    SP1:                              
    SP2:                    -         


    ECgene alternative splicing isoforms for C2orf44

    (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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    C2orf44 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTGTCCCTG
    C2orf44 Expression
    About this image

    C2orf44 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C2orf44 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.24624
        Custom PCR Arrays for C2orf44
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf44

    (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 chordates.

    Orthologs for C2orf44 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0682811 , 5 cDNA sequence BC0682811, 5 74.93(n)1
    66.98(a)1
      12 (2.10 cM)5
    2380371  NM_001170858.11  NP_001164329.11 
     48433035 
    chicken
    (Gallus gallus)
    Aves LOC4219751 WD repeat-containing protein C2orf44 homolog 60.55(n)
    52.87(a)
      421975  NM_001006419.1  NP_001006419.1 
    lizard
    (Anolis carolinensis)
    Reptilia C2orf446
    chromosome 2 open reading frame 44
    46(a)
    1 ↔ 1
    1(140305796-140319976)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA985716.12   -- 70.44(n)    CA985716.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1035111 zgc:103511 54.6(n)
    50.54(a)
      541407  NM_001013534.1  NP_001013552.1 


    ENSEMBL Gene Tree for C2orf44 (if available)
    TreeFam Gene Tree for C2orf44 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 C2orf44 (see all 385)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358764
    A breast cancer sample4--see VAR_0358762 P S mis40--------
    rs1865495731,2
    --24251754(+) ATAGGC/TAAATG 2 -- int10--------
    rs23399401,2
    C,F,A,H--24251787(-) TTGGAA/CAAACA 2 -- int127Minor allele frequency- C:0.41NS EA NA WA CSA 2489
    rs23399391,2
    C,H--24251949(-) GGAGAG/AAAGAG 2 -- int117Minor allele frequency- A:0.00NS EA NA WA CSA 795
    rs1911831391,2
    --24252031(+) GGAAAC/TATCTC 2 -- int10--------
    rs1391763871,2
    --24252037(+) ATCTCC/TTGTAT 2 -- int10--------
    rs1424795961,2
    --24252062(+) AATCAA/GATTTG 2 -- int10--------
    rs1459293391,2
    C--24252241(+) TGAAGA/GCTTAT 2 -- ut310--------
    rs32031,2
    C,F,O,A,H--24252417(+) GTCACC/G/TGCTCT 4 -- ut31 ese321MN NA NS EA WA CSA 1308
    rs1850097521,2
    C--24252427(+) TCCCAC/GAGCTG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for C2orf44 (24252206 - 24272445 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for C2orf44: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C2orf44
    DNA2.0 Custom Variant and Variant Library Synthesis for C2orf44

    (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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    (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 C2orf44 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with C2orf44)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of new ALK and RET gene fusions from colorectal and lung cancer biopsies. (PubMed id 22327622)1, 3 Lipson D....Stephens P.J. (Nat. Med. 2012)
    2. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    3. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    5. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    7. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    9. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PubMed id 19197348)1 Lowe J.K....Friedman J.M. (PLoS Genet. 2009)
    10. Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. (PubMed id 19596235)1 Svendsen J.M.... Harper J.W. (Cell 2009)

    (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: 80304 HGNC: 26157 AceView: FLJ21945 Ensembl:ENSG00000163026 euGenes: HUgn80304
    ECgene: C2orf44 H-InvDB: C2orf44

    (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 C2orf44 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C2orf44 gene:
    Search GeneIP for patents involving C2orf44

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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