KCNQ2_HUMAN - dbPTM
KCNQ2_HUMAN - PTM Information in dbPTM
Basic Information of Protein
UniProt ID KCNQ2_HUMAN
UniProt AC O43526
Protein Name Potassium voltage-gated channel subfamily KQT member 2 {ECO:0000305}
Gene Name KCNQ2 {ECO:0000312|HGNC:HGNC:6296}
Organism Homo sapiens (Human).
Sequence Length 872
Subcellular Localization Cell membrane
Multi-pass membrane protein .
Protein Description Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine. [PubMed: 9836639]
Protein Sequence MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSPCRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK
Overview of Protein Modification Sites with Functional and Structural Information
Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations Modification Substrate Peptides
&
Secondary Structure		 ASA (%) Reference Orthologous
Protein Cluster
21UbiquitinationPSGEKKLKVGFVGLD
CCCCCEEEEEEEECC		49.55-
45PhosphorylationGALLIAGSEAPKRGS
CCEEEECCCCCCCCC		22.8922210691
49UbiquitinationIAGSEAPKRGSILSK
EECCCCCCCCCCCCC		76.16-
52PhosphorylationSEAPKRGSILSKPRA
CCCCCCCCCCCCCCC		25.1230576142
55PhosphorylationPKRGSILSKPRAGGA
CCCCCCCCCCCCCCC		38.6630576142
74PhosphorylationPPKRNAFYRKLQNFL
CCCCCHHHHHHHHHH		12.3918083107
199PhosphorylationFATSALRSLRFLQIL
HHHHHHHHHHHHHHH		25.4226670566
217PhosphorylationRMDRRGGTWKLLGSV
HCCCCCCHHHHCEEH		23.4216319223
229PhosphorylationGSVVYAHSKELVTAW
EEHHHHCCHHHHHHH		21.47-
234PhosphorylationAHSKELVTAWYIGFL
HCCHHHHHHHHHHHH		24.8924043423
237PhosphorylationKELVTAWYIGFLCLI
HHHHHHHHHHHHHHH		6.6824043423
247PhosphorylationFLCLILASFLVYLAE
HHHHHHHHHHHHHHH		18.7024043423
251PhosphorylationILASFLVYLAEKGEN
HHHHHHHHHHHCCCC		11.4424043423
368PhosphorylationQYYERTVTVPMYSSQ
HEEEEEEEECCCCCC		20.4822210691
372 (in isoform 6)Phosphorylation-10.0925884760
372 (in isoform 3)Phosphorylation-10.0925884760
372PhosphorylationRTVTVPMYSSQTQTY
EEEEECCCCCCCCCC		10.0918083107
379PhosphorylationYSSQTQTYGASRLIP
CCCCCCCCCHHHCCC		10.81-
398AcetylationLELLRNLKSKSGLAF
HHHHHHCHHHCCCCC		60.437483877
414 (in isoform 4)Phosphorylation-39.89-
438PhosphorylationGRSSQKVSLKDRVFS
CCCCCCCCHHHCCCC		36.42-
445PhosphorylationSLKDRVFSSPRGVAA
CHHHCCCCCCCCHHC		36.25-
457PhosphorylationVAAKGKGSPQAQTVR
HHCCCCCCCCHHCCC		19.82-
466PhosphorylationQAQTVRRSPSADQSL
CHHCCCCCCCCCCCC		16.7927732954
468PhosphorylationQTVRRSPSADQSLED
HCCCCCCCCCCCCCC		45.8027732954
472PhosphorylationRSPSADQSLEDSPSK
CCCCCCCCCCCCCCC		33.9825332170
476PhosphorylationADQSLEDSPSKVPKS
CCCCCCCCCCCCCCC		23.0025307156
477 (in isoform 4)Phosphorylation-50.95-
478PhosphorylationQSLEDSPSKVPKSWS
CCCCCCCCCCCCCCC		50.68-
485PhosphorylationSKVPKSWSFGDRSRA
CCCCCCCCCCCHHHH		26.83-
503PhosphorylationFRIKGAASRQNSEEA
HHHCCHHHCCCCCCC		33.5930177828
507PhosphorylationGAASRQNSEEASLPG
CHHHCCCCCCCCCCC		28.6025884760
539PhosphorylationLTPGLKVSIRAVCVM
CCCCCCHHHHHHHHH		12.55-
551PhosphorylationCVMRFLVSKRKFKES
HHHHHHHCCHHHHHH		28.9612754513
556MethylationLVSKRKFKESLRPYD
HHCCHHHHHHCCCCC		49.80115972283
558PhosphorylationSKRKFKESLRPYDVM
CCHHHHHHCCCCCHH		30.2112754513
562PhosphorylationFKESLRPYDVMDVIE
HHHHCCCCCHHHHHH		18.09-
571PhosphorylationVMDVIEQYSAGHLDM
HHHHHHHHHHHHHHH		6.41-
644PhosphorylationLDFLVNIYMQRMGIP
HHHHHHHHHHHCCCC		5.08-
658PhosphorylationPPTETEAYFGAKEPE
CCCCCCCCCCCCCCC		9.05-
670PhosphorylationEPEPAPPYHSPEDSR
CCCCCCCCCCCHHHH		17.5525307156
672PhosphorylationEPAPPYHSPEDSREH
CCCCCCCCCHHHHHH		24.9225332170
731PhosphorylationPRQGHGTSPVGDHGS
CCCCCCCCCCCCCCC		23.37-
755PhosphorylationHERSLSAYGGGNRAS
CCCCCCCCCCCCCHH		16.9625884760
762PhosphorylationYGGGNRASMEFLRQE
CCCCCCHHHHHHHCC		18.6623312004
801PhosphorylationDHEELERSFSGFSIS
CHHHHHHHHCCCCCC		17.87-
803PhosphorylationEELERSFSGFSISQS
HHHHHHHCCCCCCCC		39.93-
810PhosphorylationSGFSISQSKENLDAL
CCCCCCCCHHHHHHH		34.84-
821PhosphorylationLDALNSCYAAVAPCA
HHHHHHHHHHHHHHC		9.4525884760
843PhosphorylationEGESDTDSDLCTPCG
CCCCCCCCCCCCCCC		34.28-
855PhosphorylationPCGPPPRSATGEGPF
CCCCCCCCCCCCCCC		35.64-
857PhosphorylationGPPPRSATGEGPFGD
CCCCCCCCCCCCCCC		36.69-
Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)
Modified Location Modified Residue Modification Type of Upstream Proteins Gene Name of Upstream Proteins UniProt AC of Upstream Proteins Sources
52SPhosphorylationKinasePKA-FAMILY-GPS
52SPhosphorylationKinasePKA-Uniprot
427SPhosphorylationKinaseCDK5Q00535
PSP
427SPhosphorylationKinaseMAPK14Q16539
GPS
436SPhosphorylationKinaseMAPK14Q16539
GPS
438SPhosphorylationKinasePRKACAP17612
GPS
438SPhosphorylationKinaseCAMK2AQ9UQM7
PSP
446SPhosphorylationKinaseCDK5Q00535
PSP
455SPhosphorylationKinasePRKACAP17612
GPS
Functions of PTM Sites
Modified Location Modified Residue Modification Function Reference
52SPhosphorylation

9872318
Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Modified Location Modification Variant Position
(Distance <= 10) 		Residue Change SAP Related Disease Reference

Oops, there are no SNP-PTM records of KCNQ2_HUMAN !!
Protein-Protein Interaction
Interacting Protein Gene Name Interaction Type PPI Reference Domain-Domain Interactions
GOLM1_HUMANGOLM1physical
26186194
GOLM1_HUMANGOLM1physical
28514442
Drug and Disease Associations
Kegg Disease
H00606 Early infantile epileptic encephalopathy; Ohtahara syndrome
H00806 Benign familial neonatal and infantile epilepsies, including: Benign familial neonatal epilepsy (BFN
OMIM Disease
121200Seizures, benign familial neonatal 1 (BFNS1)
613720Epileptic encephalopathy, early infantile, 7 (EIEE7)
Kegg Drug
D04741 Linopirdine (USAN/INN)
D09569 Ezogabine (USAN); Retigabine (INN); Potiga (TN)
DrugBank
DB00321Amitriptyline
DB00586Diclofenac
DB04953Ezogabine
DB00939Meclofenamic acid
Regulatory Network of KCNQ2_HUMAN

loading...

Related Literatures of Post-Translational Modification
Phosphorylation
ReferencePubMed
"Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+channels causes epilepsy.";
Schroeder B.C., Kubisch C., Stein V., Jentsch T.J.;
Nature 396:687-690(1998).
Cited for: MUTAGENESIS OF SER-52 AND GLY-279, PHOSPHORYLATION AT SER-52, ANDCHARACTERIZATION OF VARIANTS CYS-284 AND THR-306.

TOP
© 2024 Institute of Bioinformatics and Systems Biology, NYCU | Designed by : BiOmics Laboratory