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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C2orf44 Gene

protein-coding   GIFtS: 42
GCID: GC02M024252

Chromosome 2 Open Reading Frame 44

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for C2orf44 Gene: 
C2orf44 (chromosome 2 open reading frame 44) is a protein-coding gene. Diseases associated with C2orf44 include wiskott-aldrich syndrome, and lung cancer.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C2orf44

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H6R7

  • C2orf44 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C2orf44 Protein Expression
    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)
    About This Section

    ProtoNet protein and cluster: Q9H6R7

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


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C2orf44 
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    SwitchGear 3'UTR luciferase reporter plasmidC2orf44 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C2orf44

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

    5/16 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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C2orf44 (CB044)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/18 QIAGEN miScript miRNA 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
    Products:
         
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf44
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                         Customized lentivirus expression plasmids for stable overexpression of C2orf44 
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      QIAGEN 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 

    24/108 AceView cDNA sequences (see all 108):

    BM468804 AA599090 BM471894 AA196906 AA236921 BM728880 Z40630 AA412305 
    BU159804 AL709190 BE858039 AA196723 BC035698 BU507503 CR602012 BM452150 
    BX102968 BE733845 BQ220959 AA693338 AI400337 AA236765 BQ028378 CK299912 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See C2orf44 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2orf44

    SOURCE GeneReport for Unigene cluster: Hs.24624
        SABiosciences Custom PCR Arrays for C2orf44
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf44
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for C2orf44 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0682811 , 5 cDNA sequence BC0682811, 5 74.8(n)1
    66.61(a)1
      12 (2.10 cM)5
    2380371  NM_001170858.11  NP_001164329.11 
     48433035 
    chicken
    (Gallus gallus)
    Aves LOC7704291 WD repeat-containing protein C2orf44 homolog 63.26(n)
    53.7(a)
      770429  XM_001233762.1  XP_001233763.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    C2ORF446
    Uncharacterized protein
    48(a)
    46(a)
    possible ortholog
    1 ↔ 1
    1(140265979-140300679)
    1(140305796-140319976)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA985716.12   -- 70.44(n)    CA985716.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1035111 zgc:103511 54.55(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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/385 SNPs in C2orf44 are shown (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: --
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for C2orf44:    About MalaCards
    wiskott-aldrich syndrome    lung cancer


    C2orf44 for disorders           About GeneDecksing


    Export disorders for C2orf44 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)
    About This Section

    PubMed articles for C2orf44 gene, integrated from 9 sources (see all 22):
    (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 co lorectal and lung cancer biopsies. (PubMed id 22327622)1, 3 Lipson D....Stephens P.J. (2012)
    2. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    3. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    5. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    6. 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. (2009)
    7. Genome-wide association studies in an isolated founde r population from the Pacific Island of Kosrae. (PubMed id 19197348)1 Lowe J.K....Friedman J.M. (2009)
    8. Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. (PubMed id 19596235)1 Svendsen J.M.... Harper J.W. (2009)
    9. Probabilistic assembly of human protein interaction n etworks from label-free quantitative proteomics. (PubMed id 18218781)1 Sardiu M.E....Washburn M.P. (2008)
    10. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 80304 HGNC: 26157 AceView: FLJ21945 Ensembl:ENSG00000163026 euGenes: HUgn80304
    ECgene: C2orf44 H-InvDB: C2orf44

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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