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

CCDC22 Gene

protein-coding   GIFtS: 52
GCID: GC0XP049092

Coiled-Coil Domain Containing 22

(Previous name: chromosome X open reading frame 37)
(Previous symbol: CXorf37)
  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
Coiled-Coil Domain Containing 221 2
CXorf371 2 3
Chromosome X Open Reading Frame 371
Coiled-Coil Domain-Containing Protein 222

External Ids:    HGNC: 289091   Entrez Gene: 289522   Ensembl: ENSG000001019977   OMIM: 3008595   UniProtKB: O608263   

Export aliases for CCDC22 gene to outside databases

Previous GC identifers: GC0XP048849 GC0XP048978 GC0XP046750


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

Entrez Gene summary for CCDC22 Gene:
This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of
NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper
metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which
are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been
identified as a novel candidate gene for syndromic X-linked intellectual disability. (provided by RefSeq, Aug
2013)

GeneCards Summary for CCDC22 Gene: 
CCDC22 (coiled-coil domain containing 22) is a protein-coding gene. Diseases associated with CCDC22 include intellectual disability, and hepatitis b. GO annotations related to this gene include molecular_function.




(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_000023.10  NT_079573.4  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC22 gene promoter:
         E2F-4   E2F-3a   E2F-5   Sp1   AP-1   Nkx2-5   E2F-2   E2F   E2F-1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC22 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC22

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC22


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

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

CCDC22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC22 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP049092:  view genomic region     (about GC identifiers)

Start:
49,091,927 bp from pter      End:
49,106,987 bp from pter
Size:
15,061 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: CCD22_HUMAN, O60826 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 22  
Size: 627 amino acids; 70756 Da
Subunit: Interacts with CPNE1 and CPNE4 (By similarity)
Secondary accessions: A8K7G1

Explore the universe of human proteins at neXtProt for CCDC22: NX_O60826

Explore proteomics data for CCDC22 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60826

  • CCDC22 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC22 Protein Expression
    REFSEQ proteins: NP_054727.1  
    ENSEMBL proteins: 
     ENSP00000365401  

    Human Recombinant Protein Products for CCDC22: 
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    Cloud-Clone Corp. Proteins for CCDC22 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    CCDC22 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR008530 DUF812

    Graphical View of Domain Structure for InterPro Entry O60826

    ProtoNet protein and cluster: O60826

    UniProtKB/Swiss-Prot: CCD22_HUMAN, O60826
    Similarity: Belongs to the CCDC22 family


    CCDC22 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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    CCDC22 for ontologies           About GeneDecksing


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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 CCDC22

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/14 Interacting proteins for CCDC22 (O608263 ENSP000003654014) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLOC1S6Q9UL453, ENSP000002205314I2D: score=1 STRING: ENSP00000220531
    CPNE1Q998293, ENSP000003172574I2D: score=2 STRING: ENSP00000317257
    CCDC53Q9Y3C03I2D: score=5 
    EXOC1Q9NV703I2D: score=5 
    MTMR9Q96QG73I2D: score=5 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    CCDC22 for ontologies           About GeneDecksing



    (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 CCDC22 (CCD22)

    Search CenterWatch for drugs/clinical trials and news about CCDC22 / CCD22

    (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 CCDC22 gene: 
    NM_014008.4  

    Unigene Cluster for CCDC22:

    Coiled-coil domain containing 22
    Hs.26333  [show with all ESTs]
    Unigene Representative Sequence: NM_014008
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376227(uc011mna.2 uc004dnd.2) ENST00000496651 ENST00000490300
    ENST00000492334
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CCDC22:
    hsa-miR-548g hsa-miR-450b-3p
    SwitchGear 3'UTR luciferase reporter plasmidCCDC22 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Additional mRNA sequence: 

    AJ005890.1 AK291976.1 AK298264.1 AK316375.1 BC000972.2 BC011675.2 

    4 DOTS entries:

    DT.210533  DT.100736036  DT.95100152  DT.97785205 

    24/125 AceView cDNA sequences (see all 125):

    BX333378 BM994660 BE045372 NM_014008 CR611380 BM126585 AW087463 BQ109453 
    BQ689457 BQ188624 CR598915 BX283096 BC011675 BM930782 AI439692 BU857824 
    BF062965 BQ918356 BE503433 BU857192 AW771280 CR610841 BQ057037 BC000972 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC22 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
    SP1:                          -                       -                                                                                             
    SP2:                          -                       -                                                                                             
    SP3:                                                                                                                                                
    SP4:                                                  -                                                                                             
    SP5:                          -           -           -                                                                                             


    ECgene alternative splicing isoforms for CCDC22

    (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

    CCDC22 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGGAGCTC
    CCDC22 Expression
    About this image


    See CCDC22 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC22

    SOURCE GeneReport for Unigene cluster: Hs.26333

    UniProtKB/Swiss-Prot: CCD22_HUMAN, O60826
    Tissue specificity: Widely expressed in adult tissues and in fetal liver and brain, with highest levels in
    prostate and lowest in skeletal muscle

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    In Situ
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    (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 eukaryotes.

    Orthologs for CCDC22 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc221 , 5 coiled-coil domain containing 221, 5 85.7(n)1
    88.04(a)1
      X (3.42 cM)5
    546381  NM_138603.31  NP_613069.31 
     75938095 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC226
    coiled-coil domain containing 22
    58(a)
    1 ↔ 1
    2(89071055-89108825)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687572 hypothetical protein MGC68757 74.2(n)    BC060491.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.149172 Transcribed sequence with moderate similarity to protein more 75.4(n)    AL921474.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG99511 CG9951 44.95(n)
    30.56(a)
      39888  NM_140672.3  NP_648929.1 
    worm
    (Caenorhabditis elegans)
    Secernentea R08E3.36
    Protein R08E3.3, isoform b
    20(a)
    1 ↔ 1
    X(4818599-4821708)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G558301 hypothetical protein 44.29(n)
    33.96(a)
      842033  NM_001198315.1  NP_001185244.1 


    ENSEMBL Gene Tree for CCDC22 (if available)
    TreeFam Gene Tree for CCDC22 (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

    10/262 SNPs in CCDC22 are shown (see all 262)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0659124
    ----see VAR_0659122 T A mis40--------
    rs353621171,2
    C--46747415(-) AAAAA-/ATTGAC 1 -- us2k10--------
    rs1127567041,2
    C--46748352(+) CGCTCG/ACAGAA 1 -- ut511Minor allele frequency- A:0.00CSA 1
    rs2005883301,2
    C--46748568(+) CACCCA/CCGAAG 1 -- int10--------
    rs718965901,2
    C--46748710(+) ACACA-/CACACG
            
    CACAC
    1 -- int10--------
    rs59532791,2
    C,A--46748715(+) CACACG/ACACAC 1 -- int12Minor allele frequency- A:0.33NA CSA 3
    rs70593811,2
    C--46748725(+) cacacG/Acacgc 1 -- int11Minor allele frequency- A:0.00CSA 1
    rs1125682671,2
    C--46748727(+) CACACA/C/GCGCAC 1 -- int10--------
    rs1459613061,2
    C--46748781(+) ATCCTA/TTAACC 1 -- int10--------
    rs573886891,2
    C--46749068(+) TTTTT-/TCCTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for CCDC22 (49091927 - 49106987 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CCDC22:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6895CNV Insertion18451855
    nsv528292CNV Gain19592680
    nsv471602CNV Gain15918152
    esv32909CNV Gain+Loss17666407
    nsv469734CNV Complex16826518


    Human Gene Mutation Database (HGMD): CCDC22

    Locus Specific Mutation Databases (LSDB): CCDC22
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC22
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC22

    (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
    OMIM gene information: 300859    OMIM disorders: --

    UniProtKB/Swiss-Prot: CCD22_HUMAN, O60826
  • Note=May be involved in X-linked syndromic mental retardation (PubMed:21826058). CCDC22 expression has
    been found to be down-regulated in a family with a phenotype consistent with X-linked syndromic mental
    retardation, and carrying variant Ala-17. In addition to intellectual disability, affected individuals have
    cardiac and skeletal abnormalities

  • 7 diseases for CCDC22:    About MalaCards
    intellectual disability    hepatitis b    mental retardation    neuronitis
    hepatitis    alzheimer's disease    prostatitis


    CCDC22 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCDC22
    Human Genome Epidemiology (HuGE) Navigator: CCDC22 (3 documents)

    Export disorders for CCDC22 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 CCDC22 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with CCDC22)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. School of Medicine, University of California, Los Angeles, CA, USA. (PubMed id 21826058)1, 2 Voineagu I....Geschwind D. (2011)
    2. Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk. (PubMed id 20398921)1, 4 Suttner K....Kabesch M. (2010)
    3. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (2009)
    4. 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. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    6. CCDC22 deficiency in humans blunts activation of proin flammatory NF-kB signaling. (PubMed id 23563313)1 Starokadomskyy P....Burstein E. (2013)
    7. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35. (PubMed id 22070227)1 Harbour M.E....Seaman M.N. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 28952 HGNC: 28909 AceView: CXorf37 Ensembl:ENSG00000101997 euGenes: HUgn28952
    ECgene: CCDC22 H-InvDB: CCDC22

    (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 CCDC22 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 CCDC22 gene:
    Search GeneIP for patents involving CCDC22

    GeneCards and IP:
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