Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	potassium:chloride symporter activity	SLC12A6 SLC12A4	2.65e-04	9	55	2	GO:0015379
GeneOntologyMolecularFunction	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	MTMR2 MTMR1	4.03e-04	11	55	2	GO:0052629
GeneOntologyMolecularFunction	ammonium channel activity	SLC12A6 SLC12A4	4.83e-04	12	55	2	GO:0008519
GeneOntologyMolecularFunction	phosphatidylinositol-3-phosphate phosphatase activity	MTMR2 MTMR1	6.64e-04	14	55	2	GO:0004438
GeneOntologyMolecularFunction	phosphatidylinositol monophosphate phosphatase activity	MTMR2 MTMR1	7.64e-04	15	55	2	GO:0052744
GeneOntologyMolecularFunction	phosphatidylinositol-3,5-bisphosphate phosphatase activity	MTMR2 MTMR1	8.72e-04	16	55	2	GO:0106018
GeneOntologyMolecularFunction	chloride:monoatomic cation symporter activity	SLC12A6 SLC12A4	1.82e-03	23	55	2	GO:0015377
GeneOntologyMolecularFunction	scaffold protein binding	SCN5A CIT ITPR2	2.15e-03	93	55	3	GO:0097110
GeneOntologyMolecularFunction	monoatomic anion:monoatomic cation symporter activity	SLC12A6 SLC12A4	2.32e-03	26	55	2	GO:0015296
GeneOntologyMolecularFunction	nuclear localization sequence binding	BRAP KPNA3	2.50e-03	27	55	2	GO:0008139
GeneOntologyMolecularFunction	phosphatidylinositol bisphosphate phosphatase activity	MTMR2 MTMR1	2.50e-03	27	55	2	GO:0034593
GeneOntologyMolecularFunction	phosphatidylinositol phosphate phosphatase activity	MTMR2 MTMR1	3.08e-03	30	55	2	GO:0052866
GeneOntologyMolecularFunction	channel activity	SLC12A6 GJB5 SLC12A4 SCN5A PKDREJ ITPR2	3.13e-03	525	55	6	GO:0015267
GeneOntologyMolecularFunction	passive transmembrane transporter activity	SLC12A6 GJB5 SLC12A4 SCN5A PKDREJ ITPR2	3.15e-03	526	55	6	GO:0022803
GeneOntologyBiologicalProcess	ammonium import across plasma membrane	SLC12A6 SLC12A4	4.17e-05	4	55	2	GO:0140157
GeneOntologyBiologicalProcess	labyrinthine layer morphogenesis	GJB5 LLGL2 TMED2	5.61e-05	28	55	3	GO:0060713
GeneOntologyBiologicalProcess	embryonic placenta morphogenesis	GJB5 LLGL2 TMED2	9.25e-05	33	55	3	GO:0060669
GeneOntologyBiologicalProcess	regulation of phosphatidylinositol dephosphorylation	MTMR2 MTMR1	1.04e-04	6	55	2	GO:0060304
Domain	KCC1	SLC12A6 SLC12A4	8.51e-06	2	55	2	IPR000622
Domain	KCL_cotranspt	SLC12A6 SLC12A4	5.09e-05	4	55	2	IPR000076
Domain	SLC12A_fam	SLC12A6 SLC12A4	1.77e-04	7	55	2	IPR004842
Domain	SLC12_C	SLC12A6 SLC12A4	2.36e-04	8	55	2	IPR018491
Domain	SLC12	SLC12A6 SLC12A4	2.36e-04	8	55	2	PF03522
Domain	PTPc_motif	PTPRB MTMR2 MTMR1	6.99e-04	59	55	3	SM00404
Domain	Tyr_Pase_cat	PTPRB MTMR2 MTMR1	6.99e-04	59	55	3	IPR003595
Domain	Myotubularin-like_Pase_dom	MTMR2 MTMR1	7.57e-04	14	55	2	IPR010569
Domain	PPASE_MYOTUBULARIN	MTMR2 MTMR1	7.57e-04	14	55	2	PS51339
Domain	Myotubularin_fam	MTMR2 MTMR1	7.57e-04	14	55	2	IPR030564
Domain	Myotub-related	MTMR2 MTMR1	7.57e-04	14	55	2	PF06602
Domain	GRAM	MTMR2 MTMR1	9.95e-04	16	55	2	SM00568
Domain	Tyr_Pase_AS	PTPRB MTMR2 MTMR1	1.30e-03	73	55	3	IPR016130
Domain	AA-permease/SLC12A_dom	SLC12A6 SLC12A4	1.89e-03	22	55	2	IPR004841
Domain	GRAM	MTMR2 MTMR1	1.89e-03	22	55	2	PF02893
Domain	AA_permease	SLC12A6 SLC12A4	1.89e-03	22	55	2	PF00324
Domain	GRAM	MTMR2 MTMR1	1.89e-03	22	55	2	IPR004182
Domain	TYR_PHOSPHATASE_1	PTPRB MTMR2 MTMR1	2.08e-03	86	55	3	PS00383
Domain	TYR_PHOSPHATASE_2	PTPRB MTMR2 MTMR1	2.15e-03	87	55	3	PS50056
Domain	TYR_PHOSPHATASE_dom	PTPRB MTMR2 MTMR1	2.15e-03	87	55	3	IPR000387
Domain	-	PTPRB MTMR2 MTMR1	2.52e-03	92	55	3	3.90.190.10
Domain	Prot-tyrosine_phosphatase-like	PTPRB MTMR2 MTMR1	3.10e-03	99	55	3	IPR029021
Domain	Znf-RING_LisH	RC3H2 TRIM54	4.50e-03	34	55	2	IPR027370
Domain	zf-RING_UBOX	RC3H2 TRIM54	4.50e-03	34	55	2	PF13445
Domain	-	ARHGEF1 MTMR2 MTMR1 AGAP9 CIT	5.78e-03	391	55	5	2.30.29.30
Domain	PH_dom-like	ARHGEF1 MTMR2 MTMR1 AGAP9 CIT	8.23e-03	426	55	5	IPR011993
Pubmed	Phospho-regulation, nucleotide binding and ion access control in potassium-chloride cotransporters.	SLC12A6 SLC12A4	2.46e-06	2	55	2	34031912
Pubmed	Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice.	SLC12A6 SLC12A4	2.46e-06	2	55	2	17510708
Pubmed	Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia.	SLC12A6 SLC12A4	2.46e-06	2	55	2	31835175
Pubmed	Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease.	SLC12A6 SLC12A4	7.36e-06	3	55	2	31352162
Pubmed	Erythroid-specific inactivation of Slc12a6/Kcc3 by EpoR promoter-driven Cre expression reduces K-Cl cotransport activity in mouse erythrocytes.	SLC12A6 SLC12A4	7.36e-06	3	55	2	35274823
Pubmed	FIP200 is required for the cell-autonomous maintenance of fetal hematopoietic stem cells.	RB1CC1 VCL	7.36e-06	3	55	2	20716775
Pubmed	A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity.	SLC12A6 SLC12A4	7.36e-06	3	55	2	11551954
Pubmed	Insulin-like growth factor 1 stimulates KCl cotransport, which is necessary for invasion and proliferation of cervical cancer and ovarian cancer cells.	SLC12A6 SLC12A4	7.36e-06	3	55	2	15262997
Pubmed	K-Cl cotransporter gene expression during human and murine erythroid differentiation.	SLC12A6 SLC12A4	7.36e-06	3	55	2	21733850
Pubmed	Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.	MTMR2 MTMR1	1.47e-05	4	55	2	12925573
Pubmed	Functional redundancy in the myotubularin family.	MTMR2 MTMR1	1.47e-05	4	55	2	11846405
Pubmed	Influence of K-Cl cotransporter activity on activation of volume-sensitive Cl- channels in human osteoblasts.	SLC12A6 SLC12A4	1.47e-05	4	55	2	12637262
Pubmed	A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.	MTMR2 MTMR1	2.45e-05	5	55	2	8640223
Pubmed	Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators.	PTPRB SLC12A4 SCYL3 MTMR2 MTMR1 PSMC5 RB1CC1 ITPR2 KPNA3	3.65e-05	1049	55	9	27880917
Pubmed	A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.	HUS1 ITPR2	3.67e-05	6	55	2	19193627
Pubmed	A dual-activity topoisomerase complex regulates mRNA translation and turnover.	ANKRD13D LLGL2 SLC12A4 SCN5A MYOM3 SRCAP CIT BAHCC1 ITPR2	5.46e-05	1105	55	9	35748872
Pubmed	Disruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition.	SLC12A6 SLC12A4	6.83e-05	8	55	2	11395011
Pubmed	The WNK-regulated SPAK/OSR1 kinases directly phosphorylate and inhibit the K+-Cl- co-transporters.	SLC12A6 SLC12A4	6.83e-05	8	55	2	24393035
Pubmed	Similar effects of all WNK3 variants on SLC12 cotransporters.	SLC12A6 SLC12A4	6.83e-05	8	55	2	21613606
Pubmed	Cation chloride cotransporters interact with the stress-related kinases Ste20-related proline-alanine-rich kinase (SPAK) and oxidative stress response 1 (OSR1).	SLC12A6 SLC12A4	6.83e-05	8	55	2	12386165
Pubmed	KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility.	SLC12A6 NUDT21 ARHGEF1 MTMR2 MTMR1 FMNL2 CIT VCL ITPR2 KPNA3	7.27e-05	1431	55	10	37142655
Pubmed	Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly.	CIT VCL	8.78e-05	9	55	2	28199840
Pubmed	Cation-chloride cotransporters and neuronal function.	SLC12A6 SLC12A4	8.78e-05	9	55	2	19323993
Pubmed	Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.	MTMR2 MTMR1	1.10e-04	10	55	2	9736772
Pubmed	Role of FIP200 in cardiac and liver development and its regulation of TNFalpha and TSC-mTOR signaling pathways.	RB1CC1 VCL	1.34e-04	11	55	2	17015619
Pubmed	Functional kinomics establishes a critical node of volume-sensitive cation-Cl- cotransporter regulation in the mammalian brain.	SLC12A6 SLC12A4	1.60e-04	12	55	2	27782176
Pubmed	Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions.	MTMR2 MTMR1	1.60e-04	12	55	2	16787938
Pubmed	Transcription factor ETV1 is essential for rapid conduction in the heart.	SCN5A VCL	1.89e-04	13	55	2	27775552
Pubmed	FIP200 is required for maintenance and differentiation of postnatal neural stem cells.	RB1CC1 VCL	2.21e-04	14	55	2	23542691
Pubmed	Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.	RB1CC1 SRCAP	2.21e-04	14	55	2	28263302
Pubmed	The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2.	USP53 LLGL2 SLC12A4 SCYL3 MTMR1 FMNL2	2.74e-04	569	55	6	30639242
Pubmed	Linkage analyses using biochemical variants in mice. 3. Linkage relationships of eleven biochemical markers.	ZBTB16 H6PD	2.90e-04	16	55	2	5424503
Pubmed	Cloning of ARE-containing genes by AU-motif-directed display.	HUS1 TAMALIN	3.70e-04	18	55	2	9828130
Pubmed	A high-throughput approach for measuring temporal changes in the interactome.	NUDT21 ARHGEF1 GARS1 MTMR2 PSMC5 IREB2 PRPF39 VCL KPNA3	4.28e-04	1455	55	9	22863883
Pubmed	Rare independent mutations in renal salt handling genes contribute to blood pressure variation.	SLC12A6 SLC12A4	5.56e-04	22	55	2	18391953
Pubmed	Phosphodiesterase 2A2 regulates mitochondria clearance through Parkin-dependent mitophagy.	SLC12A6 SLC12A4 HS2ST1	6.43e-04	106	55	3	33087821
Pubmed	FBXL5 Inactivation in Mouse Brain Induces Aberrant Proliferation of Neural Stem Progenitor Cells.	IREB2 CAT	7.20e-04	25	55	2	28069738
Pubmed	Role of the E3 ubiquitin-ligase Hakai in intestinal inflammation and cancer bowel disease.	NUDT21 VCL	8.40e-04	27	55	2	36266428
Pubmed	Systematically defining selective autophagy receptor-specific cargo using autophagosome content profiling.	NUDT21 ARHGEF1 GARS1 PSMC5 CAT TMED2 RB1CC1 KPNA3	9.39e-04	1297	55	8	33545068
Pubmed	CHK2-BRCA1 tumor-suppressor axis restrains oncogenic Aurora-A kinase to ensure proper mitotic microtubule assembly.	GARS1 PSMC5 PRPF39 VCL KPNA3	1.10e-03	494	55	5	26831064
Pubmed	Identifying biological pathways that underlie primordial short stature using network analysis.	NUDT21 PSMC5 CAT RB1CC1 SRCAP CIT ITPR2	1.11e-03	1024	55	7	24711643
Pubmed	A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.	SLC12A6 ZBTB16 MYOM3 TRIM54 VCL	1.13e-03	497	55	5	23414517
Pubmed	Dilated Cardiomyopathy Overview	SCN5A VCL	1.18e-03	32	55	2	20301486
Pubmed	Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms.	FKBP15 ZBTB16 HS2ST1 GARS1 CIT KPNA3	1.20e-03	754	55	6	33060197
Pubmed	C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy.	SLC12A6 FKBP15 SLC12A4 SCYL3 ITPR2	1.20e-03	504	55	5	34432599
Pubmed	LKB1 deletion causes early changes in atrial channel expression and electrophysiology prior to atrial fibrillation.	SCN5A ITPR2	1.33e-03	34	55	2	26378152
Pubmed	Sensing DNA damage through ATRIP recognition of RPA-ssDNA complexes.	HUS1 ORC3	1.33e-03	34	55	2	12791985
Pubmed	Global Proximity Interactome of the Human Macroautophagy Pathway.	SCYL3 RB1CC1	1.41e-03	35	55	2	34524948
Pubmed	Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.	USP53 HS2ST1 UVSSA AGAP9 RIMS2	1.49e-03	529	55	5	14621295
Pubmed	LINC01554-Mediated Glucose Metabolism Reprogramming Suppresses Tumorigenicity in Hepatocellular Carcinoma via Downregulating PKM2 Expression and Inhibiting Akt/mTOR Signaling Pathway.	GARS1 VCL ITPR2	1.50e-03	142	55	3	30809309
Interaction	PIWIL1 interactions	PDE6B TRIM54 TP73	9.94e-06	16	54	3	int:PIWIL1
Interaction	DAPK2 interactions	LLGL2 CIT TP73	2.01e-05	20	54	3	int:DAPK2
Interaction	SELE interactions	TRIM54 MTMR1 VCL	3.10e-05	23	54	3	int:SELE
Cytoband	12q24	CIT BRAP	4.15e-04	25	55	2	12q24
Cytoband	Ensembl 112 genes in cytogenetic band chr12q24	DNAH10 TMED2 CIT BRAP	1.56e-03	415	55	4	chr12q24
GeneFamily	Myotubularins\|Phosphoinositide phosphatases	MTMR2 MTMR1	5.17e-04	15	41	2	903
Drug	Phenformin hydrochloride [834-28-6]; Down 200; 16.6uM; PC3; HT_HG-U133A	HUS1 MTMR2 MTMR1 TMED2 NPFFR1 ITPR2	7.26e-06	194	55	6	3725_DN
Drug	Fenbufen [36330-85-5]; Down 200; 15.8uM; PC3; HT_HG-U133A	MTMR1 TMED2 PRPF39 NPFFR1 BAHCC1 ITPR2	7.47e-06	195	55	6	3721_DN
Drug	Mafenide hydrochloride [138-37-4]; Up 200; 18uM; HL60; HG-U133A	HUS1 MTMR2 IREB2 TMED2 RB1CC1 BRAP	7.92e-06	197	55	6	1441_UP
Disease	Charcot-Marie-Tooth disease (implicated_via_orthology)	GARS1 MTMR2 MTMR1	9.60e-06	24	51	3	DOID:10595 (implicated_via_orthology)
Disease	myopathy (implicated_via_orthology)	MTMR2 MTMR1 PSMC5	7.96e-05	48	51	3	DOID:423 (implicated_via_orthology)
Disease	centronuclear myopathy X-linked (implicated_via_orthology)	MTMR2 MTMR1	1.05e-04	9	51	2	DOID:0111225 (implicated_via_orthology)
Disease	epilepsy (implicated_via_orthology)	SLC12A6 SLC12A4 SCN5A CIT	1.83e-04	163	51	4	DOID:1826 (implicated_via_orthology)
Disease	alpha-L-iduronidase measurement	PDE6B UVSSA	3.92e-04	17	51	2	EFO_0020139
Disease	Primary familial dilated cardiomyopathy	SCN5A VCL	1.24e-03	30	51	2	cv:C0340427
Disease	Cardiomyopathies	SCN5A CAT VCL	1.49e-03	130	51	3	C0878544
Disease	Primary dilated cardiomyopathy	SCN5A VCL	1.59e-03	34	51	2	cv:C0007193

Protein segments in the cluster

Peptide	Gene	Start	Entry
LRERRVHVTQEDFEM	PSMC5	371	P62195
HQHLGRREMTDVIIE	BRAP	61	Q7Z569
VARIRHQQHLMAAEV	BAHCC1	541	Q9P281
VTEAAHVRMLRVLHD	ARHGEF1	426	Q92888
REILHHVNQAVRDME	ARHGEF1	596	Q92888
VTVEVGEDLHMHQVR	AGAP9	196	Q5VTM2
VMEVDHDRQVVHVET	ANKRD13D	186	Q6ZTN6
MAHFDRERIPERVVH	CAT	61	P04040
MELHILEHRVRVLSV	CASTOR1	1	Q8WTX7
EMTRLHRRVSEVEAV	CIT	471	O14578
FLEIHNIHVMRESLR	MTMR1	371	Q13613
LRREHDAQIVHIAME	RC3H2	276	Q9HBD1
VHRVEEEHVILSMFK	IREB2	671	P48200
IVRHDRTMEQIVFPV	ITPR2	2151	Q14571
TVTREEHHFMVDARN	NPFFR1	181	Q9GZQ6
QVRHIQEFEKVMTDH	RB1CC1	996	Q8TDY2
VHDLRLHRVHMVQTE	PTPRB	1936	P23467
DVETMRRHRNEVTVE	KPNA3	21	O00505
EARHRRVFEMVEALQ	LLGL2	181	Q6P1M3
TVIIGEQEHRIDLHM	ATCAY	156	Q86WG3
RQHEHVIHLMDIAII	PDE6B	651	P35913
VTVARIHVNFELMVR	FKBP15	121	Q5T1M5
AELVFLDIHNIHVMR	MTMR2	346	Q13614
LHHREEQRVEMVTFV	TAMALIN	121	Q7Z6J2
EQRVEMVTFVCRVHE	TAMALIN	126	Q7Z6J2
IENMRHRIIEIHQEM	PRPF39	306	Q86UA1
VLLQLFEVHEEHVRM	SCYL3	341	Q8IZE3
FEVHEEHVRMVLLSH	SCYL3	346	Q8IZE3
EEQMRIHAEVSRARH	RIMS2	381	Q9UQ26
ELQRQRVMEAVHFRV	TP73	576	O15350
IVVHSVEDMNFRVHL	FMNL2	326	Q96PY5
MRRTVEGVLIVHEHR	NUDT21	76	O43809
VRHEDDVQHFKVMRD	GRAP2	96	O75791
RHHVERVEIIMKETV	H6PD	231	O95479
VVMHVAYREVQEKRH	GJB5	91	O95377
HIERERASDVDHMVR	DNAH10	816	Q8IVF4
HLRIEAEVEVVEMHD	SLC12A6	966	Q9UHW9
EMNEIIHARFIRAVS	ORC3	671	Q9UBD5
EELFVRSHQFRMLVV	UVSSA	66	Q2YD98
MEFTHIIIDEVHERT	TDRD9	246	Q8NDG6
HPEEMQRIHDQIVRI	PKDREJ	1666	Q9NTG1
DRNVEHMAEVHIDIR	HUS1	221	O60921
IRVREFTMAEIEHFV	GARS1	341	P41250
ARHEVREIEQRHTMD	HS2ST1	46	Q7LGA3
EEVSAMVIQRAFRRH	SCN5A	1901	Q14524
VRMVIRHHEEQRQKE	SRCAP	166	Q6ZRS2
HLRLEAEVEVVEMHN	SLC12A4	901	Q9UP95
HMNDERHKETFQVRE	USP53	976	Q70EK8
QFTVRVEHVAEMLRT	TRIM54	311	Q9BYV2
VVIMVDSQEFHAHRT	ZBTB16	36	Q05516
HEVVMEQLQRERQHE	TMEM247	131	A6NEH6
ERDFHRMHHKRIVQE	SPAG16	191	Q8N0X2
LEQREEHELVHVMER	FSBP	176	O95073
DERQQELTHQEHRVM	VCL	176	P18206
RMHNRETHVNIINVE	ZNF582	471	Q96NG8
HEQEYMEVRERIHRA	TMED2	146	Q15363
EPQHEMVAHRHRQEV	ZSCAN9	136	O15535
PQAMEVHRLEHRQEE	MYOM3	16	Q5VTT5