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Protein

Pleckstrin homology domain-containing family H member 2

Gene

PLEKHH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

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

HGNCiHGNC:30506. PLEKHH2.

Subcellular locationi

GO - Cellular componenti

  • cortical actin cytoskeleton Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • lamellipodium Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134912826.

Polymorphism and mutation databases

BioMutaiPLEKHH2.
DMDMi158706383.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14931493Pleckstrin homology domain-containing family H member 2PRO_0000307121Add
BLAST

Proteomic databases

EPDiQ8IVE3.
PaxDbiQ8IVE3.
PRIDEiQ8IVE3.

PTM databases

iPTMnetiQ8IVE3.
PhosphoSiteiQ8IVE3.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ8IVE3.
CleanExiHS_PLEKHH2.
ExpressionAtlasiQ8IVE3. baseline and differential.
GenevisibleiQ8IVE3. HS.

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. 3 interactions.
IntActiQ8IVE3. 5 interactions.
MINTiMINT-4717619.
STRINGi9606.ENSP00000282406.

Structurei

3D structure databases

ProteinModelPortaliQ8IVE3.
SMRiQ8IVE3. Positions 705-793, 814-918, 972-1445.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini703 – 79795PH 1PROSITE-ProRule annotationAdd
BLAST
Domaini811 – 919109PH 2PROSITE-ProRule annotationAdd
BLAST
Domaini955 – 1110156MyTH4PROSITE-ProRule annotationAdd
BLAST
Domaini1121 – 1451331FERMPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili20 – 175156Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi398 – 4025Poly-Ser
Compositional biasi613 – 66654Ser-richAdd
BLAST
Compositional biasi693 – 6964Poly-Ser

Sequence similaritiesi

Contains 1 FERM domain.PROSITE-ProRule annotation
Contains 1 MyTH4 domain.PROSITE-ProRule annotation
Contains 2 PH domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0248. Eukaryota.
ENOG410XPCT. LUCA.
GeneTreeiENSGT00780000121979.
HOGENOMiHOG000046075.
HOVERGENiHBG108258.
InParanoidiQ8IVE3.
OMAiQVEIGDF.
OrthoDBiEOG72VH56.
PhylomeDBiQ8IVE3.
TreeFamiTF312866.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 2 hits.
InterProiIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR000857. MyTH4_dom.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00373. FERM_M. 1 hit.
PF00784. MyTH4. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00295. B41. 1 hit.
SM00139. MyTH4. 1 hit.
SM00233. PH. 2 hits.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 3 hits.
PROSITEiPS50057. FERM_3. 1 hit.
PS51016. MYTH4. 1 hit.
PS50003. PH_DOMAIN. 2 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti451 – 4511V → A in CAI46132 (PubMed:17974005).Curated
Sequence conflicti730 – 7301G → C in CAI46132 (PubMed:17974005).Curated
Sequence conflicti858 – 8581A → V in CAI46132 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti228 – 2281M → V.
Corresponds to variant rs10175843 [ dbSNP | Ensembl ].
VAR_055542
Natural varianti481 – 4811P → T.
Corresponds to variant rs17031297 [ dbSNP | Ensembl ].
VAR_035344
Natural varianti1069 – 10691R → K.
Corresponds to variant rs2278358 [ dbSNP | Ensembl ].
VAR_035345
Natural varianti1217 – 12171N → S.
Corresponds to variant rs17031368 [ dbSNP | Ensembl ].
VAR_035346

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 563563Missing in isoform 2. 1 PublicationVSP_028573Add
BLAST
Alternative sequencei768 – 79629LTTEK…LQNVL → VLNFFFFFFFFVSCQTQFSI IQPNGKEIG in isoform 3. 1 PublicationVSP_028574Add
BLAST
Alternative sequencei797 – 1493697Missing in isoform 3. 1 PublicationVSP_028575Add
BLAST

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_011530841.1. XM_011532539.1. [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

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.
CCDSiCCDS1812.1. [Q8IVE3-1]
RefSeqiNP_742066.2. NM_172069.3. [Q8IVE3-1]
XP_011530841.1. XM_011532539.1. [Q8IVE3-2]
UniGeneiHs.164162.

3D structure databases

ProteinModelPortaliQ8IVE3.
SMRiQ8IVE3. Positions 705-793, 814-918, 972-1445.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126228. 3 interactions.
IntActiQ8IVE3. 5 interactions.
MINTiMINT-4717619.
STRINGi9606.ENSP00000282406.

PTM databases

iPTMnetiQ8IVE3.
PhosphoSiteiQ8IVE3.

Polymorphism and mutation databases

BioMutaiPLEKHH2.
DMDMi158706383.

Proteomic databases

EPDiQ8IVE3.
PaxDbiQ8IVE3.
PRIDEiQ8IVE3.

Protocols and materials databases

DNASUi130271.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi130271.
GeneCardsiPLEKHH2.
H-InvDBHIX0200306.
HGNCiHGNC:30506. PLEKHH2.
MIMi612723. gene.
neXtProtiNX_Q8IVE3.
PharmGKBiPA134912826.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0248. Eukaryota.
ENOG410XPCT. LUCA.
GeneTreeiENSGT00780000121979.
HOGENOMiHOG000046075.
HOVERGENiHBG108258.
InParanoidiQ8IVE3.
OMAiQVEIGDF.
OrthoDBiEOG72VH56.
PhylomeDBiQ8IVE3.
TreeFamiTF312866.

Miscellaneous databases

GenomeRNAii130271.
NextBioi82722.
PROiQ8IVE3.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IVE3.
CleanExiHS_PLEKHH2.
ExpressionAtlasiQ8IVE3. baseline and differential.
GenevisibleiQ8IVE3. HS.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 2 hits.
InterProiIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR000857. MyTH4_dom.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00373. FERM_M. 1 hit.
PF00784. MyTH4. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00295. B41. 1 hit.
SM00139. MyTH4. 1 hit.
SM00233. PH. 2 hits.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 3 hits.
PROSITEiPS50057. FERM_3. 1 hit.
PS51016. MYTH4. 1 hit.
PS50003. PH_DOMAIN. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Adipose tissue and Cervix.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Placenta.
  3. "The nucleotide sequence of a long cDNA clone isolated from human."
    Nagase T., Kikuno R., Ohara O.
    Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 45-1493 (ISOFORM 1).
    Tissue: Brain.
  4. "Plekhh2, a novel podocyte protein downregulated in human focal segmental glomerulosclerosis, is involved in matrix adhesion and actin dynamics."
    Perisic L., Lal M., Hulkko J., Hultenby K., Onfelt B., Sun Y., Duner F., Patrakka J., Betsholtz C., Uhlen M., Brismar H., Tryggvason K., Wernerson A., Pikkarainen T.
    Kidney Int. 82:1071-1083(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiPKHH2_HUMAN
AccessioniPrimary (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: March 16, 2016
This is version 105 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.