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    CCDC22 coiled-coil domain containing 22 [ Homo sapiens (human) ]

    Gene ID: 28952, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC22provided by HGNC
    Official Full Name
    coiled-coil domain containing 22provided by HGNC
    Primary source
    HGNC:HGNC:28909
    See related
    Ensembl:ENSG00000101997 MIM:300859; AllianceGenome:HGNC:28909
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JM1; RTSC2; CXorf37
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 9.7), lymph node (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC22 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49235470..49250520)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48646429..48662382)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49091930..49106981)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:49065732-49066931 Neighboring gene calcium voltage-gated channel subunit alpha1 F Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:49086994-49087652 Neighboring gene heat shock protein family B (small) member 1 pseudogene 2 Neighboring gene CRISPRi-FlowFISH-validated GATA1 regulatory element 2 Neighboring gene forkhead box P3 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:49125345-49125844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20845 Neighboring gene FOXP3 regulating long intergenic non-coding RNA Neighboring gene protein phosphatase 1 regulatory subunit 3F Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49133671-49134170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29638

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus. D'Amico F, et al. Immunol Lett, 2017 Jan. PMID 27888057, Free PMC Article
    2. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Voineagu I, et al. Mol Psychiatry, 2012 Jan. PMID 21826058, Free PMC Article
    3. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Kolanczyk M, et al. Eur J Hum Genet, 2015 May. PMID 24916641, Free PMC Article
    4. CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women. de Oliveira Francisco D, et al. J Assist Reprod Genet, 2017 Jul. PMID 28470452, Free PMC Article
    5. Systematically generated antibodies against human gene products: high throughput screening on sections from the rat nervous system. Mulder J, et al. Neuroscience, 2007 Jun 8. PMID 17478047

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
      Title: Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
    2. SNPs within the CCDC22 gene are associated with increased susceptibility to endometriosis in Brazilian women.
      Title: CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women.
    3. Our results suggest that rs2294020 is associated with the risk of several autoimmune diseases in European populations, specifically with diseases that present themselves, among else, in the skin.
      Title: Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus.
    4. CCDC22 mutation is associated with hypercholesterolemia.
      Title: CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
    5. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
      Title: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
    6. CCDC22 participates in NF-kappaB activation and its deficiency leads to decreased IkappaB turnover
      Title: CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
    7. This study demonistrated that CCDC22 is a novel candidate gene for syndromic X-linked intellectual disability.
      Title: CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.
    8. Identifies the homologous mouse protein as a copine-binding protein.
      Title: Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Ritscher-Schinzel syndrome 2
    MedGen: C4225419 OMIM: 300963 GeneReviews: Ritscher-Schinzel Syndrome
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cullin family protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cullin family protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoplasmic sequestering of NF-kappaB IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular copper ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 22

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021311.2 RefSeqGene

      Range
      5006..20056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014008.5 → NP_054727.1  coiled-coil domain-containing protein 22

      See identical proteins and their annotated locations for NP_054727.1

      Status: REVIEWED

      Source sequence(s)
      AJ005890, BC000972, DC340647
      Consensus CDS
      CCDS14322.1
      UniProtKB/Swiss-Prot
      A8K7G1, O60826
      UniProtKB/TrEMBL
      B7ZAR0
      Related
      ENSP00000365401.3, ENST00000376227.4
      Conserved Domains (1) summary
      pfam05667
      Location:1 → 590
      DUF812; Protein of unknown function (DUF812)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      49235470..49250520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272599.5 → XP_005272656.1  coiled-coil domain-containing protein 22 isoform X1

      UniProtKB/TrEMBL
      B7ZAR0
      Conserved Domains (1) summary
      pfam05667
      Location:1 → 589
      DUF812; Protein of unknown function (DUF812)

    RNA

    1. XR_430506.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48646429..48662382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326912.1 → XP_054182887.1  coiled-coil domain-containing protein 22 isoform X2

      UniProtKB/Swiss-Prot
      A8K7G1, O60826
      UniProtKB/TrEMBL
      B7ZAR0

    2. XM_054326913.1 → XP_054182888.1  coiled-coil domain-containing protein 22 isoform X1

      UniProtKB/TrEMBL
      B7ZAR0

    RNA

    1. XR_008485477.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60826.1 GenPept UniProtKB/Swiss-Prot:O60826

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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