CCDC22 (coiled-coil domain containing 22)

2014-11-01  

Identity

HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
CXorf37,JM1,RTSC2
FUSION GENES

Other Information

Locus ID:

NCBI: 28952
MIM: 300859
HGNC: 28909
Ensembl: ENSG00000101997

Variants:

dbSNP: 28952
ClinVar: 28952
TCGA: ENSG00000101997
COSMIC: CCDC22

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101997ENST00000376227O60826
ENSG00000101997ENST00000376227A0A024QZ03

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162263533nephrotoxicityDiseaseVariantAnnotationnot associatedPD27747372
PA165817016Kidney TransplantationDiseaseVariantAnnotationnot associatedPD27747372
PA451578tacrolimusChemicalVariantAnnotationnot associatedPD27747372

References

Pubmed IDYearTitleCitations
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
125221452003Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif.35
269656512016CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.32
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
235633132013CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.24
218260582012CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.16
249166412015Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.6
203989212010Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk.4
278880572017Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus.1
284704522017CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women.1

Citation

Dessen P

CCDC22 (coiled-coil domain containing 22)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61533/ccdc22