CCDC22 (coiled-coil domain containing 22)

2014-11-01 Affiliation

Identity

HGNC

CCDC22

LOCATION

Xp11.23

LOCUSID

28952

ALIAS

CXorf37,JM1,RTSC2

FUSION GENES

Show Gene Fusions

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	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)