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

C5orf22 Gene

protein-coding   GIFtS: 45
GCID: GC05P031532

Chromosome 5 Open Reading Frame 22

  Search for C5orf22
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 5 Open Reading Frame 221 2
UPF0489 Protein C5orf222

External Ids:    HGNC: 256391   Entrez Gene: 553222   Ensembl: ENSG000000822137   UniProtKB: Q49AR23   

Export aliases for C5orf22 gene to outside databases

Previous GC identifers: GC05P031569 GC05P031498 GC05P031570 GC05P031500


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

GeneCards Summary for C5orf22 Gene: 
C5orf22 (chromosome 5 open reading frame 22) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C5orf22 gene promoter:
         N-Myc   PPAR-alpha   Elk-1   AML1a   Bach2   c-Myb   MyoD   STAT5A   LCR-F1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C5orf22

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5orf22


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

Entrez Gene cytogenetic band: 5p13.3   Ensembl cytogenetic band:  5p13.3   HGNC cytogenetic band: 5p13.3

C5orf22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf22 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P031532:  view genomic region     (about GC identifiers)

Start:
31,532,373 bp from pter      End:
31,555,165 bp from pter
Size:
22,793 bases      Orientation:
plus 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: CE022_HUMAN, Q49AR2 (See protein sequence)
Recommended Name: UPF0489 protein C5orf22  
Size: 442 amino acids; 49967 Da
Secondary accessions: Q8ND28 Q8WU61 Q9NUR1
Alternative splicing: 3 isoforms:  Q49AR2-1   Q49AR2-2   Q49AR2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C5orf22: NX_Q49AR2

Explore proteomics data for C5orf22 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q49AR2

  • C5orf22 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C5orf22 Protein Expression
    REFSEQ proteins: NP_060826.2  
    ENSEMBL proteins: 
     ENSP00000326879   ENSP00000423039   ENSP00000421667   ENSP00000430860   ENSP00000428898  
     ENSP00000430261   ENSP00000348171  

    Human Recombinant Protein Products for C5orf22: 
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    Novus Biologicals C5orf22 Lysate
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for C5orf22 


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    LSBio Antibodies in human, mouse, rat for C5orf22 

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    Cloud-Clone Corp. ELISAs for C5orf22 
    Cloud-Clone Corp. CLIAs for C5orf22


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR024131 UPF0489

    Graphical View of Domain Structure for InterPro Entry Q49AR2

    ProtoNet protein and cluster: Q49AR2

    UniProtKB/Swiss-Prot: CE022_HUMAN, Q49AR2
    Similarity: Belongs to the UPF0489 family


    C5orf22 for domains           About GeneDecksing


    (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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008013beta-catenin binding ----
         
    C5orf22 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C5orf22:
     Decreased Wnt reporter activit 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C5orf22 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C5orf22

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C5orf22 
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    miRNA
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    8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate C5orf22 (see all 18):
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    SwitchGear 3'UTR luciferase reporter plasmidC5orf22 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf22


    (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 C5orf22

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

    5/8 Interacting proteins for C5orf22 (Q49AR22, 3 ENSP000003268794) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WBP11Q9Y2W22, 3, ENSP000002611674MINT-67807 I2D: score=5 STRING: ENSP00000261167
    LINC00921O149783I2D: score=1 
    ZNF263O149783I2D: score=1 
    ELOF1P600023, ENSP000002524454I2D: score=4 STRING: ENSP00000252445
    HRASP011123I2D: score=1 
    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 C5orf22 (CE022)

    Search CenterWatch for drugs/clinical trials and news about C5orf22 / CE022

    (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 C5orf22 gene: 
    NM_018356.2  

    Unigene Cluster for C5orf22:

    Chromosome 5 open reading frame 22
    Hs.519246  [show with all ESTs]
    Unigene Representative Sequence: NM_018356
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000325366(uc011cnw.1 uc003jhj.4 uc003jhk.4) ENST00000510659
    ENST00000513967 ENST00000515409 ENST00000507818 ENST00000517780 ENST00000511208
    ENST00000504464 ENST00000510530 ENST00000504866 ENST00000355907(uc010iuj.3)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C5orf22
    8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate C5orf22 (see all 18):
    hsa-miR-26a-2* hsa-miR-875-3p hsa-miR-330-5p hsa-miR-1271 hsa-miR-641 hsa-miR-326 hsa-miR-29a* hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidC5orf22 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C5orf22
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C5orf22
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C5orf22
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    Primer
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    OriGene qPCR primer pairs and template standards for C5orf22
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C5orf22
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C5orf22

    Additional mRNA sequence: 

    AF038176.1 AF085882.1 AK002055.1 AK074385.1 AK299156.1 AL834427.1 BC021215.2 BC032845.1 

    7 DOTS entries:

    DT.75195436  DT.100773310  DT.413168  DT.97842866  DT.99939935  DT.102823396  DT.91742793 

    24/93 AceView cDNA sequences (see all 93):

    BC021215 AV716181 AA315446 BM788231 BQ218992 T10799 H30201 BU177952 
    BM753908 CB121068 BM718723 CD653154 AU119403 AW089529 BM829913 AA371112 
    BG034669 AL120934 AL834427 CB158209 BP355873 AU137983 BG291077 BQ214703 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for C5orf22 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11
    SP1:                                      -           -     -     -     -                                                         
    SP2:                                      -           -                                                                           
    SP3:                          -     -     -           -     -     -     -                                                         
    SP4:                          -     -     -           -                 -                                                         
    SP5:                          -     -     -           -                                                                           


    ECgene alternative splicing isoforms for C5orf22

    (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

    C5orf22 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTCTGATA
    C5orf22 Expression
    About this image


    See C5orf22 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C5orf22

    SOURCE GeneReport for Unigene cluster: Hs.519246
        SABiosciences Custom PCR Arrays for C5orf22
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf22

    (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 animals.

    Orthologs for C5orf22 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 6030458C11Rik1 , 5 RIKEN cDNA 6030458C11 gene1, 5 81.78(n)1
    78.68(a)1
      15 (5.98 cM)5
    778771  NM_029998.31  NP_084274.11 
     128081775 
    chicken
    (Gallus gallus)
    Aves C2H5orf221 chromosome 2 open reading frame, human C5orf22 69.46(n)
    69(a)
      420910  XM_418996.3  XP_418996.3 
    lizard
    (Anolis carolinensis)
    Reptilia C5orf226
    chromosome 5 open reading frame 22
    64(a)
    1 ↔ 1
    GL343408.1(210810-230599)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688012 hypothetical protein MGC68801 76.66(n)    BC060349.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc565562 hypothetical protein MGC56556 73.39(n)   393302  BC052751.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta MESR61 Misexpression suppressor of ras 6 47.15(n)
    36.97(a)
      40083  NM_079430.2  NP_524154.2 


    ENSEMBL Gene Tree for C5orf22 (if available)
    TreeFam Gene Tree for C5orf22 (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

    10/421 SNPs in C5orf22 are shown (see all 421)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs737474441,2
    C,F--31534287(+) ATTATG/ATGCAT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1459340751,2
    --31534289(+) TATGTA/GCATTA 1 -- int10--------
    rs77371681,2
    C,F,H--31534290(+) ATGTGC/TATTAT 1 -- int15Minor allele frequency- T:0.01NS EA NA 414
    rs753749421,2
    C--31534356(+) TCTTAT/CTGTGT 1 -- int11Minor allele frequency- C:0.01WA 118
    rs1413269931,2
    C,F--31534370(+) TGTGTC/ATTTTA 1 -- int11Minor allele frequency- A:0.01EU 1323
    rs2002378081,2
    C--31534376(+) TTTTAC/TAGGTT 1 -- int11Minor allele frequency- T:0.00EU 1323
    rs797341071,2
    C--31534410(+) AGGCTA/CAAAGC 2 * S stg10--------
    rs1507912291,2
    C--31534574(+) TTTGCA/TGTAGA 1 -- int10--------
    rs1861448181,2
    --31534691(+) TCTTAA/CAGAGC 1 -- int10--------
    rs1380969551,2
    --31534746(+) TGCAAC/TTATTA 1 -- int10--------

    HapMap Linkage Disequilibrium report for C5orf22 (31532373 - 31555165 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C5orf22:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv34132CNV Loss18971310
    nsv830249CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
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    (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

    C5orf22 for disorders           About MalaCards

    C5orf22 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C5orf22

    Export disorders for C5orf22 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 C5orf22 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with C5orf22)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    7. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    9. A genome-wide association study of sporadic ALS in a homogenous Irish population. (PubMed id 18057069)4 Cronin S....Hardiman O. (2008)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (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: 55322 HGNC: 25639 AceView: FLJ11193 Ensembl:ENSG00000082213 euGenes: HUgn55322
    ECgene: C5orf22 H-InvDB: C5orf22

    (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 C5orf22 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 C5orf22 gene:
    Search GeneIP for patents involving C5orf22

    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
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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