CLCC1 (chloride channel CLIC like 1)

2014-11-01  

Identity

HGNC
LOCATION
1p13.3
LOCUSID
ALIAS
MCLC,RP32

Other Information

Locus ID:

NCBI: 23155
MIM: 617539
HGNC: 29675
Ensembl: ENSG00000121940

Variants:

dbSNP: 23155
ClinVar: 23155
TCGA: ENSG00000121940
COSMIC: CLCC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121940ENST00000302500Q96S66
ENSG00000121940ENST00000348264Q96S66
ENSG00000121940ENST00000356970Q96S66
ENSG00000121940ENST00000356970A0A024R0G0
ENSG00000121940ENST00000369968Q96S66
ENSG00000121940ENST00000369969Q96S66
ENSG00000121940ENST00000369970Q96S66
ENSG00000121940ENST00000369970A0A024R095
ENSG00000121940ENST00000369976Q5T1P5

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445048NauseaDiseaseClinicalAnnotationassociatedPD
PA446051VomitingDiseaseClinicalAnnotationassociatedPD
PA452618opioidsChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
379168862024Mutation and clinical analysis of the CLCC1 gene in amyotrophic lateral sclerosis patients from Central South China.1
386215042024Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM).0
379168862024Mutation and clinical analysis of the CLCC1 gene in amyotrophic lateral sclerosis patients from Central South China.1
386215042024Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM).0
301571722018Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.23
301571722018Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.23
204160772010Identification of type 2 diabetes-associated combination of SNPs using support vector machine.31
204160772010Identification of type 2 diabetes-associated combination of SNPs using support vector machine.31

Citation

Dessen P

CLCC1 (chloride channel CLIC like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61851/js/lib/img/logo-atlas-4.svg