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Aliases for CCDC22 Gene

Aliases for CCDC22 Gene

  • Coiled-Coil Domain Containing 22 2 3 5
  • CXorf37 3 4
  • Coiled-Coil Domain-Containing Protein 22 3
  • Chromosome X Open Reading Frame 37 2
  • RTSC2 3
  • JM1 3

External Ids for CCDC22 Gene

Previous HGNC Symbols for CCDC22 Gene

  • CXorf37

Previous GeneCards Identifiers for CCDC22 Gene

  • GC0XP048849
  • GC0XP048978
  • GC0XP049092
  • GC0XP046750
  • GC0XP049268
  • GC0XP049271
  • GC0XP049274
  • GC0XP049276
  • GC0XP049278
  • GC0XP049281

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 2 and Ritscher-Schinzel Syndrome 1. GO annotations related to this gene include cullin family protein binding.

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 association 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).

Additional gene information for CCDC22 Gene

No data available for CIViC summary , 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

Enhancers for CCDC22 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH048799 1.4 ENCODE dbSUPER 9.7 -434.0 -433958 3 HDGF PKNOX1 ARNT SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 ZNF143 PRICKLE3 ERAS PLP2 CCDC22 HDAC6 PIR34696
GH0XH048896 1.1 ENCODE 11.3 -337.4 -337440 3 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 FOS SP3 FTSJ1 ENSG00000204620 ENSG00000270012 PQBP1 ZNF182 HDAC6 RBM3 CCDC22 PLP2 TIMM17B
GH0XH049000 1 ENCODE 11.3 -233.4 -233359 2 PKNOX1 ATF1 ARNT SIN3A GLI4 BRCA1 YY1 GLIS2 KLF7 ATF7 ENSG00000204620 FTSJ1 ENSG00000270012 RBM3 CCDC22 PQBP1 PLP2 GRIPAP1 KCND1
GH0XH049234 1 ENCODE 0.7 +0.1 134 1 HDGF PKNOX1 ATF1 ARNT SIN3A DMAP1 ZNF2 YY1 ETS1 ELK1 CACNA1F KCND1 CCDC22 FOXP3
GH0XH049236 0.5 ENCODE 0.7 +1.6 1608 0 HDGF POLR2A CEBPG SPI1 CACNA1F CCDC22 FOXP3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC22 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC22 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000246566 234 1400 HDGF PKNOX1 ATF1 ARNT SIN3A DMAP1 ZNF2 YY1 ETS1 ZNF143

Genomic Location for CCDC22 Gene

Chromosome:
X
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

Genes around CCDC22 on UCSC Golden Path with GeneCards custom track

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

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 & Families for CCDC22 Gene

Gene Families for CCDC22 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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 association 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:0005515 protein binding IPI 23563313
GO:0097602 cullin family protein binding IDA 23563313
genes like me logo Genes that share ontologies with CCDC22: view
genes like me logo Genes that share phenotypes with CCDC22: view

Human Phenotype Ontology for CCDC22 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CCDC22 Gene

miRTarBase miRNAs that target CCDC22

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC22
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC22 Gene

Localization for CCDC22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC22 Gene

Endosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC22 gene
Compartment Confidence
nucleus 5
cytosol 5
endosome 4
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005654 nucleoplasm TAS --
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CCDC22: view

Pathways & Interactions 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:0006810 transport IEA --
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:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with CCDC22: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC22 Gene

Drugs & Compounds for CCDC22 Gene

No Compound Related Data Available

Transcripts for CCDC22 Gene

Unigene Clusters for CCDC22 Gene

Coiled-coil domain containing 22:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC22
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC22 Gene

Protein differential expression in normal tissues from HIPED for CCDC22 Gene

This gene is overexpressed in Lymph node (17.9) and Peripheral blood mononuclear cells (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCDC22 Gene



Protein tissue co-expression partners for CCDC22 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC22 Gene:

CCDC22

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.

Evidence on tissue expression from TISSUES for CCDC22 Gene

  • Liver(4.4)
  • Blood(4.3)
  • Pancreas(4.3)
  • Intestine(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC22 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • scalp
  • skull
Thorax:
  • aorta
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • ureter
  • urethra
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CCDC22: view

Primer 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 33 34
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia CCDC22 33 34
  • 90.08 (n)
dog
(Canis familiaris)
Mammalia CCDC22 33 34
  • 89.58 (n)
mouse
(Mus musculus)
Mammalia Ccdc22 33 16 34
  • 85.7 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc22 33
  • 85.68 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC22 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC22 34
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC22 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc22 33
  • 58.54 (n)
Str.17720 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68757 33
zebrafish
(Danio rerio)
Actinopterygii ccdc22 33 34
  • 60.98 (n)
Dr.14917 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1535 33
fruit fly
(Drosophila melanogaster)
Insecta CG9951 34
  • 30 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G55830 33
  • 44.89 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10309 34
  • 32 (a)
OneToOne
Species where no ortholog for CCDC22 was found in the sources mined by GeneCards:
  • 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
rs863225428 Pathogenic, Ritscher-Schinzel syndrome 2 (RTSC2) [MIM:300963] 49,235,685(+) CCGGC(A/G)CGTAA nc-transcript-variant, reference, missense
rs863225429 Pathogenic, Ritscher-Schinzel syndrome 2 (RTSC2) [MIM:300963] 49,249,543(+) GGCCT(A/G)TAAGT nc-transcript-variant, reference, missense
rs144685788 Likely benign 49,247,746(+) GAAGA(C/G/T)CCTGG nc-transcript-variant, reference, missense
rs148013438 Likely benign 49,250,661(+) CTGTG(C/T)GTGTG downstream-variant-500B, utr-variant-3-prime
rs147222955 Uncertain significance 49,249,509(+) GTCAG(A/G)ATGCC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv469734 CNV gain+loss 16826518
nsv471602 CNV gain 15918152
nsv528292 CNV gain 19592680
nsv6895 CNV insertion 18451855

Variation tolerance for CCDC22 Gene

Residual Variation Intolerance Score: 92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC22 Gene

Human Gene Mutation Database (HGMD)
CCDC22
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC22

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

Disorders for CCDC22 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CCDC22 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ritscher-schinzel syndrome 2
  • rtsc2
ritscher-schinzel syndrome 1
  • dandy-walker like malformation with atrioventricular septal defect
ritscher-schinzel syndrome
  • 3c syndrome
syndromic x-linked intellectual disability
  • syndromic intellectual disability, x-linked
intellectual disability
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CCD22_HUMAN
  • Ritscher-Schinzel syndrome 2 (RTSC2) [MIM:300963]: A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. {ECO:0000269 PubMed:21826058, ECO:0000269 PubMed:23563313, ECO:0000269 PubMed:24916641}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CCDC22

Genetic Association Database (GAD)
CCDC22
Human Genome Epidemiology (HuGE) Navigator
CCDC22
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC22
genes like me logo Genes that share disorders with CCDC22: view

No data available for Genatlas for CCDC22 Gene

Publications for CCDC22 Gene

  1. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. (PMID: 25355947) Phillips-Krawczak CA … Burstein E (Molecular biology of the cell 2015) 2 3 4 60
  2. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. (PMID: 24916641) Kolanczyk M … Horn D (European journal of human genetics : EJHG 2015) 3 4 60
  3. CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. (PMID: 23563313) Starokadomskyy P … Burstein E (The Journal of clinical investigation 2013) 3 4 60
  4. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. (PMID: 21826058) Voineagu I … Geschwind D (Molecular psychiatry 2012) 3 4 60
  5. Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk. (PMID: 20398921) Suttner K … Kabesch M (The Journal of allergy and clinical immunology 2010) 3 45 60

Products for CCDC22 Gene

Sources for CCDC22 Gene

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