Property Summary

NCBI Gene PubMed Count 21
PubMed Score 31.58
PubTator Score 29.97

Knowledge Summary

Patent (19,634)

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
oligodendroglioma 2849 4.02381556872988E-15
pilocytic astrocytoma 3086 9.35630539809587E-9
pediatric high grade glioma 2712 2.16298288892188E-7
atypical teratoid / rhabdoid tumor 4369 2.27323564886444E-7
sonic hedgehog group medulloblastoma 1482 1.05121120936746E-6
glioblastoma 5572 1.89034247683778E-5
cystic fibrosis 1670 1.05297406831649E-4
malignant mesothelioma 3163 1.51183493206723E-4
primitive neuroectodermal tumor 3031 2.0915615178422E-4
Pick disease 1893 3.66570793317765E-4
medulloblastoma, large-cell 6234 5.6915037413607E-4
adrenocortical carcinoma 1427 0.00104166157574626
active Crohn's disease 918 0.00253282362624682
ependymoma 2514 0.00444512870215033
osteosarcoma 7933 0.00486715941825645
astrocytic glioma 2241 0.00499085046122449
mucosa-associated lymphoid tissue lymphoma 480 0.00764709103187841
active ulcerative colitis 477 0.00806910301310126
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0182278610056323
subependymal giant cell astrocytoma 2287 0.0408005274016495
Disease Target Count Z-score Confidence
substance-related disorder 105 0.0 1.0
Disease Target Count Z-score Confidence
Intellectual disability 573 0.0 4.0

Expression

Synonym

Accession P51793 A1L3U1 B7Z5Z4 Q9UBU1
Symbols CLC4
ClC-4
MRX15
MRX49
ClC-4A

Gene

  Ortholog (9)

Species Source
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Platypus OMA Inparanoid
Chicken OMA Inparanoid
Xenopus OMA Inparanoid

Gene RIF (10)

PMID Text
23647072 This study performed whole exome sequencing demonistrated that the true de novo variants represent mutations in genes (KCNH5, CLCN4, and ARHGEF15) not previously associated with epilepsies in humans.
21354396 the voltage dependence of uncoupled ClC-4 by protons and anions
20087350 CLCN4 is a novel driver of colon cancer progression.
19546591 Studies showed that three novel CLC-5 mutations were identified, and mutations in OCRL1, CLC-4 and cofilin excluded in causing Dent's disease.
19364886 The proposed mechanism results in anion-dependent conversion of ClC-type exchanger into an anion channel with typical attributes of ClC anion channels.
17023393 A stretch of amino acids, residues 14-63, at the N-terminus constitutes a novel motif both necessary and sufficient for targeting hClC-4 and other membrane proteins to the endoplasmic reticulum.
16176272 crystal structure: CLIC4 appears to be able to form a redox-regulated ion channel in the absence of any partner proteins
16034421 coupled Cl-/H+ transport of ClC-4 and ClC-5 is of significant magnitude in vivo
15057754 ClC-4 is an intracellular chloride channel that stimulates copper incorporation into ceruloplasmin, probably by improving the efficiency of the ATP7B copper pump.
10564087 Vesicle acidification, exocytosis, endocytosis, and secretory pathway.

AA Sequence

MVNAGAMSGSGNLMDFLDEPFPDVGTYEDFHTIDWLREKSRDTDRHRKITSKSKESIWEFIKSLLDAWSG      1 - 70
WVVMLLIGLLAGTLAGVIDLAVDWMTDLKEGVCLSAFWYSHEQCCWTSNETTFEDRDKCPLWQKWSELLV     71 - 140
NQSEGASAYILNYLMYILWALLFAFLAVSLVRVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLLIKTVT    141 - 210
LVLVVSSGLSLGKEGPLVHVACCCGNFFSSLFSKYSKNEGKRREVLSAAAAAGVSVAFGAPIGGVLFSLE    211 - 280
EVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEYHTPWYMAELFPFILLGVFGGLWGTLFI    281 - 350
RCNIAWCRRRKTTRLGKYPVLEVIVVTAITAIIAYPNPYTRQSTSELISELFNDCGALESSQLCDYINDP    351 - 420
NMTRPVDDIPDRPAGVGVYTAMWQLALALIFKIVVTIFTFGMKIPSGLFIPSMAVGAIAGRMVGIGVEQL    421 - 490
AYHHHDWIIFRNWCRPGADCVTPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAVTSK    491 - 560
WVADAFGKEGIYEAHIHLNGYPFLDVKDEFTHRTLATDVMRPRRGEPPLSVLTQDSMTVEDVETLIKETD    561 - 630
YNGFPVVVSRDSERLIGFAQRRELILAIKNARQRQEGIVSNSIMYFTEEPPELPANSPHPLKLRRILNLS    631 - 700
PFTVTDHTPMETVVDIFRKLGLRQCLVTRSGRLLGIITKKDVLRHMAQMANQDPESIMFN              701 - 760
//

Text Mined References (25)

PMID Year Title
25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
23647072 2013 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
21354396 2011 Anion- and proton-dependent gating of ClC-4 anion/proton transporter under uncoupling conditions.
20087350 2010 Gene trapping identifies chloride channel 4 as a novel inducer of colon cancer cell migration, invasion and metastases.
19546591 2009 Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
19364886 2009 Channel-like slippage modes in the human anion/proton exchanger ClC-4.
18063579 2008 Determinants of anion-proton coupling in mammalian endosomal CLC proteins.
17023393 2006 The human ClC-4 protein, a member of the CLC chloride channel/transporter family, is localized to the endoplasmic reticulum by its N-terminus.
16176272 2005 Crystal structure of the soluble form of the redox-regulated chloride ion channel protein CLIC4.
16129671 2005 Identification and functional characterization of a voltage-gated chloride channel and its novel splice variant in taste bud cells.
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