P35240

※ Protein Information

Tag	Content
UniProt Accession	MERL_HUMAN; P35240;
Entrez ID	4771
GenBank Protein ID	NM_000268.3; NM_016418.5; NM_181825.2; NM_181828.2; NM_181829.2; NM_181830.2; NM_181831.2; NM_181832.2; NM_181833.2;
GenBank Nucleotide ID	NP_000259.1; NP_057502.2; NP_861546.1; NP_861966.1; NP_861967.1; NP_861968.1; NP_861969.1; NP_861970.1; NP_861971.1;
Protein Name	Merlin (Moesin-ezrin-radixin-like protein) (Neurofibromin-2) (Schwannomerlin) (Schwannomin)
Gene Name	NF2; SCH
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. Functional Description Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.
Sequence (Fasta)	MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV CRTLGLRETW 60 FFGLQYTIKD TVAWLKMDKK VLDHDVSKEE PVTFHFLAKF YPENAEEELV QEITQHLFFL 120 QVKKQILDEK IYCPPEASVL LASYAVQAKY GDYDPSVHKR GFLAQEELLP KRVINLYQMT 180 PEMWEERITA WYAEHRGRAR DEAEMEYLKI AQDLEMYGVN YFAIRNKKGT ELLLGVDALG 240 LHIYDPENRL TPKISFPWNE IRNISYSDKE FTIKPLDKKI DVFKFNSSKL RVNKLILQLC 300 IGNHDLFMRR RKADSLEVQQ MKAQAREEKA RKQMERQRLA REKQMREEAE RTRDELERRL 360 LQMKEEATMA NEALMRSEET ADLLAEKAQI TEEEAKLLAQ KAAEAEQEMQ RIKATAIRTE 420 EEKRLMEQKV LEAEVLALKM AEESERRAKE ADQLKQDLQE AREAERRAKQ KLLEIATKPT 480 YPPMNPIPAP LPPDIPSFNL IGDSLSFDFK DTDMKRLSME IEKEKVEYME KSKHLQEQLN 540 ELKTEIEALK LKERETALDI LHNENSDRGG SSKHNTIKKL TLQSAKSRVA FFEEL 596 Fasta Sequence >P35240\|NF2; SCH\|Homo sapiens (Human) MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKKVLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALGLHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKLTLQSAKSRVAFFEEL

※ PTM-Disease Association

Num	PTM	Disease	Type	PTM Site	PMID
1	Phosphorylation	Colon cancer/carcinoma	A		24323642
1	[Reference]: in normal tissues the phosphorylated form of Merlin was found to be the predominant one, while in the tumor tissues the unphosphorylated form was found to be more pronounced
2	Serine Phosphorylation	Mesothelioma	U	S518	18835652
2	[Reference]: In patient samples, merlin was truncated or phosphorylated on S518

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	meningioma, acoustic neuroma, renal meningioma, acoustic neuroma neurofibromatosis type 2
CTD (Curated) (count: 8) (view all)	MESH:D002292 ; Carcinoma, Renal Cell MESH:D008579 ; Meningioma MESH:C537443 ; Meningioma, familial MESH:D008654 ; Mesothelioma MESH:C562839 ; Mesothelioma, Malignant MESH:D016518 ; Neurofibromatosis 2 MESH:D010997 ; Pleural Neoplasms MESH:C536641 ; Schwannomatosis
HGMD (count: 351) (view all)	CP045525; Neurofibromatosis 2; Complex rearrangements CP045526; Neurofibromatosis 2; Complex rearrangements CP005301; Neurofibromatosis 2; Complex rearrangements CD077834; Neurofibromatosis 2; Small deletions CD066383; Neurofibromatosis 2; Small deletions CD004510; Neurofibromatosis 2; Small deletions CD984140; Neurofibromatosis 2; Small deletions CD002911; Neurofibromatosis 2; Small deletions CD962107; Neurofibromatosis 2; Small deletions CD077826; Neurofibromatosis 2; Small deletions CD982831; Neurofibromatosis 2; Small deletions CD951804; Neurofibromatosis 2; Small deletions HD971257; Neurofibromatosis 2; Small deletions CD045499; Neurofibromatosis 2; Small deletions CD077816; Neurofibromatosis 2; Small deletions CD962101; Neurofibromatosis 2; Small deletions CD045500; Neurofibromatosis 2; Small deletions CD941742; Neurofibromatosis 2; Small deletions CD962105; Neurofibromatosis 2; Small deletions CD962112; Neurofibromatosis 2; Small deletions CD941744; Neurofibromatosis 2; Small deletions CD951802; Neurofibromatosis 2; Small deletions CD077804; Neurofibromatosis 2; Small deletions CD077814; Neurofibromatosis 2; Small deletions CD005419; Neurofibromatosis 2; Small deletions CD070484; Neurofibromatosis 2; Small deletions CD951805; Neurofibromatosis 2; Small deletions CD070485; Neurofibromatosis 2; Small deletions CD951806; Neurofibromatosis 2; Small deletions CD962099; Neurofibromatosis 2; Small deletions CD962109; Neurofibromatosis 2; Small deletions CD022565; Neurofibromatosis 2; Small deletions CD984139; Neurofibromatosis 2; Small deletions CD962100; Neurofibromatosis 2; Small deletions CD070486; Neurofibromatosis 2; Small deletions CD962102; Neurofibromatosis 2; Small deletions CD070487; Neurofibromatosis 2; Small deletions CD962108; Neurofibromatosis 2; Small deletions CD045501; Neurofibromatosis 2; Small deletions CD951803; Neurofibromatosis 2; Small deletions CD070488; Neurofibromatosis 2; Small deletions CD931034; Neurofibromatosis 2; Small deletions CD077833; Neurofibromatosis 2; Small deletions CD962104; Neurofibromatosis 2; Small deletions CD077800; Neurofibromatosis 2; Small deletions CD070489; Neurofibromatosis 2; Small deletions CD077807; Neurofibromatosis 2; Small deletions CD045502; Neurofibromatosis 2; Small deletions CD050149; Neurofibromatosis 2; Small deletions CD994616; Neurofibromatosis 2; Small deletions CD951807; Neurofibromatosis 2; Small deletions CD077802; Neurofibromatosis 2; Small deletions CD070490; Neurofibromatosis 2; Small deletions CD951808; Neurofibromatosis 2; Small deletions CD951809; Neurofibromatosis 2; Small deletions CD951801; Neurofibromatosis 2; Small deletions CD045503; Neurofibromatosis 2; Small deletions CD045504; Neurofibromatosis 2; Small deletions CD941736; Neurofibromatosis 2; Small deletions CD931032; Neurofibromatosis 2; Small deletions CD022564; Neurofibromatosis 2; Small deletions CD070491; Neurofibromatosis 2; Small deletions CD962110; Neurofibromatosis 2; Small deletions CD077801; Neurofibromatosis 2; Small deletions CD982832; Neurofibromatosis 2; Small deletions CD002912; Neurofibromatosis 2; Small deletions CD001529; Neurofibromatosis 2; Small deletions CD077837; Neurofibromatosis 2; Small deletions CD982834; Neurofibromatosis 2; Small deletions CD004509; Neurofibromatosis 2; Small deletions CD982828; Neurofibromatosis 2; Small deletions CD962111; Neurofibromatosis 2; Small deletions CD077799; Neurofibromatosis 2; Small deletions CD962103; Neurofibromatosis 2; Small deletions CD984138; Neurofibromatosis 2; Small deletions CD941741; Neurofibromatosis 2; Small deletions CD077827; Neurofibromatosis 2; Small deletions CD984655; Neurofibromatosis 2; Small deletions CD931033; Neurofibromatosis 2; Small deletions CD077805; Neurofibromatosis 2; Small deletions CD035757; Neurofibromatosis 2; Small deletions CD982830; Neurofibromatosis 2; Small deletions CD982833; Neurofibromatosis 2; Small deletions CD931031; Neurofibromatosis 2; Small deletions CD984656; Neurofibromatosis 2; Small deletions CD070492; Neurofibromatosis 2; Small deletions CD045505; Neurofibromatosis 2; Small deletions CD077806; Neurofibromatosis 2; Small deletions CD045506; Neurofibromatosis 2; Small deletions CD941738; Neurofibromatosis 2; Small deletions CD982835; Neurofibromatosis 2; Small deletions CD941740; Neurofibromatosis 2; Small deletions CD004511; Neurofibromatosis 2; Small deletions CD070493; Neurofibromatosis 2; Small deletions CD077808; Neurofibromatosis 2; Small deletions CD962106; Neurofibromatosis 2; Small deletions CD045507; Neurofibromatosis 2; Small deletions CD941737; Neurofibromatosis 2; Small deletions CD070494; Neurofibromatosis 2; Small deletions CG984407; Neurofibromatosis 2; Gross deletions CG984406; Neurofibromatosis 2; Gross deletions CG015617; Neurofibromatosis 2; Gross deletions CG005099; Neurofibromatosis 2; Gross deletions CG952351; Neurofibromatosis 2; Gross deletions CG015618; Neurofibromatosis 2; Gross deletions CG962919; Neurofibromatosis 2; Gross deletions CG005100; Neurofibromatosis 2; Gross deletions CG942230; Neurofibromatosis 2; Gross deletions CG962920; Neurofibromatosis 2; Gross deletions CG005101; Neurofibromatosis 2; Gross deletions CG984408; Neurofibromatosis 2; Gross deletions CG015619; Neurofibromatosis 2; Gross deletions CG984409; Neurofibromatosis 2; Gross deletions CG984410; Neurofibromatosis 2; Gross deletions CG055876; Neurofibromatosis 2; Gross deletions CG055877; Neurofibromatosis 2; Gross deletions CG015620; Neurofibromatosis 2; Gross deletions CG015621; Neurofibromatosis 2; Gross deletions CG984411; Neurofibromatosis 2; Gross deletions CG984412; Neurofibromatosis 2; Gross deletions CG931323; Neurofibromatosis 2; Gross deletions CG994975; Neurofibromatosis 2; Gross deletions CG078008; Neurofibromatosis 2; Gross deletions CG035280; Neurofibromatosis 2; Gross deletions CG005102; Neurofibromatosis 2; Gross deletions CG078009; Neurofibromatosis 2; Gross deletions CG055878; Neurofibromatosis 2; Gross deletions CG078010; Neurofibromatosis 2; Gross deletions CG055879; Neurofibromatosis 2; Gross deletions CG055880; Neurofibromatosis 2; Gross deletions CG078011; Neurofibromatosis 2; Gross deletions CG055881; Neurofibromatosis 2; Gross deletions CG078012; Neurofibromatosis 2; Gross deletions CG078013; Neurofibromatosis 2; Gross deletions CG055882; Neurofibromatosis 2; Gross deletions CG056499; Neurofibromatosis 2; Gross deletions CG055883; Neurofibromatosis 2; Gross deletions CG055884; Neurofibromatosis 2; Gross deletions CG055885; Neurofibromatosis 2; Gross deletions CG984413; Neurofibromatosis 2; Gross deletions CG055886; Neurofibromatosis 2; Gross deletions CG015622; Neurofibromatosis 2; Gross deletions CG015623; Neurofibromatosis 2; Gross deletions CN005422; Neurofibromatosis 2; Gross insertions CN005226; Neurofibromatosis 2; Gross insertions CN005227; Neurofibromatosis 2; Gross insertions CN055798; Neurofibromatosis 2; Gross insertions CN056501; Neurofibromatosis 2; Gross insertions CN962975; Neurofibromatosis 2; Gross insertions CX045514; Neurofibromatosis 2; Small indels CX045515; Neurofibromatosis 2; Small indels CX070571; Neurofibromatosis 2; Small indels CX045516; Neurofibromatosis 2; Small indels CX952012; Neurofibromatosis 2; Small indels CX962384; Neurofibromatosis 2; Small indels CI941897; Neurofibromatosis 2; Small insertions CI035759; Neurofibromatosis 2; Small insertions CI050160; Neurofibromatosis 2; Small insertions CI962778; Neurofibromatosis 2; Small insertions CI077825; Neurofibromatosis 2; Small insertions CI962322; Neurofibromatosis 2; Small insertions CI962323; Neurofibromatosis 2; Small insertions CI984142; Neurofibromatosis 2; Small insertions CI941896; Neurofibromatosis 2; Small insertions CI004514; Neurofibromatosis 2; Small insertions CI983170; Neurofibromatosis 2; Small insertions CI962321; Neurofibromatosis 2; Small insertions CI084934; Neurofibromatosis 2; Small insertions CI084935; Neurofibromatosis 2; Small insertions CI084933; Neurofibromatosis 2; Small insertions CI931387; Neurofibromatosis 2; Small insertions CI045510; Neurofibromatosis 2; Small insertions CI962319; Neurofibromatosis 2; Small insertions CI983171; Neurofibromatosis 2; Small insertions CI942132; Neurofibromatosis 2; Small insertions CI077803; Neurofibromatosis 2; Small insertions CI952426; Neurofibromatosis 2; Small insertions CI962320; Neurofibromatosis 2; Small insertions CI962318; Neurofibromatosis 2; Small insertions CI005420; Neurofibromatosis 2; Small insertions CI070555; Neurofibromatosis 2; Small insertions CI983522; Neurofibromatosis 2; Small insertions CI070556; Neurofibromatosis 2; Small insertions CI045511; Neurofibromatosis 2; Small insertions CI045512; Neurofibromatosis 2; Small insertions CM961029; Neurofibromatosis 2; Missense/nonsense CM984636; Neurofibromatosis 2; Missense/nonsense CM984125; Neurofibromatosis 2; Missense/nonsense CM045419; Neurofibromatosis 2; Missense/nonsense CM070210; Neurofibromatosis 2; Missense/nonsense CM994606; Neurofibromatosis 2; Missense/nonsense CM981383; Neurofibromatosis 2; Missense/nonsense CM930513; Neurofibromatosis 2; Missense/nonsense CM941097; Neurofibromatosis 2; Missense/nonsense CM941098; Neurofibromatosis 2; Missense/nonsense CM994623; Neurofibromatosis 2; Missense/nonsense CM023965; Neurofibromatosis 2; Missense/nonsense CM002815; Neurofibromatosis 2; Missense/nonsense CM981384; Neurofibromatosis 2; Missense/nonsense CM045423; Neurofibromatosis 2; Missense/nonsense CM994607; Neurofibromatosis 2; Missense/nonsense CM941099; Neurofibromatosis 2; Missense/nonsense CM950854; Neurofibromatosis 2; Missense/nonsense CM045420; Neurofibromatosis 2; Missense/nonsense CM045418; Neurofibromatosis 2; Missense/nonsense CM994624; Neurofibromatosis 2; Missense/nonsense CM045424; Neurofibromatosis 2; Missense/nonsense CM077954; Neurofibromatosis 2; Missense/nonsense CM001735; Neurofibromatosis 2; Missense/nonsense CM045464; Neurofibromatosis 2; Missense/nonsense CM077951; Neurofibromatosis 2; Missense/nonsense CM961030; Neurofibromatosis 2; Missense/nonsense CM941100; Neurofibromatosis 2; Missense/nonsense CM961031; Neurofibromatosis 2; Missense/nonsense CM070211; Neurofibromatosis 2; Missense/nonsense CM961032; Neurofibromatosis 2; Missense/nonsense CM994608; Neurofibromatosis 2; Missense/nonsense CM950855; Neurofibromatosis 2; Missense/nonsense CM961033; Neurofibromatosis 2; Missense/nonsense CM950856; Neurofibromatosis 2; Missense/nonsense CM050078; Neurofibromatosis 2; Missense/nonsense CM930514; Neurofibromatosis 2; Missense/nonsense CM002816; Neurofibromatosis 2; Missense/nonsense CM990932; Neurofibromatosis 2; Missense/nonsense CM045425; Neurofibromatosis 2; Missense/nonsense CM961034; Neurofibromatosis 2; Missense/nonsense CM930515; Neurofibromatosis 2; Missense/nonsense CM004485; Neurofibromatosis 2; Missense/nonsense CM070212; Neurofibromatosis 2; Missense/nonsense CM994625; Neurofibromatosis 2; Missense/nonsense CM981385; Neurofibromatosis 2; Missense/nonsense CM941102; Neurofibromatosis 2; Missense/nonsense CM070209; Neurofibromatosis 2; Missense/nonsense CM002817; Neurofibromatosis 2; Missense/nonsense CM930516; Neurofibromatosis 2; Missense/nonsense CM961035; Neurofibromatosis 2; Missense/nonsense CM941103; Neurofibromatosis 2; Missense/nonsense CM004486; Neurofibromatosis 2; Missense/nonsense CM930517; Neurofibromatosis 2; Missense/nonsense CM066148; Neurofibromatosis 2; Missense/nonsense CM077950; Neurofibromatosis 2; Missense/nonsense CM001736; Neurofibromatosis 2; Missense/nonsense CM077952; Neurofibromatosis 2; Missense/nonsense CM961036; Neurofibromatosis 2; Missense/nonsense CM077953; Neurofibromatosis 2; Missense/nonsense CM004487; Neurofibromatosis 2; Missense/nonsense CM941104; Neurofibromatosis 2; Missense/nonsense CM045422; Neurofibromatosis 2; Missense/nonsense CM950857; Neurofibromatosis 2; Missense/nonsense CM942127; Neurofibromatosis 2; Missense/nonsense CM002818; Neurofibromatosis 2; Missense/nonsense CM961037; Neurofibromatosis 2; Missense/nonsense CM981386; Neurofibromatosis 2; Missense/nonsense CM961038; Neurofibromatosis 2; Missense/nonsense CM066149; Neurofibromatosis 2; Missense/nonsense CM941105; Neurofibromatosis 2; Missense/nonsense CM035747; Neurofibromatosis 2; Missense/nonsense CM941106; Neurofibromatosis 2; Missense/nonsense CM950858; Neurofibromatosis 2; Missense/nonsense HM971311; Neurofibromatosis 2; Missense/nonsense CM045421; Neurofibromatosis 2; Missense/nonsense CM070208; Neurofibromatosis 2; Missense/nonsense CM994626; Neurofibromatosis 2; Missense/nonsense CM941107; Neurofibromatosis 2; Missense/nonsense CM001737; Neurofibromatosis 2; Missense/nonsense CM950859; Neurofibromatosis 2; Missense/nonsense CM961039; Neurofibromatosis 2; Missense/nonsense CM961040; Neurofibromatosis 2; Missense/nonsense CM950860; Neurofibromatosis 2; Missense/nonsense CM961041; Neurofibromatosis 2; Missense/nonsense CM025901; Neurofibromatosis 2; Missense/nonsense CM001738; Neurofibromatosis 2; Missense/nonsense CS045477; Neurofibromatosis 2; Splicing CS951482; Neurofibromatosis 2; Splicing CS951483; Neurofibromatosis 2; Splicing CS002891; Neurofibromatosis 2; Splicing CS962772; Neurofibromatosis 2; Splicing CS077989; Neurofibromatosis 2; Splicing CS941521; Neurofibromatosis 2; Splicing CS951489; Neurofibromatosis 2; Splicing CS941522; Neurofibromatosis 2; Splicing CS961641; Neurofibromatosis 2; Splicing CS962773; Neurofibromatosis 2; Splicing CS951490; Neurofibromatosis 2; Splicing CS070388; Neurofibromatosis 2; Splicing CS077990; Neurofibromatosis 2; Splicing CS045478; Neurofibromatosis 2; Splicing CS961642; Neurofibromatosis 2; Splicing CS961643; Neurofibromatosis 2; Splicing HS040015; Neurofibromatosis 2; Splicing HS971357; Neurofibromatosis 2; Splicing CS951491; Neurofibromatosis 2; Splicing CS070389; Neurofibromatosis 2; Splicing CS982293; Neurofibromatosis 2; Splicing CS961644; Neurofibromatosis 2; Splicing CS982294; Neurofibromatosis 2; Splicing CS982295; Neurofibromatosis 2; Splicing CS077991; Neurofibromatosis 2; Splicing CS045479; Neurofibromatosis 2; Splicing CS961645; Neurofibromatosis 2; Splicing CS961646; Neurofibromatosis 2; Splicing CS077992; Neurofibromatosis 2; Splicing CS045480; Neurofibromatosis 2; Splicing CS961647; Neurofibromatosis 2; Splicing CS070390; Neurofibromatosis 2; Splicing CS941523; Neurofibromatosis 2; Splicing CS961648; Neurofibromatosis 2; Splicing CS070391; Neurofibromatosis 2; Splicing CS045481; Neurofibromatosis 2; Splicing CS050109; Neurofibromatosis 2; Splicing CS077993; Neurofibromatosis 2; Splicing CS045482; Neurofibromatosis 2; Splicing CS982284; Neurofibromatosis 2; Splicing CS941518; Neurofibromatosis 2; Splicing CS930848; Neurofibromatosis 2; Splicing CS070392; Neurofibromatosis 2; Splicing CS982285; Neurofibromatosis 2; Splicing CS961636; Neurofibromatosis 2; Splicing CS941519; Neurofibromatosis 2; Splicing CS941520; Neurofibromatosis 2; Splicing CS982287; Neurofibromatosis 2; Splicing CS951484; Neurofibromatosis 2; Splicing CS005418; Neurofibromatosis 2; Splicing CS045483; Neurofibromatosis 2; Splicing CS004503; Neurofibromatosis 2; Splicing CS070393; Neurofibromatosis 2; Splicing CS045484; Neurofibromatosis 2; Splicing CS070394; Neurofibromatosis 2; Splicing CS961637; Neurofibromatosis 2; Splicing CS961638; Neurofibromatosis 2; Splicing CS951485; Neurofibromatosis 2; Splicing CS982288; Neurofibromatosis 2; Splicing CS045485; Neurofibromatosis 2; Splicing CS951486; Neurofibromatosis 2; Splicing CS982289; Neurofibromatosis 2; Splicing CS942129; Neurofibromatosis 2?; Splicing CS951487; Neurofibromatosis 2; Splicing CS077994; Neurofibromatosis 2; Splicing CS077660; Neurofibromatosis 2; Splicing CS961639; Neurofibromatosis 2; Splicing CS982290; Neurofibromatosis 2; Splicing CS045486; Neurofibromatosis 2; Splicing CS045487; Neurofibromatosis 2; Splicing CS045488; Neurofibromatosis 2; Splicing CS982291; Neurofibromatosis 2; Splicing CS951488; Neurofibromatosis 2; Splicing CS982292; Neurofibromatosis 2; Splicing CS961640; Neurofibromatosis 2; Splicing CS070395; Neurofibromatosis 2; Splicing CS077995; Neurofibromatosis 2; Splicing CS001841; Neurofibromatosis 2; Splicing
GWASdb (count: 8) (view all)	rs6006220; Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption); hypertension rs2857641; Blood pressure (response to angiotensin-converting enzyme inhibitor); hypertension rs2527335; Amyotrophic lateral sclerosis (sporadic); amyotrophic lateral sclerosis rs2857648; Urinary metabolites; kidney disease rs16987928; Urinary metabolites; kidney disease rs2530678; Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption); hypertension rs2530678; Cognitive impairment induced by topiramate; cognitive disorder rs2267151; Urinary metabolites; kidney disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 15) (view all)	10 GAIASRMSFSSLKRK dbPAF 12 IASRMSFSSLKRKQP dbPAF 13 ASRMSFSSLKRKQPK dbPAF 177 PKRVINLYQMTPEMW dbPAF 180 VINLYQMTPEMWEER dbPAF 189 EMWEERITAWYAEHR dbPAF 230 AIRNKKGTELLLGVD dbPAF 315 MRRRKADSLEVQQMK dbPAF 415 EMQRIKATAIRTEEE dbPAF 419 IKATAIRTEEEKRLM dbPAF 477 QKLLEIATKPTYPPM dbPAF 518 DTDMKRLSMEIEKEK dbPAF 581 HNTIKKLTLQSAKSR dbPAF 587 LTLQSAKSRVAFFEE dbPAF 87 KVLDHDVSKEEPVTF dbPAF
Acetylation (count: 1)	279 TIKPLDKKIDVFKFN PLMD
Ubiquitination (count: 15) (view all)	159 DYDPSVHKRGFLAQE PLMD 171 AQEELLPKRVINLYQ PLMD 253 PENRLTPKISFPWNE PLMD 269 RNISYSDKEFTIKPL PLMD 322 SLEVQQMKAQAREEK PLMD 364 ERRLLQMKEEATMAN PLMD 387 TADLLAEKAQITEEE PLMD 396 QITEEEAKLLAQKAA PLMD 401 EAKLLAQKAAEAEQE PLMD 449 EESERRAKEADQLKQ PLMD 455 AKEADQLKQDLQEAR PLMD 533 VEYMEKSKHLQEQLN PLMD 573 SDRGGSSKHNTIKKL PLMD 579 SKHNTIKKLTLQSAK PLMD 586 KLTLQSAKSRVAFFE PLMD
Sumoylation (count: 2)	550 KTEIEALKLKERETA PLMD 76 KDTVAWLKMDKKVLD PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

E9PHW3	P35240	IntAct
O00560	P35240	HPRD
O14745	P35240	HPRD; IntAct
O14964	P35240	HPRD
O14980	P35240	HPRD
P04626	P35240	HPRD
P05556	P35240	HPRD
P15311	P35240	HPRD
P16070	P35240	HPRD
P35222	P35240	HPRD
P35240	P35240	HPRD
P35240	P49023	HPRD
P35240	Q01082	HPRD
P35240	Q12967	HPRD
P35240	Q13153	IntAct;HPRD
P35240	Q15633	HPRD
P35240	Q16584	IntAct
P35240	Q4VCS5	IntAct
P35240	Q68EM7	IntAct
P35240	Q8IY63	IntAct
P35240	Q8N3R9	IntAct
P35240	Q8NI35	IntAct
P35240	Q92574	HPRD
P35240	Q96HU1	HPRD
P35240	Q9BZE4	IntAct
P35240	Q9H204	IntAct
P35240	Q9P0W5	HPRD; IntAct;IntAct
P35240	Q9Y4B6	HPRD

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction