CCDC115 (coiled-coil domain containing 115)

2019-04-01  

Identity

HGNC
LOCATION
2q21.1
LOCUSID
ALIAS
CDG2O,ccp1

Other Information

Locus ID:

NCBI: 84317
MIM: 613734
HGNC: 28178
Ensembl: ENSG00000136710

Variants:

dbSNP: 84317
ClinVar: 84317
TCGA: ENSG00000136710
COSMIC: CCDC115

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136710ENST00000259229Q96NT0
ENSG00000136710ENST00000259229A0A024QZZ6
ENSG00000136710ENST00000409127B8ZZ99
ENSG00000136710ENST00000442217F8WCZ3
ENSG00000136710ENST00000651709Q96NT0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
346268412022Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.5
346268412022Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.5
320435652020Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.0
325106132020Genetic screens reveal CCDC115 as a modulator of erythroid iron and heme trafficking.9
320435652020Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.0
325106132020Genetic screens reveal CCDC115 as a modulator of erythroid iron and heme trafficking.9
297595922018CCDC115-CDG: A new rare and misleading inherited cause of liver disease.11
298909522018Modifier locus mapping of a transgenic F2 mouse population identifies CCDC115 as a novel aggressive prostate cancer modifier gene in humans.8
297595922018CCDC115-CDG: A new rare and misleading inherited cause of liver disease.11
298909522018Modifier locus mapping of a transgenic F2 mouse population identifies CCDC115 as a novel aggressive prostate cancer modifier gene in humans.8
282966332017The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.53
282966332017The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.53
268333322016CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.46
268333322016CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.46

Citation

Dessen P

CCDC115 (coiled-coil domain containing 115)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57891/ccdc115-(coiled-coil-domain-containing-115)