Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CCDC22 contributors: mct - updated : 14-04-2021
HGNC name coiled-coil domain containing 22
HGNC id 28909
Corresponding disease
RTSC2 Ritscher-Schinzel syndrome 2
Location Xp11.23      Physical location : 49.091.926 - 49.106.985
Synonym name chromosome X open reading frame 37
Synonym symbol(s) CXorf37, JM1, RTSC2
DNA
TYPE functioning gene
STRUCTURE 15.46 kb     17 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 2333 - 627 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • both CCDC93 and CCDC22 have a shared N- terminal domain belonging to the NDC80 and NUF2-calponin homology domain (NN-CH)
  • followed by coiled-coil (CC) domains
    • HOMOLOGY
    Homologene
    FAMILY
  • CCDC22 family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • CCDC22 participates in NFKB1 activation and its deficiency leads to decreased IKBKB turnover, highlighting an important regulatory component of this pathway
  • CCDC22, CCDC93, and any of the 10 COMMD proteins, are required for retromer- and retriever-dependent protein trafficking
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • Retromer-like complex "Retriever," with COMMD1/CCDC93/CCDC22 uses a different SNX family member SNX17 for cargo recognition, that cooperates with this complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • COMMD8 acted in conjunction with CCDC22 to direct the degradation of IKBKB proteins
  • CCDC22 and CCDC93 are FAM21-interacting proteins
  • important role for both COMMD1 and CCDC22 in copper homeostasis and ATP7A trafficking
  • play a role in NFKB1 activation
  • COMMD1/CCDC22/CCDC93 regulates the phosphorylation and endosomal recruitment of the PI(3)P phosphatase MTMR2
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RTSC2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    implicated in pathogenesis of EBV-related hemophagocytic lymphohistiocytosis (EBV-HLH)and NK-cell neoplasms
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismlipidcholesterol
    COMMD1 but all other COMMDs and CCDC22, CCDC93 components may be potential targets for modulating plasma lipid levels
    ANIMAL & CELL MODELS