U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 28952, updated on 7-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
Xp11.23
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49235470..49250520)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48646429..48662382)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. 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
  2. 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
  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: a novel candidate gene for syndromic X-linked intellectual disability. Voineagu I, et al. Mol Psychiatry, 2012 Jan. PMID 21826058, 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 (53) 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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
is_active_in cellular_component ND
No biological Data available
more info
  
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

Go to the top of the page Help
Preferred Names
coiled-coil domain-containing protein 22

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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

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

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous