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Protein

Pleckstrin homology domain-containing family H member 2

Gene

PLEKHH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia.

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Pleckstrin homology domain-containing family H member 2
Gene namesi
Name:PLEKHH2
Synonyms:KIAA2028
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000152527.13
HGNCiHGNC:30506 PLEKHH2
MIMi612723 gene
neXtProtiNX_Q8IVE3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi130271
OpenTargetsiENSG00000152527
PharmGKBiPA134912826

Polymorphism and mutation databases

BioMutaiPLEKHH2
DMDMi158706383

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003071211 – 1493Pleckstrin homology domain-containing family H member 2Add BLAST1493

Proteomic databases

EPDiQ8IVE3
PaxDbiQ8IVE3
PeptideAtlasiQ8IVE3
PRIDEiQ8IVE3

PTM databases

iPTMnetiQ8IVE3
PhosphoSitePlusiQ8IVE3

Expressioni

Tissue specificityi

Kidney. Reduced expression in patients with focal segmental glomerulosclerosis.1 Publication

Gene expression databases

BgeeiENSG00000152527
CleanExiHS_PLEKHH2
ExpressionAtlasiQ8IVE3 baseline and differential
GenevisibleiQ8IVE3 HS

Organism-specific databases

HPAiHPA077225

Interactioni

Subunit structurei

Self-associates. Interacts with TGFB1I1 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
LPXNO607113EBI-2815745,EBI-744222

GO - Molecular functioni

Protein-protein interaction databases

BioGridi126228, 4 interactors
IntActiQ8IVE3, 6 interactors
STRINGi9606.ENSP00000282406

Structurei

3D structure databases

ProteinModelPortaliQ8IVE3
SMRiQ8IVE3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini703 – 797PH 1PROSITE-ProRule annotationAdd BLAST95
Domaini811 – 919PH 2PROSITE-ProRule annotationAdd BLAST109
Domaini955 – 1110MyTH4PROSITE-ProRule annotationAdd BLAST156
Domaini1121 – 1451FERMPROSITE-ProRule annotationAdd BLAST331

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili20 – 175Sequence analysisAdd BLAST156

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi398 – 402Poly-Ser5
Compositional biasi613 – 666Ser-richAdd BLAST54
Compositional biasi693 – 696Poly-Ser4

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0248 Eukaryota
ENOG410XPCT LUCA
GeneTreeiENSGT00910000144051
HOGENOMiHOG000046075
HOVERGENiHBG108258
InParanoidiQ8IVE3
OMAiGDFERPF
OrthoDBiEOG091G00ZW
PhylomeDBiQ8IVE3
TreeFamiTF312866

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
Gene3Di1.20.80.10, 1 hit
1.25.40.530, 1 hit
2.30.29.30, 3 hits
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR000299 FERM_domain
IPR000857 MyTH4_dom
IPR038185 MyTH4_dom_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PfamiView protein in Pfam
PF00373 FERM_M, 1 hit
PF00784 MyTH4, 1 hit
PF00169 PH, 1 hit
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM00139 MyTH4, 1 hit
SM00233 PH, 2 hits
SUPFAMiSSF47031 SSF47031, 1 hit
PROSITEiView protein in PROSITE
PS50057 FERM_3, 1 hit
PS51016 MYTH4, 1 hit
PS50003 PH_DOMAIN, 2 hits

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IVE3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAELSEPEGP VDWKERCVAL ESQLMKFRVQ ASKIRELLAE KMQQLERQVI
60 70 80 90 100
DAERQAEKAF QQVQVMEDKL KAANIQTSES ETRLYNKCQD LESLIQEKDD
110 120 130 140 150
VIQNLELQLE EQKQIRIQEA KIIEEKAAKI KEWVTVKLNE LELENQNLRL
160 170 180 190 200
INQNQTEEIR TMQSKLQEVQ GKKSSTVSTL KLSEGQRLSS LTFGCFLSRA
210 220 230 240 250
RSPPQVVKSE EMSKISSKEP EFTEGKDMEE MEIPEKSVDN QVLENNRGQR
260 270 280 290 300
TLHQTPCGSE QNRKTRTSFA TDGGISQNSG APVSDWSSDE EDGSKGRSKS
310 320 330 340 350
RCTSTLSSHT SEEGVQCSRM GSEMYLTASD DSSSIFEEET FGIKRPEHKK
360 370 380 390 400
LYSWQQEAQW KALNSPLGKG NSELSKKEQD SSSDELNKKF QSQRLDYSSS
410 420 430 440 450
SSEANTPSPI LTPALMPKHP NSLSGKGTQL VPSSHLPPPK LRIPNVFSIS
460 470 480 490 500
VALAKRHLSQ PQLSSDRMFG TNRNAISMIR PLRPQETDLD LVDGDSTEVL
510 520 530 540 550
ENMDTSCDDG LFSYDSLDSP NSDDQEHCDS AKKVAYSKPP TPPLHRFPSW
560 570 580 590 600
ESRIYAVAKS GIRMSEAFNM ESVNKNSAAT LSYTTSGLYT SLIYKNMTTP
610 620 630 640 650
VYTTLKGKAT QISSSPFLDD SSGSEEEDSS RSSSRTSESD SRSRSGPGSP
660 670 680 690 700
RAMKRGVSLS SVASESDYAI PPDAYSTDTE YSQPEQKLPK TCSSSSDNGK
710 720 730 740 750
NEPLEKSGYL LKMSGKVKSW KRRWFVLKGG ELLYYKSPSD VIRKPQGHIE
760 770 780 790 800
LSASCSILRG DNKQTVQLTT EKHTYYLTAD SPNILEEWIK VLQNVLRVQA
810 820 830 840 850
ANPLSLQPEG KPTMKGLLTK VKHGYSKRVW CTLIGKTLYY FRSQEDKFPL
860 870 880 890 900
GQIKLWEAKV EEVDRSCDSD EDYEASGRSL LSTHYTIVIH PKDQGPTYLL
910 920 930 940 950
IGSKHEKDTW LYHLTVAAGS NNVNVGSEFE QLVCKLLNID GEPSSQIWRH
960 970 980 990 1000
PTLCHSKEGI ISPLTTLPSE ALQTEAIKLF KTCQLFINAA VDSPAIDYHI
1010 1020 1030 1040 1050
SLAQSALQIC LTHPELQNEI CCQLIKQTRR RQPQNQPGPL QGWQLLALCV
1060 1070 1080 1090 1100
GLFLPHHPFL WLLRLHLKRN ADSRTEFGKY AIYCQRCVER TQQNGDREAR
1110 1120 1130 1140 1150
PSRMEILSTL LRNPYHHSLP FSIPVHFMNG IYQVVGFDAS TTVEEFLNTL
1160 1170 1180 1190 1200
NQDTGMRKPA QSGFALFTDD PSGRDLEHCL QGNIKICDII SKWEQASKEQ
1210 1220 1230 1240 1250
QPGKCEGTRT VRLTYKNRLY FSVQARGETD REKLLLMYQT NDQIINGLFP
1260 1270 1280 1290 1300
LNKDLALEMA ALLSQVEIGD FERPFSTPAG HVTNQCKVNQ TLKQVIEKFY
1310 1320 1330 1340 1350
PKRYRDGCSE EQLRQLCQRL STRWMALRGH SAADCVRIYL TVARKWPFFG
1360 1370 1380 1390 1400
AKLFLAKPIT PSSLGSTFLW LAVHEDGLSL LEYNSMRLIV SYVYKSLMTF
1410 1420 1430 1440 1450
GGYQDDFMVV INNTHSKDKP TEKLLFAMAK PKILEITLLI ASYINNFHQQ
1460 1470 1480 1490
KAAFHHLSAP ALLSAQTRGP QARMMGSQPL LSSSRPTKGP TLL
Length:1,493
Mass (Da):168,229
Last modified:October 2, 2007 - v2
Checksum:i5B7765F5FDDE7ED0
GO
Isoform 2 (identifier: Q8IVE3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-563: Missing.

Note: No experimental confirmation available.
Show »
Length:930
Mass (Da):104,835
Checksum:i6A1F6C547A61564C
GO
Isoform 3 (identifier: Q8IVE3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     768-796: LTTEKHTYYLTADSPNILEEWIKVLQNVL → VLNFFFFFFFFVSCQTQFSIIQPNGKEIG
     797-1493: Missing.

Note: No experimental confirmation available.
Show »
Length:796
Mass (Da):89,122
Checksum:i7FCA97B175154B3D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti451V → A in CAI46132 (PubMed:17974005).Curated1
Sequence conflicti730G → C in CAI46132 (PubMed:17974005).Curated1
Sequence conflicti858A → V in CAI46132 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055542228M → V. Corresponds to variant dbSNP:rs10175843Ensembl.1
Natural variantiVAR_035344481P → T. Corresponds to variant dbSNP:rs17031297Ensembl.1
Natural variantiVAR_0353451069R → K. Corresponds to variant dbSNP:rs2278358Ensembl.1
Natural variantiVAR_0353461217N → S. Corresponds to variant dbSNP:rs17031368Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0285731 – 563Missing in isoform 2. 1 PublicationAdd BLAST563
Alternative sequenceiVSP_028574768 – 796LTTEK…LQNVL → VLNFFFFFFFFVSCQTQFSI IQPNGKEIG in isoform 3. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_028575797 – 1493Missing in isoform 3. 1 PublicationAdd BLAST697

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL832207 mRNA Translation: CAI46132.1
AL833400 mRNA Translation: CAD38637.1
BC063310 mRNA Translation: AAH63310.1
AB095948 mRNA Translation: BAC23124.1
CCDSiCCDS1812.1 [Q8IVE3-1]
RefSeqiNP_742066.2, NM_172069.3 [Q8IVE3-1]
XP_016858842.1, XM_017003353.1 [Q8IVE3-2]
UniGeneiHs.164162

Genome annotation databases

EnsembliENST00000282406; ENSP00000282406; ENSG00000152527 [Q8IVE3-1]
GeneIDi130271
KEGGihsa:130271
UCSCiuc010yny.3 human [Q8IVE3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPKHH2_HUMAN
AccessioniPrimary (citable) accession number: Q8IVE3
Secondary accession number(s): Q5JPJ6, Q6P4Q1, Q8N3Q3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: May 23, 2018
This is version 124 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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