Identity
HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
CXorf37,JM1,RTSC2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 28952
MIM: 300859
HGNC: 28909
Ensembl: ENSG00000101997
Variants:
dbSNP: 28952
ClinVar: 28952
TCGA: ENSG00000101997
COSMIC: CCDC22
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000101997 | ENST00000376227 | O60826 |
| ENSG00000101997 | ENST00000376227 | A0A024QZ03 |
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162263533 | nephrotoxicity | Disease | VariantAnnotation | not associated | PD | 27747372 | |
| PA165817016 | Kidney Transplantation | Disease | VariantAnnotation | not associated | PD | 27747372 | |
| PA451578 | tacrolimus | Chemical | VariantAnnotation | not associated | PD | 27747372 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36130690 | 2022 | Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes. | 1 |
| 36130690 | 2022 | Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes. | 1 |
| 27888057 | 2017 | Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus. | 4 |
| 28470452 | 2017 | CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women. | 2 |
| 27888057 | 2017 | Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus. | 4 |
| 28470452 | 2017 | CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women. | 2 |
| 26965651 | 2016 | CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL. | 90 |
| 26965651 | 2016 | CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL. | 90 |
| 24916641 | 2015 | Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. | 19 |
| 24916641 | 2015 | Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. | 19 |
| 23563313 | 2013 | CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. | 44 |
| 23563313 | 2013 | CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. | 44 |
| 21826058 | 2012 | CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. | 32 |
| 21826058 | 2012 | CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. | 32 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
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-(coiled-coil-domain-containing-22)
