UniProtKB - Q8IVE3 (PKHH2_HUMAN)
Pleckstrin homology domain-containing family H member 2
PLEKHH2
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
- actin binding Source: UniProtKB
GO - Biological processi
- negative regulation of actin filament depolymerization Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q8IVE3 |
SignaLinki | Q8IVE3 |
Names & Taxonomyi
Protein namesi | Recommended name: Pleckstrin homology domain-containing family H member 2 |
Gene namesi | Name:PLEKHH2 Synonyms:KIAA2028 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:30506, PLEKHH2 |
MIMi | 612723, gene |
neXtProti | NX_Q8IVE3 |
VEuPathDBi | HostDB:ENSG00000152527 |
Subcellular locationi
Cytoskeleton
- cytoskeleton 1 Publication
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Plasma membrane
- Cell membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side 1 Publication
Other locations
- lamellipodium 1 Publication
Note: Localizes to foot process of podocytes. Localization to peripheral regions of lamellipodia seems to be dependent on PI3K.
Cytoskeleton
- cortical actin cytoskeleton Source: UniProtKB
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- lamellipodium Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 130271 |
OpenTargetsi | ENSG00000152527 |
PharmGKBi | PA134912826 |
Miscellaneous databases
Pharosi | Q8IVE3, Tdark |
Genetic variation databases
BioMutai | PLEKHH2 |
DMDMi | 158706383 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000307121 | 1 – 1493 | Pleckstrin homology domain-containing family H member 2Add BLAST | 1493 |
Proteomic databases
EPDi | Q8IVE3 |
jPOSTi | Q8IVE3 |
MassIVEi | Q8IVE3 |
PaxDbi | Q8IVE3 |
PeptideAtlasi | Q8IVE3 |
PRIDEi | Q8IVE3 |
ProteomicsDBi | 70683 [Q8IVE3-1] 70684 [Q8IVE3-2] 70685 [Q8IVE3-3] |
PTM databases
iPTMneti | Q8IVE3 |
PhosphoSitePlusi | Q8IVE3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000152527, Expressed in lung and 194 other tissues |
ExpressionAtlasi | Q8IVE3, baseline and differential |
Genevisiblei | Q8IVE3, HS |
Organism-specific databases
HPAi | ENSG00000152527, Low tissue specificity |
Interactioni
Subunit structurei
Self-associates.
Interacts with TGFB1I1 (By similarity).
By similarityBinary interactionsi
Q8IVE3
With | #Exp. | IntAct |
---|---|---|
LPXN [O60711] | 4 | EBI-2815745,EBI-744222 |
Isoform 3 [Q8IVE3-3]
With | #Exp. | IntAct |
---|---|---|
PXN - isoform Alpha [P49023-2] | 3 | EBI-11954248,EBI-11954250 |
GO - Molecular functioni
- actin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 126228, 9 interactors |
IntActi | Q8IVE3, 6 interactors |
STRINGi | 9606.ENSP00000282406 |
Miscellaneous databases
RNActi | Q8IVE3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 703 – 797 | PH 1PROSITE-ProRule annotationAdd BLAST | 95 | |
Domaini | 811 – 919 | PH 2PROSITE-ProRule annotationAdd BLAST | 109 | |
Domaini | 955 – 1110 | MyTH4PROSITE-ProRule annotationAdd BLAST | 156 | |
Domaini | 1121 – 1451 | FERMPROSITE-ProRule annotationAdd BLAST | 331 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 202 – 230 | DisorderedSequence analysisAdd BLAST | 29 | |
Regioni | 245 – 335 | DisorderedSequence analysisAdd BLAST | 91 | |
Regioni | 363 – 439 | DisorderedSequence analysisAdd BLAST | 77 | |
Regioni | 613 – 705 | DisorderedSequence analysisAdd BLAST | 93 | |
Regioni | 1474 – 1493 | DisorderedSequence analysisAdd BLAST | 20 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 20 – 175 | Sequence analysisAdd BLAST | 156 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 212 – 230 | Basic and acidic residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 245 – 285 | Polar residuesSequence analysisAdd BLAST | 41 | |
Compositional biasi | 299 – 335 | Polar residuesSequence analysisAdd BLAST | 37 | |
Compositional biasi | 373 – 391 | Basic and acidic residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 392 – 409 | Polar residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 624 – 638 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 676 – 702 | Polar residuesSequence analysisAdd BLAST | 27 |
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG0248, Eukaryota |
GeneTreei | ENSGT00940000157675 |
HOGENOMi | CLU_001626_3_1_1 |
InParanoidi | Q8IVE3 |
OMAi | QTPCGSE |
OrthoDBi | 75793at2759 |
PhylomeDBi | Q8IVE3 |
TreeFami | TF312866 |
Family and domain databases
CDDi | cd14473, FERM_B-lobe, 1 hit |
Gene3Di | 1.20.80.10, 1 hit 1.25.40.530, 1 hit 2.30.29.30, 3 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF00373, FERM_M, 1 hit PF00784, MyTH4, 1 hit PF00169, PH, 1 hit |
SMARTi | View protein in SMART SM00295, B41, 1 hit SM00139, MyTH4, 1 hit SM00233, PH, 2 hits |
SUPFAMi | SSF47031, SSF47031, 1 hit |
PROSITEi | View protein in PROSITE PS50057, FERM_3, 1 hit PS51016, MYTH4, 1 hit PS50003, PH_DOMAIN, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RGK1 | E5RGK1_HUMAN | Pleckstrin homology domain-containi... | PLEKHH2 | 89 | Annotation score: | ||
H0YBV1 | H0YBV1_HUMAN | Pleckstrin homology domain-containi... | PLEKHH2 | 88 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 451 | V → A in CAI46132 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 730 | G → C in CAI46132 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 858 | A → V in CAI46132 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_055542 | 228 | M → V. Corresponds to variant dbSNP:rs10175843Ensembl. | 1 | |
Natural variantiVAR_035344 | 481 | P → T. Corresponds to variant dbSNP:rs17031297Ensembl. | 1 | |
Natural variantiVAR_035345 | 1069 | R → K. Corresponds to variant dbSNP:rs2278358Ensembl. | 1 | |
Natural variantiVAR_035346 | 1217 | N → S. Corresponds to variant dbSNP:rs17031368Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_028573 | 1 – 563 | Missing in isoform 2. 1 PublicationAdd BLAST | 563 | |
Alternative sequenceiVSP_028574 | 768 – 796 | LTTEK…LQNVL → VLNFFFFFFFFVSCQTQFSI IQPNGKEIG in isoform 3. 1 PublicationAdd BLAST | 29 | |
Alternative sequenceiVSP_028575 | 797 – 1493 | Missing in isoform 3. 1 PublicationAdd BLAST | 697 |
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 |
CCDSi | CCDS1812.1 [Q8IVE3-1] |
RefSeqi | NP_742066.2, NM_172069.3 [Q8IVE3-1] XP_016858842.1, XM_017003353.1 [Q8IVE3-2] |
Genome annotation databases
Ensembli | ENST00000282406; ENSP00000282406; ENSG00000152527 |
GeneIDi | 130271 |
KEGGi | hsa:130271 |
MANE-Selecti | ENST00000282406.9; ENSP00000282406.4; NM_172069.4; NP_742066.2 |
UCSCi | uc010yny.3, human [Q8IVE3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS1812.1 [Q8IVE3-1] |
RefSeqi | NP_742066.2, NM_172069.3 [Q8IVE3-1] XP_016858842.1, XM_017003353.1 [Q8IVE3-2] |
3D structure databases
SMRi | Q8IVE3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126228, 9 interactors |
IntActi | Q8IVE3, 6 interactors |
STRINGi | 9606.ENSP00000282406 |
PTM databases
iPTMneti | Q8IVE3 |
PhosphoSitePlusi | Q8IVE3 |
Genetic variation databases
BioMutai | PLEKHH2 |
DMDMi | 158706383 |
Proteomic databases
EPDi | Q8IVE3 |
jPOSTi | Q8IVE3 |
MassIVEi | Q8IVE3 |
PaxDbi | Q8IVE3 |
PeptideAtlasi | Q8IVE3 |
PRIDEi | Q8IVE3 |
ProteomicsDBi | 70683 [Q8IVE3-1] 70684 [Q8IVE3-2] 70685 [Q8IVE3-3] |
Protocols and materials databases
Antibodypediai | 29827, 82 antibodies from 19 providers |
DNASUi | 130271 |
Genome annotation databases
Ensembli | ENST00000282406; ENSP00000282406; ENSG00000152527 |
GeneIDi | 130271 |
KEGGi | hsa:130271 |
MANE-Selecti | ENST00000282406.9; ENSP00000282406.4; NM_172069.4; NP_742066.2 |
UCSCi | uc010yny.3, human [Q8IVE3-1] |
Organism-specific databases
CTDi | 130271 |
DisGeNETi | 130271 |
GeneCardsi | PLEKHH2 |
HGNCi | HGNC:30506, PLEKHH2 |
HPAi | ENSG00000152527, Low tissue specificity |
MIMi | 612723, gene |
neXtProti | NX_Q8IVE3 |
OpenTargetsi | ENSG00000152527 |
PharmGKBi | PA134912826 |
VEuPathDBi | HostDB:ENSG00000152527 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0248, Eukaryota |
GeneTreei | ENSGT00940000157675 |
HOGENOMi | CLU_001626_3_1_1 |
InParanoidi | Q8IVE3 |
OMAi | QTPCGSE |
OrthoDBi | 75793at2759 |
PhylomeDBi | Q8IVE3 |
TreeFami | TF312866 |
Enzyme and pathway databases
PathwayCommonsi | Q8IVE3 |
SignaLinki | Q8IVE3 |
Miscellaneous databases
BioGRID-ORCSi | 130271, 5 hits in 1030 CRISPR screens |
ChiTaRSi | PLEKHH2, human |
GenomeRNAii | 130271 |
Pharosi | Q8IVE3, Tdark |
PROi | PR:Q8IVE3 |
RNActi | Q8IVE3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000152527, Expressed in lung and 194 other tissues |
ExpressionAtlasi | Q8IVE3, baseline and differential |
Genevisiblei | Q8IVE3, HS |
Family and domain databases
CDDi | cd14473, FERM_B-lobe, 1 hit |
Gene3Di | 1.20.80.10, 1 hit 1.25.40.530, 1 hit 2.30.29.30, 3 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF00373, FERM_M, 1 hit PF00784, MyTH4, 1 hit PF00169, PH, 1 hit |
SMARTi | View protein in SMART SM00295, B41, 1 hit SM00139, MyTH4, 1 hit SM00233, PH, 2 hits |
SUPFAMi | SSF47031, SSF47031, 1 hit |
PROSITEi | View protein in PROSITE PS50057, FERM_3, 1 hit PS51016, MYTH4, 1 hit PS50003, PH_DOMAIN, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | PKHH2_HUMAN | |
Accessioni | Q8IVE3Primary (citable) accession number: Q8IVE3 Secondary accession number(s): Q5JPJ6, Q6P4Q1, Q8N3Q3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 2, 2007 |
Last sequence update: | October 2, 2007 | |
Last modified: | February 23, 2022 | |
This is version 147 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot