Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	voltage-gated chloride channel activity	CLCNKA CLCNKB	2.58e-04	11	44	2	GO:0005247
GeneOntologyMolecularFunction	ATP-dependent activity	CLPP BLM IQCA1L MCM6 ABCA4 DNAH12 MYO7A	3.58e-04	614	44	7	GO:0140657
GeneOntologyMolecularFunction	3'-5' DNA helicase activity	BLM MCM6	5.58e-04	16	44	2	GO:0043138
GeneOntologyMolecularFunction	voltage-gated monoatomic anion channel activity	CLCNKA CLCNKB	6.32e-04	17	44	2	GO:0008308
GeneOntologyMolecularFunction	voltage-gated monoatomic ion channel activity	CATSPER3 CLCNKA CLCNKB KCNH3	6.82e-04	182	44	4	GO:0005244
GeneOntologyMolecularFunction	voltage-gated channel activity	CATSPER3 CLCNKA CLCNKB KCNH3	7.10e-04	184	44	4	GO:0022832
GeneOntologyBiologicalProcess	transepithelial chloride transport	CLCNKA CLCNKB P2RY4	1.00e-06	10	43	3	GO:0030321
GeneOntologyBiologicalProcess	DNA unwinding involved in DNA replication	BLM MCM6 GINS1	1.09e-05	21	43	3	GO:0006268
GeneOntologyBiologicalProcess	transepithelial transport	CLCNKA CLCNKB P2RY4	6.77e-05	38	43	3	GO:0070633
GeneOntologyBiologicalProcess	renal absorption	CLCNKA CLCNKB SLC5A2	1.13e-04	45	43	3	GO:0070293
GeneOntologyBiologicalProcess	nuclear DNA replication	BLM MCM6 GINS1	1.20e-04	46	43	3	GO:0033260
GeneOntologyBiologicalProcess	cell cycle DNA replication	BLM MCM6 GINS1	1.64e-04	51	43	3	GO:0044786
GeneOntologyCellularComponent	CMG complex	MCM6 GINS1	2.14e-04	11	42	2	GO:0071162
GeneOntologyCellularComponent	DNA replication preinitiation complex	MCM6 GINS1	3.03e-04	13	42	2	GO:0031261
HumanPheno	Hypokalemic hypochloremic metabolic alkalosis	CLCNKA CLCNKB	2.77e-05	3	16	2	HP:0004909
HumanPheno	Hypochloremic metabolic alkalosis	CLCNKA CLCNKB	5.53e-05	4	16	2	HP:0005977
HumanPheno	Abnormal urine chloride concentration	CLCNKA CLCNKB	9.20e-05	5	16	2	HP:0012600
HumanPheno	Hyperchloriduria	CLCNKA CLCNKB	9.20e-05	5	16	2	HP:0002914
HumanPheno	Hyperprostaglandinuria	CLCNKA CLCNKB	1.38e-04	6	16	2	HP:0003527
HumanPheno	Abnormal circulating prostaglandin circulation	CLCNKA CLCNKB	1.38e-04	6	16	2	HP:0011023
HumanPheno	Hypochloremia	CLCNKA CLCNKB	1.92e-04	7	16	2	HP:0003113
HumanPheno	Impaired renal concentrating ability	CLCNKA CLCNKB	1.92e-04	7	16	2	HP:0004727
HumanPheno	Polyuria	CLCNKA CLCNKB SLC5A2	2.34e-04	40	16	3	HP:0000103
HumanPheno	Hyperactive renin-angiotensin system	CLCNKA CLCNKB	2.56e-04	8	16	2	HP:0000841
HumanPheno	Abnormal circulating unsaturated fatty acid concentration	CLCNKA CLCNKB	2.56e-04	8	16	2	HP:0011022
HumanPheno	Abnormal circulating eicosanoid concentration	CLCNKA CLCNKB	2.56e-04	8	16	2	HP:0030361
HumanPheno	Impaired renal function	CLCNKA CLCNKB	3.29e-04	9	16	2	HP:0000087
HumanPheno	Hypokalemic metabolic alkalosis	CLCNKA CLCNKB	3.29e-04	9	16	2	HP:0001960
HumanPheno	Increased urinary potassium	CLCNKA CLCNKB	3.29e-04	9	16	2	HP:0003081
HumanPheno	Hypernatriuria	CLCNKA CLCNKB	4.10e-04	10	16	2	HP:0012605
HumanPheno	Hypokalemic alkalosis	CLCNKA CLCNKB	5.99e-04	12	16	2	HP:0001949
HumanPheno	Fetal polyuria	CLCNKA CLCNKB	5.99e-04	12	16	2	HP:0001563
Domain	Cl_channel-K	CLCNKA CLCNKB	5.18e-06	2	43	2	IPR002250
Domain	CBS	PRKAG3 CLCNKA CLCNKB	6.23e-06	16	43	3	SM00116
Domain	CBS_dom	PRKAG3 CLCNKA CLCNKB	1.26e-05	20	43	3	IPR000644
Domain	CBS	PRKAG3 CLCNKA CLCNKB	1.26e-05	20	43	3	PF00571
Domain	CBS	PRKAG3 CLCNKA CLCNKB	1.26e-05	20	43	3	PS51371
Domain	Cl-channel_core	CLCNKA CLCNKB	1.84e-04	9	43	2	IPR014743
Domain	-	CLCNKA CLCNKB	1.84e-04	9	43	2	1.10.3080.10
Domain	Voltage_CLC	CLCNKA CLCNKB	1.84e-04	9	43	2	PF00654
Domain	Cl-channel_volt-gated	CLCNKA CLCNKB	1.84e-04	9	43	2	IPR001807
Pubmed	Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney.	CLCNKA CLCNKB	1.64e-06	2	45	2	8544406
Pubmed	The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.	CLCNKA CLCNKB	1.64e-06	2	45	2	27335120
Pubmed	Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization.	CLCNKA CLCNKB	1.64e-06	2	45	2	8812470
Pubmed	A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels.	CLCNKA CLCNKB	1.64e-06	2	45	2	20805576
Pubmed	Associations between CLCNKA_B tag SNPs with essential hypertension and interactions between genetic and environmental factors in an island population in China.	CLCNKA CLCNKB	1.64e-06	2	45	2	25919862
Pubmed	Targeting kidney CLC-K channels: pharmacological profile in a human cell line versus Xenopus oocytes.	CLCNKA CLCNKB	1.64e-06	2	45	2	24863058
Pubmed	Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel.	CLCNKA CLCNKB	1.64e-06	2	45	2	9916798
Pubmed	Kidney kinetics and chloride ion pumps.	CLCNKA CLCNKB	1.64e-06	2	45	2	9916791
Pubmed	Salt wasting and deafness resulting from mutations in two chloride channels.	CLCNKA CLCNKB	1.64e-06	2	45	2	15044642
Pubmed	The IL-1 receptor accessory protein is essential for PI 3-kinase recruitment and activation.	IL18R1 PIK3CG	1.64e-06	2	45	2	15044087
Pubmed	Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.	CLCNKA CLCNKB	1.64e-06	2	45	2	38069401
Pubmed	Two highly homologous members of the ClC chloride channel family in both rat and human kidney.	CLCNKA CLCNKB	1.64e-06	2	45	2	8041726
Pubmed	A novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes.	BLM MCM6	1.64e-06	2	45	2	34370039
Pubmed	A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane.	CLCNKA CLCNKB	1.64e-06	2	45	2	18648499
Pubmed	Cl(-) channels in basolateral TAL membranes XV. Molecular heterogeneity between cortical and medullary channels.	CLCNKA CLCNKB	1.64e-06	2	45	2	11014860
Pubmed	Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.	TCF25 PSMD6 IQCA1L DNAH12 PLEC MYO7A LGALS3BP	3.27e-06	496	45	7	31343991
Pubmed	Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.	CLCNKA CLCNKB	4.91e-06	3	45	2	26013830
Pubmed	Barttin increases surface expression and changes current properties of ClC-K channels.	CLCNKA CLCNKB	4.91e-06	3	45	2	12111250
Pubmed	Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.	CLCNKA CLCNKB	4.91e-06	3	45	2	11734858
Pubmed	Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.	CLCNKA CLCNKB	4.91e-06	3	45	2	17510212
Pubmed	Barttin modulates trafficking and function of ClC-K channels.	CLCNKA CLCNKB	4.91e-06	3	45	2	16849430
Pubmed	Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.	CLCNKA CLCNKB	4.91e-06	3	45	2	18094726
Pubmed	Transcriptional regulation of the CLC-K1 promoter by myc-associated zinc finger protein and kidney-enriched Krüppel-like factor, a novel zinc finger repressor.	CLCNKA CLCNKB	4.91e-06	3	45	2	10982849
Pubmed	Induction of Mac-2BP by nerve growth factor is regulated by the PI3K/Akt/NF-kappaB-dependent pathway in the HEK293 cell line.	PIK3CG LGALS3BP	9.81e-06	4	45	2	19017490
Pubmed	Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.	CLCNKA CLCNKB	9.81e-06	4	45	2	17652939
Pubmed	Deterioration of the Medial Olivocochlear Efferent System Accelerates Age-Related Hearing Loss in Pax2-Isl1 Transgenic Mice.	CHAT MYO7A	2.45e-05	6	45	2	25990412
Pubmed	Impairment in renal medulla development underlies salt wasting in Clc-k2 channel deficiency.	CLCNKA CLCNKB	3.42e-05	7	45	2	34499620
Pubmed	Intrarenal and cellular localization of CLC-K2 protein in the mouse kidney.	CLCNKA CLCNKB	3.42e-05	7	45	2	11423561
Pubmed	In vivo analysis of Lrig genes reveals redundant and independent functions in the inner ear.	CHAT MYO7A	4.56e-05	8	45	2	24086156
Pubmed	Changing expression of chloride channels during preimplantation mouse development.	CLCNKA CLCNKB	5.86e-05	9	45	2	23115349
Pubmed	The interaction between checkpoint kinase 1 (Chk1) and the minichromosome maintenance (MCM) complex is required for DNA damage-induced Chk1 phosphorylation.	MCM6 GINS1	5.86e-05	9	45	2	25049228
Pubmed	EB1-binding-myomegalin protein complex promotes centrosomal microtubules functions.	PLEC LGALS3BP TUBGCP3	7.61e-05	63	45	3	29162697
Pubmed	Properties of the human Cdc45/Mcm2-7/GINS helicase complex and its action with DNA polymerase epsilon in rolling circle DNA synthesis.	MCM6 GINS1	1.07e-04	12	45	2	22474384
Pubmed	A Gata3-Mafb transcriptional network directs post-synaptic differentiation in synapses specialized for hearing.	CHAT MYO7A	1.47e-04	14	45	2	24327562
Pubmed	Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions.	CLPP MCM6 ECT2L PLEC ARHGAP33 LGALS3BP MPRIP	1.63e-04	916	45	7	32203420
Pubmed	MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication.	MCM6 GINS1	1.70e-04	15	45	2	19696745
Pubmed	Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.	CDAN1 MCM6	1.70e-04	15	45	2	22407294
Pubmed	Identification of proteins that may directly interact with human RPA.	MCM6 GINS1	2.20e-04	17	45	2	20679368
Pubmed	A systematic survey of carbonic anhydrase mRNA expression during mammalian inner ear development.	BMP15 CA6	3.72e-04	22	45	2	23233153
Pubmed	CHK2-BRCA1 tumor-suppressor axis restrains oncogenic Aurora-A kinase to ensure proper mitotic microtubule assembly.	BLM PSMD6 MCM6 PLEC LGALS3BP	4.33e-04	494	45	5	26831064
Pubmed	Reconstitution of human CMG helicase ubiquitylation by CUL2LRR1 and multiple E2 enzymes.	MCM6 GINS1	4.44e-04	24	45	2	34195792
Pubmed	Cellular localization and characterization of cytosolic binding partners for Gla domain-containing proteins PRRG4 and PRRG2.	PEX13 PRRG4	4.82e-04	25	45	2	23873930
Pubmed	Congenital Myasthenic Syndromes Overview	CHAT PLEC	5.22e-04	26	45	2	20301347
Pubmed	A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	ABHD17A PIK3CG	7.43e-04	31	45	2	32245826
Pubmed	Protein interactome reveals converging molecular pathways among autism disorders.	TCF25 ABHD17A MCM6 RPRD2 MPRIP	7.63e-04	560	45	5	21653829
Pubmed	Proteomic analysis of the NOS2 interactome in human airway epithelial cells.	PSMD6 PLEC LGALS3BP	7.68e-04	138	45	3	23438482
Pubmed	Large-scale analysis of ion channel gene expression in the mouse heart during perinatal development.	CLCNKA CLCNKB KCNH3	7.84e-04	139	45	3	16985003
Pubmed	Functional significance of isoform diversification in the protocadherin gamma gene cluster.	CHAT PCDHGA4	8.94e-04	34	45	2	22884324
Pubmed	Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	CLPP ABHD17A ABCA4 MYO7A PIK3CG LRRC23 SLC5A2	1.01e-03	1242	45	7	30973865
Pubmed	Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation.	BLM PLEC LGALS3BP	1.02e-03	152	45	3	34299191
Pubmed	Thyroid hormone receptor repression is linked to type I pneumocyte-associated respiratory distress syndrome.	MCM6 LGALS3BP	1.06e-03	37	45	2	22001906
GeneFamily	Chloride voltage-gated channels	CLCNKA CLCNKB	1.44e-04	10	33	2	302
Disease	Bartter disease type 3 (implicated_via_orthology)	CLCNKA CLCNKB	2.17e-06	2	44	2	DOID:0110144 (implicated_via_orthology)
Disease	Bartter disease type 4b (is_implicated_in)	CLCNKA CLCNKB	2.17e-06	2	44	2	DOID:0110146 (is_implicated_in)
Disease	Bartter disease type 4B	CLCNKA CLCNKB	2.17e-06	2	44	2	cv:C4310805
Disease	BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS	CLCNKA CLCNKB	2.17e-06	2	44	2	613090
Disease	Bartter disease (implicated_via_orthology)	CLCNKA CLCNKB	2.17e-06	2	44	2	DOID:445 (implicated_via_orthology)
Disease	BARTTER SYNDROME, TYPE 4B	CLCNKA CLCNKB	2.17e-06	2	44	2	C2751312
Disease	BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS	CLCNKA CLCNKB	2.17e-06	2	44	2	C4310805
Disease	Bartter syndrome	CLCNKA CLCNKB	3.25e-05	6	44	2	cv:C0004775
Disease	nephrogenic diabetes insipidus (implicated_via_orthology)	CLCNKA CLCNKB	9.71e-05	10	44	2	DOID:12387 (implicated_via_orthology)
Disease	right ventricular ejection fraction measurement	PLEC CLCNKA	9.21e-04	30	44	2	EFO_0021816
Disease	sensorineural hearing loss (is_implicated_in)	CLCNKA MYO7A	1.11e-03	33	44	2	DOID:10003 (is_implicated_in)
Disease	heart function measurement	PLEC CLCNKA	1.18e-03	34	44	2	EFO_0004311

Protein segments in the cluster

Peptide	Gene	Start	Entry
TSYDIRYRLFRLLEF	CATSPER3	71	Q86XQ3
LLTGREHLYLYARLR	ABCA4	2026	P78363
LTITDFILVLHRYYR	PRKAG3	241	Q9UGI9
DIELYSQYLERLRRF	ABHD17A	286	Q96GS6
RRFEEYLNLLYAVRL	ECT2L	711	Q008S8
FYLHKIEEILDYLRR	CA6	291	P23280
EYYRDIFTLLLRLHR	CDAN1	711	Q8IWY9
YLLTLLATAARLYRH	ADAMTS15	241	Q8TE58
RFLYHSRTRDLRDYI	KCNH3	511	Q9ULD8
NYYRLLTHRTLDREE	PCDHGA4	431	Q9Y5G9
VYSLDDIRRYLLFAR	MCM6	566	Q14566
YRVDLVLFYRHLTRR	IL18R1	351	Q13478
RRFFILYEHGLLRYA	MPRIP	71	Q6WCQ1
RDLLRYFYSRRIDIT	LGALS3BP	206	Q08380
LFRYILDYLRDRQVV	KCTD16	81	Q68DU8
RLLGHSLRYMLELYR	BMP15	61	O95972
LTDIYLLRSYIHLRY	LRRC23	81	Q53EV4
LLRLEDILRRHAFYF	NAA16	541	Q6N069
RLFVHEVLRVFYDRL	DNAH12	2121	Q6ZR08
AALHQELREYYRLLS	TUBGCP3	326	Q96CW5
FHITRTIYYLARLLE	P2RY4	261	P51582
HYRTLEYLLRHLARM	ARHGAP33	436	O14559
LDRYLAIRYPLHSRE	GALR2	121	O43603
LFYTYHDVTRLKRLI	BLM	991	P54132
FYRDLLLVHRFLPYE	B3GNT3	336	Q9Y2A9
LRRSAYPHRLNLFYL	RPRD2	66	Q5VT52
HRLDIVFYLLRIGLF	PSMD6	136	Q15008
LYLHYLGLLRRFDTV	IQCA1L	46	A6NCM1
AFALVRTIRYLYRRL	PEX13	181	Q92968
LAFYRLHRRLVPTYE	CHAT	541	P28329
RAYDIYSRLLRERIV	CLPP	71	Q16740
LYREIGDSHLLRYLS	CLCNKA	81	P51800
LYREIGDSHLLRYLS	CLCNKB	81	P51801
IRRDRFELIFSYLHF	PGBD2	216	Q6P3X8
LLLIDHRFLLRRGEY	PIK3CG	466	P48736
RRIRLYLSVLSLFLY	SLC5A2	136	P31639
VVTLLVRYRHYFRLL	TOMT	46	Q8WZ04
VRYRHYFRLLVRTVL	TOMT	51	Q8WZ04
LLYLRELLRLTHVRF	TBC1D16	576	Q8TBP0
IHRRLLYNRFDLELF	PRRG4	46	Q9BZD6
VYRLHERLVAIRTEY	PLEC	611	Q15149
TVAYLYDRLLRIRAL	GINS1	76	Q14691
VRVRLDHYQYLALLR	UHRF1BP1	826	Q6BDS2
IDHLALRARNYEYLI	TCF25	386	Q9BQ70
LLSIYLRVHRDEKLY	ZNF81	316	P51508
FLDYFRLSTIRHLYL	MXRA5	176	Q9NR99
ILRNLLIRYRDHLIY	MYO7A	81	Q13402