Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1182
Gene name Gene Name - the full gene name approved by the HGNC.
Chloride voltage-gated channel 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLCN3
Synonyms (NCBI Gene) Gene synonyms aliases
CLC3, ClC-3, NEDHYBA, NEDSBA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDHYBA, NEDSBA
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domai
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002737 hsa-miR-1-3p Microarray 15685193
MIRT006176 hsa-miR-15a-5p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot 21880628
MIRT006176 hsa-miR-15a-5p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot 21880628
MIRT006176 hsa-miR-15a-5p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot 21880628
MIRT006176 hsa-miR-15a-5p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot 21880628
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005247 Function Voltage-gated chloride channel activity IBA 21873635
GO:0005254 Function Chloride channel activity IDA 11274166
GO:0005254 Function Chloride channel activity TAS 12471024
GO:0005515 Function Protein binding IPI 12471024
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600580 2021 ENSG00000109572
Protein
UniProt ID P51790
Protein name H(+)/Cl(-) exchange transporter 3 (Chloride channel protein 3) (ClC-3) (Chloride transporter ClC-3)
Protein function [Isoform 1]: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (By similarity). The CLC channel family contains both chloride channels and proton-coupled anion transporte
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00654 Voltage_CLC 220 623 Voltage gated chloride channel Family
PF00571 CBS 654 718 CBS domain Domain
PF00571 CBS 751 806 CBS domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed primarily in tissues derived from neuroectoderm. Within the brain, its expression is particularly evident in the hippocampus, olfactory cortex, and olfactory bulb. Highly expressed in aortic and coronary vascular smooth muscl
Sequence
MESEQLFHRGYYRNSYNSITSASSDEELLDGAGVIMDFQTSEDDNLLDGDTAVGTHYTMT
NGGSINSSTHLLDLLDEPIPGVGTYDDFHTIDWVREKCKDRERHRRINSKKKESAWEMTK
SLYDAWSGWLVVTLTGLASGALAGLIDIAADWMTDLKEGICLSALWYNHEQCCWGSNETT
FEERDKCPQWKTWAELIIGQAEGPGSYIMNYIMYIFWALSFAFLAVSLVKVFAPYACGSG
IPEIKTILSGFIIRGYLGKWTLMIKTITLVLAVASGLSLGKEGPLVHVACCCGNIFSYLF
PKYSTNEAKKREVLSAASAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAA
FVLRSINPFGNSRLVLFYVEYHTPWYLFELFPFILLGVFGGLWGAFFIRANIAWCRRRKS
TKFGKYPVLEVIIVAAITAVIAFPNPYTRLNTSELIKELFTDCGPLESSSLCDYRNDMNA
SKIVDDIPDRPAGIGVYSAIWQLCLALIFKIIMTVFTFGIKVPSGLFIPSMAIGAIAGRI
VGIAVEQLAYYHHDWFIFKEWCEVGADCITPGLYAMVGAAACLGGVTRMTVSLVVIVFEL
TGGLEYIVPLMAAVMTSKWVGDA
FGREGIYEAHIRLNGYPFLDAKEEFTHTTLAADVMRP
RRNDPPLAVLTQDNMTVDDIENMINETSYNGFPVIMSKESQRLVGFALRRDLTIAIES
AR
KKQEGIVGSSRVCFAQHTPSLPAESPRPLKLRSILDMSPFTVTDHTPMEIVVDIFRKLGL
RQCLVTHNGRLLGIITKKDILRHMAQ
TANQDPASIMFN
Sequence length 818
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Neutrophil extracellular trap formation  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
21364753
Glioma Glioma, mixed gliomas, Malignant Glioma rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499
View all (13 more)
12843258
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
30285260, 26198764, 28540026, 29483656, 28991256, 25056061
Unknown
Disease term Disease name Evidence References Source
Nasopharyngeal carcinoma Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 22108225 ClinVar, CBGDA
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Asthenozoospermia Associate 27270342
Asthma Associate 25514499
Breast Neoplasms Associate 29949674
Carcinoma Non Small Cell Lung Associate 36069232
Carcinoma Ovarian Epithelial Associate 33765585
Cardiomyopathy Dilated Associate 24339868
Colorectal Neoplasms Associate 35817785
Familial Primary Pulmonary Hypertension Associate 35989293
Genomic Instability Associate 35817785
Glioma Associate 12843258, 20139089, 22049206, 23261316