CCDC186 (coiled-coil domain containing 186)

2003-06-01  

Identity

HGNC
LOCATION
10q25.3
LOCUSID
ALIAS
C10orf118,CCCP-1,CCCP1,golgin104
FUSION GENES

Other Information

Locus ID:

NCBI: 55088
HGNC: 24349
Ensembl: ENSG00000165813

Variants:

dbSNP: 55088
ClinVar: 55088
TCGA: ENSG00000165813
COSMIC: CCDC186

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165813ENST00000369285A0A0C4DFU7
ENSG00000165813ENST00000369286A0A0C4DFU7
ENSG00000165813ENST00000369287Q7Z3E2
ENSG00000165813ENST00000428953H0Y7V5
ENSG00000165813ENST00000648613Q7Z3E2

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
375696952023Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.0
375696952023Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.0
332591462021A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.1
332591462021A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.1

Citation

Dessen P

CCDC186 (coiled-coil domain containing 186)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/861/img/js/lib/jquery-3.5.1.min.js