CLCC1 (chloride channel CLIC like 1)

2014-11-01  

Identity

HGNC
CLCC1
LOCATION
1p13.3
LOCUSID
23155
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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445048NauseaDiseaseClinicalAnnotationassociatedPD
PA446051VomitingDiseaseClinicalAnnotationassociatedPD
PA452618opioidsChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
204160772010Identification of type 2 diabetes-associated combination of SNPs using support vector machine.26
301571722018Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.6

Citation

Dessen P

CLCC1 (chloride channel CLIC like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61851/clcc1-(chloride-channel-clic-like-1)