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Aliases for CCDC22 Gene

Aliases for CCDC22 Gene

  • Coiled-Coil Domain Containing 22 2 3
  • CXorf37 3 4
  • Coiled-Coil Domain-Containing Protein 22 3
  • Chromosome X Open Reading Frame 37 2
  • JM1 3

External Ids for CCDC22 Gene

Previous HGNC Symbols for CCDC22 Gene

  • CXorf37

Previous GeneCards Identifiers for CCDC22 Gene

  • GC0XP048849
  • GC0XP048978
  • GC0XP049092
  • GC0XP046750

Summaries for CCDC22 Gene

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 ritscher-schinzel syndrome and syndromic x-linked intellectual disability.

UniProtKB/Swiss-Prot for CCDC22 Gene

  • Involved in regulation of NF-kappa-B signaling. Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex. May down-regulate NF-kappa-B activity via assocation with COMMD1 and involving a CUL2-dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10 (PubMed:23563313). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC22 Gene

Genomics for CCDC22 Gene

Regulatory Elements for CCDC22 Gene

Genomic Location for CCDC22 Gene

Start:
49,235,467 bp from pter
End:
49,250,526 bp from pter
Size:
15,060 bases
Orientation:
Plus strand

Genomic View for CCDC22 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC22 Gene

Proteins for CCDC22 Gene

  • Protein details for CCDC22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60826-CCD22_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 22
    Protein Accession:
    O60826
    Secondary Accessions:
    • A8K7G1

    Protein attributes for CCDC22 Gene

    Size:
    627 amino acids
    Molecular mass:
    70756 Da
    Quaternary structure:
    • Interacts with CPNE1 and CPNE4 (By similarity). Interacts with COMMD1, COMMD2 COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8, COMMD9, COMMD10. Interacts with CUL1, CUL2, CUL3, SKP1, BTRC (PubMed:23563313). Interacts with CCDC93 and C16orf62; proposed to be a component of the CCC (COMMD/CCDC22/CCDC93) complex which contains at least COMMD1 (and possibly other COMM domain-containing proteins), CCDC22, CCDC93 and C16orf62; in the complex interacts directly with CCDC93 (PubMed:25355947).

neXtProt entry for CCDC22 Gene

Proteomics data for CCDC22 Gene at MOPED

Post-translational modifications for CCDC22 Gene

  • Ubiquitination at Lys162
  • Modification sites at PhosphoSitePlus

Other Protein References for CCDC22 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC22 Gene

Domains for CCDC22 Gene

Protein Domains for CCDC22 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC22 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60826

UniProtKB/Swiss-Prot:

CCD22_HUMAN :
  • O60826
Family:
  • Belongs to the CCDC22 family.
genes like me logo Genes that share domains with CCDC22: view

No data available for Gene Families for CCDC22 Gene

Function for CCDC22 Gene

Molecular function for CCDC22 Gene

UniProtKB/Swiss-Prot Function: Involved in regulation of NF-kappa-B signaling. Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex. May down-regulate NF-kappa-B activity via assocation with COMMD1 and involving a CUL2-dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10 (PubMed:23563313). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947).

Gene Ontology (GO) - Molecular Function for CCDC22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function --
GO:0005515 protein binding IPI 23563313
GO:0097602 cullin family protein binding IDA 23563313
genes like me logo Genes that share ontologies with CCDC22: view

Animal Model Products

CRISPR Products

miRNA for CCDC22 Gene

miRTarBase miRNAs that target CCDC22

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCDC22

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CCDC22 Gene

Localization for CCDC22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC22 Gene

Endosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC22 Gene COMPARTMENTS Subcellular localization image for CCDC22 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CCDC22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with CCDC22: view

Pathways for CCDC22 Gene

SuperPathways for CCDC22 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006878 cellular copper ion homeostasis IMP 25355947
GO:0006893 Golgi to plasma membrane transport IMP 25355947
GO:0007253 cytoplasmic sequestering of NF-kappaB IMP 23563313
GO:0008150 biological_process --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with CCDC22: view

No data available for Pathways by source for CCDC22 Gene

Transcripts for CCDC22 Gene

Unigene Clusters for CCDC22 Gene

Coiled-coil domain containing 22:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCDC22

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC22 Gene

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: - - -
SP6: -
SP7:

Relevant External Links for CCDC22 Gene

GeneLoc Exon Structure for
CCDC22
ECgene alternative splicing isoforms for
CCDC22

Expression for CCDC22 Gene

mRNA expression in normal human tissues for CCDC22 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CCDC22 Gene

SOURCE GeneReport for Unigene cluster for CCDC22 Gene Hs.26333

mRNA Expression by UniProt/SwissProt for CCDC22 Gene

O60826-CCD22_HUMAN
Tissue specificity: Widely expressed in adult tissues and in fetal liver and brain, with highest levels in prostate and lowest in skeletal muscle.
genes like me logo Genes that share expressions with CCDC22: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CCDC22 Gene

Orthologs for CCDC22 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCDC22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC22 35
  • 99.59 (n)
  • 100 (a)
CCDC22 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC22 35
  • 90.08 (n)
  • 90.92 (a)
CCDC22 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC22 35
  • 89.58 (n)
  • 91.55 (a)
CCDC22 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc22 35
  • 85.7 (n)
  • 88.04 (a)
Ccdc22 16
Ccdc22 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC22 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC22 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc22 35
  • 85.68 (n)
  • 87.86 (a)
lizard
(Anolis carolinensis)
Reptilia CCDC22 36
  • 58 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68757 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc22 35
  • 58.54 (n)
  • 54.45 (a)
Str.17720 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1535 35
zebrafish
(Danio rerio)
Actinopterygii ccdc22 35
  • 60.98 (n)
  • 58.45 (a)
ccdc22 36
  • 55 (a)
OneToOne
Dr.14917 35
fruit fly
(Drosophila melanogaster)
Insecta CG9951 36
  • 30 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G55830 35
  • 44.89 (n)
  • 34.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10309 36
  • 32 (a)
OneToOne
Species with no ortholog for CCDC22:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC22 Gene

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

Paralogs for CCDC22 Gene

No data available for Paralogs for CCDC22 Gene

Variants for CCDC22 Gene

Sequence variations from dbSNP and Humsavar for CCDC22 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs2280882 -- 49,248,354(+) TGGGG(C/T)GGGGT intron-variant
rs2294016 -- 49,237,061(+) TCCTG(C/T)GATCA intron-variant
rs2294017 -- 49,237,280(+) TCCTC(C/T)TAATG intron-variant
rs2294018 -- 49,242,165(+) CTGGG(A/G)TGTGG intron-variant
rs2294019 -- 49,246,636(+) TTGTC(A/T)GTATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC22 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680
nsv469734 CNV Complex 16826518
nsv471602 CNV Gain 15918152
nsv6895 CNV Insertion 18451855

Relevant External Links for CCDC22 Gene

HapMap Linkage Disequilibrium report
CCDC22
Human Gene Mutation Database (HGMD)
CCDC22
Locus Specific Mutation Databases (LSDB)
CCDC22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC22 Gene

Disorders for CCDC22 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for CCDC22 Gene including...

Search for CCDC22 Gene in MalaCards »

UniProtKB/Swiss-Prot

CCD22_HUMAN
  • 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. {ECO:0000269 PubMed:21826058}.

Relevant External Links for CCDC22

Genetic Association Database (GAD)
CCDC22
Human Genome Epidemiology (HuGE) Navigator
CCDC22
genes like me logo Genes that share disorders with CCDC22: view

Publications for CCDC22 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J. … Lambert J.C. (Mol. Psychiatry 2009) 3 48
  4. Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk. (PMID: 20398921) Suttner K. … Kabesch M. (J. Allergy Clin. Immunol. 2010) 3 48
  5. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. School of Medicine, University of California, Los Angeles, CA, USA. (PMID: 21826058) Voineagu I. … Geschwind D. (Mol. Psychiatry 2012) 3 4

Products for CCDC22 Gene

Sources for CCDC22 Gene

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