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A repository for genes associated with endometriosis

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Gene id 1182
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol CLCN3   Gene   UCSC   Ensembl
Aliases CLC3, ClC-3
Gene name chloride voltage-gated channel 3
Alternate names H(+)/Cl(-) exchange transporter 3, chloride channel 3, chloride channel protein 3, chloride channel, voltage-sensitive 3, chloride transporter ClC-3,
Gene location 4q33 (134546397: 134546327)     Exons: 1     NC_000023.11
Gene summary(Entrez) 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 domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
OMIM 600580

Protein Summary
Protein general information P51790  

Name: H(+)/Cl(-) exchange transporter 3 (Chloride channel protein 3) (ClC-3) (Chloride transporter ClC-3)

Length: 818  Mass: 90,966

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 MESEQLFHRGYYRNSYNSITSASSDEELLDGAGVIMDFQTSEDDNLLDGDTAVGTHYTMTNGGSINSSTHLLDLL
DEPIPGVGTYDDFHTIDWVREKCKDRERHRRINSKKKESAWEMTKSLYDAWSGWLVVTLTGLASGALAGLIDIAA
DWMTDLKEGICLSALWYNHEQCCWGSNETTFEERDKCPQWKTWAELIIGQAEGPGSYIMNYIMYIFWALSFAFLA
VSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLMIKTITLVLAVASGLSLGKEGPLVHVACCCGNIFSYLF
PKYSTNEAKKREVLSAASAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFVLRSINPFGNSRLV
LFYVEYHTPWYLFELFPFILLGVFGGLWGAFFIRANIAWCRRRKSTKFGKYPVLEVIIVAAITAVIAFPNPYTRL
NTSELIKELFTDCGPLESSSLCDYRNDMNASKIVDDIPDRPAGIGVYSAIWQLCLALIFKIIMTVFTFGIKVPSG
LFIPSMAIGAIAGRIVGIAVEQLAYYHHDWFIFKEWCEVGADCITPGLYAMVGAAACLGGVTRMTVSLVVIVFEL
TGGLEYIVPLMAAVMTSKWVGDAFGREGIYEAHIRLNGYPFLDAKEEFTHTTLAADVMRPRRNDPPLAVLTQDNM
TVDDIENMINETSYNGFPVIMSKESQRLVGFALRRDLTIAIESARKKQEGIVGSSRVCFAQHTPSLPAESPRPLK
LRSILDMSPFTVTDHTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDILRHMAQTANQDPASIMFN
Structural information
Protein Domains
 CBS (658-722)
CBS (755-812)

Motifs
 Selectivity filter(238-242)
Selectivity filter(280-284)
Selectivity filter(525-529)
Interpro:  IPR000644 IPR014743 IPR001807 IPR002245
Prosite:   PS51371

Pfam:  		 PF00571 PF00654
STRING:   ENSP00000261514;
Other Databases GeneCards:  CLCN3;  Malacards:  CLCN3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000139 Golgi membrane
 IEA cellular_component
GO:0005247 voltage-gated chloride ch
annel activity
 IEA molecular_function
GO:0005254 chloride channel activity
 IDA molecular_function
GO:0005254 chloride channel activity
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005769 early endosome
 IDA cellular_component
GO:0005770 late endosome
 IDA cellular_component
GO:0005794 Golgi apparatus
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0006810 transport
 TAS biological_process
GO:0006885 regulation of pH
 TAS biological_process
GO:0008021 synaptic vesicle
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009986 cell surface
 NAS cellular_component
GO:0012506 vesicle membrane
 IDA cellular_component
GO:0015297 antiporter activity
 IEA molecular_function
GO:0016020 membrane
 IDA cellular_component
GO:0016021 integral component of mem
brane
 TAS cellular_component
GO:0016324 apical plasma membrane
 IEA cellular_component
GO:0030141 secretory granule
 IDA cellular_component
GO:0030165 PDZ domain binding
 IDA molecular_function
GO:0030658 transport vesicle membran
e
 IEA cellular_component
GO:0031410 cytoplasmic vesicle
 IDA cellular_component
GO:0031901 early endosome membrane
 IEA cellular_component
GO:0031902 late endosome membrane
 IEA cellular_component
GO:0042581 specific granule
 IDA cellular_component
GO:0042803 protein homodimerization
activity
 NAS molecular_function
GO:0045335 phagocytic vesicle
 IDA cellular_component
GO:0045794 negative regulation of ce
ll volume
 IMP biological_process
GO:0046982 protein heterodimerizatio
n activity
 IDA molecular_function
GO:0048388 endosomal lumen acidifica
tion
 TAS biological_process
GO:0072320 volume-sensitive chloride
channel activity
 IMP molecular_function
GO:1902476 chloride transmembrane tr
ansport
 IDA biological_process
GO:1903959 regulation of anion trans
membrane transport
 IEA biological_process
GO:0000139 Golgi membrane
 IEA cellular_component
GO:0000166 nucleotide binding
 IEA molecular_function
GO:0005216 ion channel activity
 IEA molecular_function
GO:0005216 ion channel activity
 IEA molecular_function
GO:0005244 voltage-gated ion channel
activity
 IEA molecular_function
GO:0005247 voltage-gated chloride ch
annel activity
 IEA molecular_function
GO:0005247 voltage-gated chloride ch
annel activity
 IEA molecular_function
GO:0005247 voltage-gated chloride ch
annel activity
 TAS molecular_function
GO:0005254 chloride channel activity
 IEA molecular_function
GO:0005254 chloride channel activity
 IDA molecular_function
GO:0005254 chloride channel activity
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005768 endosome
 IEA cellular_component
GO:0005769 early endosome
 IDA cellular_component
GO:0005770 late endosome
 IDA cellular_component
GO:0005794 Golgi apparatus
 IEA cellular_component
GO:0005794 Golgi apparatus
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0006810 transport
 IEA biological_process
GO:0006810 transport
 TAS biological_process
GO:0006811 ion transport
 IEA biological_process
GO:0006811 ion transport
 IEA biological_process
GO:0006821 chloride transport
 IEA biological_process
GO:0006821 chloride transport
 IEA biological_process
GO:0006885 regulation of pH
 TAS biological_process
GO:0008021 synaptic vesicle
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009986 cell surface
 NAS cellular_component
GO:0012506 vesicle membrane
 IDA cellular_component
GO:0015297 antiporter activity
 IEA molecular_function
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IDA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 TAS cellular_component
GO:0016324 apical plasma membrane
 IEA cellular_component
GO:0030141 secretory granule
 IDA cellular_component
GO:0030165 PDZ domain binding
 IDA molecular_function
GO:0030658 transport vesicle membran
e
 IEA cellular_component
GO:0031410 cytoplasmic vesicle
 IEA cellular_component
GO:0031410 cytoplasmic vesicle
 IDA cellular_component
GO:0031901 early endosome membrane
 IEA cellular_component
GO:0031902 late endosome membrane
 IEA cellular_component
GO:0034220 ion transmembrane transpo
rt
 IEA biological_process
GO:0034765 regulation of ion transme
mbrane transport
 IEA biological_process
GO:0042581 specific granule
 IDA cellular_component
GO:0042803 protein homodimerization
activity
 NAS molecular_function
GO:0045335 phagocytic vesicle
 IDA cellular_component
GO:0045794 negative regulation of ce
ll volume
 IMP biological_process
GO:0046982 protein heterodimerizatio
n activity
 IDA molecular_function
GO:0048388 endosomal lumen acidifica
tion
 TAS biological_process
GO:0055085 transmembrane transport
 IEA biological_process
GO:0072320 volume-sensitive chloride
channel activity
 IMP molecular_function
GO:1902476 chloride transmembrane tr
ansport
 IEA biological_process
GO:1902476 chloride transmembrane tr
ansport
 IDA biological_process
GO:1903959 regulation of anion trans
membrane transport
 IEA biological_process
GO:0005247 voltage-gated chloride ch
annel activity
 TAS molecular_function
GO:0005254 chloride channel activity
 IDA molecular_function
GO:0005254 chloride channel activity
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005769 early endosome
 IDA cellular_component
GO:0005770 late endosome
 IDA cellular_component
GO:0005794 Golgi apparatus
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0006810 transport
 TAS biological_process
GO:0006885 regulation of pH
 TAS biological_process
GO:0008021 synaptic vesicle
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009986 cell surface
 NAS cellular_component
GO:0012506 vesicle membrane
 IDA cellular_component
GO:0016020 membrane
 IDA cellular_component
GO:0016021 integral component of mem
brane
 TAS cellular_component
GO:0030141 secretory granule
 IDA cellular_component
GO:0030165 PDZ domain binding
 IDA molecular_function
GO:0031410 cytoplasmic vesicle
 IDA cellular_component
GO:0042581 specific granule
 IDA cellular_component
GO:0042803 protein homodimerization
activity
 NAS molecular_function
GO:0045335 phagocytic vesicle
 IDA cellular_component
GO:0045794 negative regulation of ce
ll volume
 IMP biological_process
GO:0046982 protein heterodimerizatio
n activity
 IDA molecular_function
GO:0048388 endosomal lumen acidifica
tion
 TAS biological_process
GO:0072320 volume-sensitive chloride
channel activity
 IMP molecular_function
GO:1902476 chloride transmembrane tr
ansport
 IDA biological_process

Diseases

Associated diseases References
Endometriosis INFBASE26965430

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26965430 Endometrio
sis

MMP-9
CLCN3
 Show abstract