PKHH2_MOUSE
ID PKHH2_MOUSE Reviewed; 1491 AA.
AC Q8C115; B2RQ85; Q059P2; Q69Z29; Q8VDL8;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 3.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Pleckstrin homology domain-containing family H member 2;
GN Name=Plekhh2; Synonyms=Kiaa2028;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Head;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC STRAIN=FVB/N; TISSUE=Brain, and Mammary tumor;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 90-1491 (ISOFORM 3).
RC TISSUE=Pancreatic islet;
RX PubMed=15368895; DOI=10.1093/dnares/11.3.205;
RA Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S.,
RA Saga Y., Seino S., Nishimura M., Kaisho T., Hoshino K., Kitamura H.,
RA Nagase T., Ohara O., Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene: IV.
RT The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs
RT identified by screening of terminal sequences of cDNA clones randomly
RT sampled from size-fractionated libraries.";
RL DNA Res. 11:205-218(2004).
RN [5]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=17251388; DOI=10.1681/asn.2006060675;
RA Patrakka J., Xiao Z., Nukui M., Takemoto M., He L., Oddsson A., Perisic L.,
RA Kaukinen A., Szigyarto C.A.-K., Uhlen M., Jalanko H., Betsholtz C.,
RA Tryggvason K.;
RT "Expression and subcellular distribution of novel glomerulus-associated
RT proteins Dendrin, Ehd3, Sh2d4a, Plekhh2, and 2310066E14Rik.";
RL J. Am. Soc. Nephrol. 18:689-697(2007).
RN [6]
RP FUNCTION, SELF-ASSOCIATION, AND INTERACTION WITH TGFB1I1.
RX PubMed=22832517; DOI=10.1038/ki.2012.252;
RA Perisic L., Lal M., Hulkko J., Hultenby K., Onfelt B., Sun Y., Duner F.,
RA Patrakka J., Betsholtz C., Uhlen M., Brismar H., Tryggvason K.,
RA Wernerson A., Pikkarainen T.;
RT "Plekhh2, a novel podocyte protein downregulated in human focal segmental
RT glomerulosclerosis, is involved in matrix adhesion and actin dynamics.";
RL Kidney Int. 82:1071-1083(2012).
CC -!- FUNCTION: In the kidney glomerulus may play a role in linking podocyte
CC foot processes to the glomerular basement membrane. May be involved in
CC stabilization of F-actin by attenuating its depolymerization. Can
CC recruit TGFB1I1 from focal adhesions to podocyte lamellipodia.
CC {ECO:0000269|PubMed:22832517}.
CC -!- SUBUNIT: Self-associates. Interacts with TGFB1I1.
CC {ECO:0000269|PubMed:22832517}.
CC -!- INTERACTION:
CC Q8C115; Q62219: Tgfb1i1; NbExp=3; IntAct=EBI-6512409, EBI-642844;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:17251388}. Cell membrane {ECO:0000250}; Peripheral
CC membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell
CC projection, lamellipodium {ECO:0000250}. Note=Localizes to the slit
CC diaphragm and foot process of podocytes. Localization to peripheral
CC regions of lamellipodia seems to be dependent on PI3K (By similarity).
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8C115-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8C115-2; Sequence=VSP_028576, VSP_028577;
CC Name=3;
CC IsoId=Q8C115-3; Sequence=VSP_028578;
CC -!- TISSUE SPECIFICITY: Expressed in the kidney and testis. Expressed in
CC the kidney exclusively by glomerular podocytes.
CC {ECO:0000269|PubMed:17251388}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH21518.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK029252; BAC26356.1; -; mRNA.
DR EMBL; CH466537; EDL38577.1; -; Genomic_DNA.
DR EMBL; BC021518; AAH21518.1; ALT_INIT; mRNA.
DR EMBL; BC125583; AAI25584.1; -; mRNA.
DR EMBL; BC137804; AAI37805.1; -; mRNA.
DR EMBL; AK173337; BAD32615.1; -; Transcribed_RNA.
DR CCDS; CCDS28999.1; -. [Q8C115-1]
DR RefSeq; NP_808274.2; NM_177606.4. [Q8C115-1]
DR RefSeq; XP_006524056.1; XM_006523993.3. [Q8C115-1]
DR RefSeq; XP_006524057.1; XM_006523994.3.
DR RefSeq; XP_017172870.1; XM_017317381.1. [Q8C115-1]
DR AlphaFoldDB; Q8C115; -.
DR SMR; Q8C115; -.
DR IntAct; Q8C115; 2.
DR STRING; 10090.ENSMUSP00000039628; -.
DR iPTMnet; Q8C115; -.
DR PhosphoSitePlus; Q8C115; -.
DR MaxQB; Q8C115; -.
DR PaxDb; Q8C115; -.
DR PRIDE; Q8C115; -.
DR ProteomicsDB; 289748; -. [Q8C115-1]
DR ProteomicsDB; 289749; -. [Q8C115-2]
DR ProteomicsDB; 289750; -. [Q8C115-3]
DR Antibodypedia; 29827; 83 antibodies from 19 providers.
DR DNASU; 213556; -.
DR Ensembl; ENSMUST00000047206; ENSMUSP00000039628; ENSMUSG00000040852. [Q8C115-1]
DR GeneID; 213556; -.
DR KEGG; mmu:213556; -.
DR UCSC; uc008dsv.1; mouse. [Q8C115-2]
DR UCSC; uc008dsw.2; mouse. [Q8C115-1]
DR CTD; 130271; -.
DR MGI; MGI:2146813; Plekhh2.
DR VEuPathDB; HostDB:ENSMUSG00000040852; -.
DR eggNOG; KOG0248; Eukaryota.
DR GeneTree; ENSGT00940000157675; -.
DR HOGENOM; CLU_001626_3_1_1; -.
DR InParanoid; Q8C115; -.
DR OMA; QTPCGSE; -.
DR PhylomeDB; Q8C115; -.
DR TreeFam; TF312866; -.
DR BioGRID-ORCS; 213556; 5 hits in 71 CRISPR screens.
DR ChiTaRS; Plekhh2; mouse.
DR PRO; PR:Q8C115; -.
DR Proteomes; UP000000589; Chromosome 17.
DR RNAct; Q8C115; protein.
DR Bgee; ENSMUSG00000040852; Expressed in embryonic brain and 125 other tissues.
DR Genevisible; Q8C115; MM.
DR GO; GO:0030864; C:cortical actin cytoskeleton; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0030027; C:lamellipodium; ISS:UniProtKB.
DR GO; GO:0016604; C:nuclear body; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0003779; F:actin binding; IDA:UniProtKB.
DR GO; GO:0030835; P:negative regulation of actin filament depolymerization; IDA:UniProtKB.
DR CDD; cd14473; FERM_B-lobe; 1.
DR Gene3D; 1.20.80.10; -; 1.
DR Gene3D; 1.25.40.530; -; 1.
DR Gene3D; 2.30.29.30; -; 3.
DR InterPro; IPR019749; Band_41_domain.
DR InterPro; IPR014352; FERM/acyl-CoA-bd_prot_sf.
DR InterPro; IPR035963; FERM_2.
DR InterPro; IPR019748; FERM_central.
DR InterPro; IPR000299; FERM_domain.
DR InterPro; IPR000857; MyTH4_dom.
DR InterPro; IPR038185; MyTH4_dom_sf.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR Pfam; PF00373; FERM_M; 1.
DR Pfam; PF00784; MyTH4; 1.
DR Pfam; PF00169; PH; 1.
DR SMART; SM00295; B41; 1.
DR SMART; SM00139; MyTH4; 1.
DR SMART; SM00233; PH; 2.
DR SUPFAM; SSF47031; SSF47031; 1.
DR PROSITE; PS50057; FERM_3; 1.
DR PROSITE; PS51016; MYTH4; 1.
DR PROSITE; PS50003; PH_DOMAIN; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Coiled coil;
KW Cytoplasm; Cytoskeleton; Membrane; Reference proteome; Repeat.
FT CHAIN 1..1491
FT /note="Pleckstrin homology domain-containing family H
FT member 2"
FT /id="PRO_0000307122"
FT DOMAIN 702..796
FT /note="PH 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT DOMAIN 810..918
FT /note="PH 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT DOMAIN 954..1109
FT /note="MyTH4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00359"
FT DOMAIN 1120..1449
FT /note="FERM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00084"
FT REGION 232..435
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 506..546
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 612..668
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1466..1491
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 19..177
FT /evidence="ECO:0000255"
FT COMPBIAS 253..283
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 297..313
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 390..409
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 623..637
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1468..1491
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 607..640
FT /note="KATQISSSPFLDDSSGSDEEDSSRSSSRLSESDA -> VMSAFLVVRPMVFS
FT RIVRDSTLGILTSIPLFVEL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028576"
FT VAR_SEQ 641..1491
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028577"
FT VAR_SEQ 702..711
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15368895"
FT /id="VSP_028578"
FT CONFLICT 531
FT /note="K -> E (in Ref. 1; BAC26356)"
FT /evidence="ECO:0000305"
FT CONFLICT 917
FT /note="A -> V (in Ref. 4; BAD32615)"
FT /evidence="ECO:0000305"
FT CONFLICT 1456
FT /note="S -> C (in Ref. 1; BAC26356)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1491 AA; 167733 MW; E1466907976E6A58 CRC64;
MEEPSEPEGL IDWKERCVAL EAQLMKFRVQ ASKIRELLAD KMQQLERQVI DAERQAEKAF
QEVQVMEEKL KAANIQTSES ETRLYKKCQD LESVMQEKDD IIQNLALRLE EQKQVRIQEA
KIIEEKAAKI KEWVTVKLNE LEVENQNLRF INQTQTEEIR AIQSKLQELQ EKKISCVSSP
KTSEGQRNLT FGCFLSRAKS PPCVVRCEEV SKMASNEPEI TEGRCVEEME IAEKPADNQV
QENSRSQRKL HETSCSSEQN QKTRASFAMD GGTSQNSGVP VSDWSSDEDD GSKGRSKSRC
TSTLSSHTSE EGGQCGRLGS EAYLTASDDS SSIFEEETFD GNRPEQKKLC SWQQKAPWKA
QGNLAKGRSQ SGVKEQDSSS DELNKKFHSQ RLDYTSSSSE ANTPSPILTP ALTPRYPNSL
PGKGGAPLVP PPFQPPPKLR VPNVFSISVA LTKRHLSQPQ LCSDRMFGTN RNAISMIRPL
RPQETDLDVV DGDGAEAVNR MDTGCDDGLF SYDSQDPPPC ADDQENSEAP KKAPCNKPPT
PPLHRFPSWE SRIYAVAKSG IRVSEAFNME HANKNSADIL SYSAASLYTS LIYKNMTTPV
YTTLKGKATQ ISSSPFLDDS SGSDEEDSSR SSSRLSESDA RSRSGPSSPR AMKRGVSDSS
AASESDYAIP PDAYPIDAEC SQPEQKLLKT CLASCDNGKN EPLEKSGYLL KMSVRVKTWK
RRWFVLKGGE LLYYKSPSDV IRKPQGHIEL SASCSILRGD NKQTVQLATE KHTYYLTADS
PNILEEWIKV LQSVLRVQAA NPLCLQPEGK PAVKGLLTKV KHGYSKRVWC MLVGKVLYYF
RNQEDKFPLG QLKLWEAKVE EVDRSCDSDE DYETRGCYLL STHYTIIVHP KDQGPTYLLI
GSKHEKEAWL YHLTVAAGSN NINVGSEFEQ LVCKLLNIEG EPSSQIWRHP MLCHSKEGIL
SPLTTLPSEA LQTEAIKLFK TCQLFINAAV DSPAIDYHIS LAQSALQVCL THPELQNEIC
CQLIKQTRRR QLQNQPGPLQ GWQLLALCVG LFLPHHPFLW LLQLHLQRNA DSRTEFGKYA
IYCQRCVERT QQNGDREARP SRMEILSTLL RNPYHHSRPF SIPVHFMNGL YQVVGFDAST
TVEEFLNTLN QDTGMRKPAQ SGFALFTDDP SGRDLEHCLQ GNIKICDIIS KWEQASKEQQ
PGKCEGSRTV RLTYKNRLYF SVQARGETDR EKTLLLYQTN DQIINGLFPL NKDLALEMAA
LLAQVDIGDF ERPFSTPAGP VTNQCKANQT LKQVIERFYP KRYREGCSEE QLRQLYQRLS
TKWMALRGHS AADCIRIYLT VARKWPFFGA KLFFAKPIAP SSLGNNCVWL AVHENGLSIL
EYTSMRLVTS YMYKGLMTFG GYQEDFMVVV STQSKDRPTE KLLFAMAKHK ILEITLLIAS
YINSFHQQKT TFHHLSAPAL LSPRTQAPQA RVMGSQPPLS NSRPTKGPTL L
