Summary ?
GeneID53405
SymbolCLIC5
SynonymsDFNB102|DFNB103|MST130|MSTP130
Descriptionchloride intracellular channel 5
ReferenceMIM:607293|HGNC:HGNC:13517|Ensembl:ENSG00000112782|HPRD:06292|Vega:OTTHUMG00000014775
Gene typeprotein-coding
Map location6p12.3
Pascal p-value0.129
Fetal beta0.302
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.04433 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
CLIC5chr646047670CANM_001114086p.104G>CmissenseSchizophreniaDNM:Xu_2012


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI10793131 
GO:0005244voltage-gated ion channel activityIEA-
GO:0005247voltage-gated chloride channel activityIEA-
GO:0031404chloride ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0008104protein localizationIEA-
GO:0007605sensory perception of soundIEA-
GO:0007565female pregnancyTAS10793131 
GO:0006821chloride transportIDA10793131 
GO:0006811ion transportIEA-
GO:0050885neuromuscular process controlling balanceIEA-
GO:0060088auditory receptor cell stereocilium organizationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005794Golgi apparatusIEA-
GO:0005813centrosomeIEA-
GO:0005626insoluble fractionIDA10793131 
GO:0005737cytoplasmIEA-
GO:0016020membraneIEA-
GO:0015629actin cytoskeletonIDA10793131 
GO:0032420stereociliumIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
THUM SYSTOLIC HEART FAILURE UP 423283All SZGR 2.0 genes in this pathway
WAMUNYOKOLI OVARIAN CANCER GRADES 1 2 DN 6743All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 DN 830547All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS DN 3123All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY DN 434302All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720440All SZGR 2.0 genes in this pathway
BOQUEST STEM CELL DN 216143All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
MIKKELSEN IPS HCP WITH H3 UNMETHYLATED 8050All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682433All SZGR 2.0 genes in this pathway
SERVITJA ISLET HNF1A TARGETS DN 10971All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308187All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-122441944261A,m8hsa-miR-122aUGGAGUGUGACAAUGGUGUUUGU
miR-1827617671Ahsa-miR-182UUUGGCAAUGGUAGAACUCACA
miR-26124712531Ahsa-miR-26abrainUUCAAGUAAUCCAGGAUAGGC
hsa-miR-26bSZUUCAAGUAAUUCAGGAUAGGUU
miR-967617671Ahsa-miR-96brainUUUGGCACUAGCACAUUUUUGC