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Protein

Pleckstrin homology domain-containing family G member 2

Gene

PLEKHG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-HSA-193648. NRAGE signals death through JNK.
R-HSA-194840. Rho GTPase cycle.
R-HSA-416482. G alpha (12/13) signalling events.

Names & Taxonomyi

Protein namesi
Recommended name:
Pleckstrin homology domain-containing family G member 2
Short name:
PH domain-containing family G member 2
Gene namesi
Name:PLEKHG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:29515. PLEKHG2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi64857.
OpenTargetsiENSG00000090924.
PharmGKBiPA134893492.

Polymorphism and mutation databases

BioMutaiPLEKHG2.
DMDMi296439273.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003068611 – 1386Pleckstrin homology domain-containing family G member 2Add BLAST1386

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei90PhosphoserineCombined sources1
Modified residuei445PhosphothreonineCombined sources1
Modified residuei450PhosphoserineCombined sources1
Modified residuei469PhosphoserineCombined sources1
Modified residuei911PhosphoserineCombined sources1
Modified residuei1049PhosphoserineCombined sources1
Modified residuei1257PhosphothreonineCombined sources1
Modified residuei1261PhosphoserineCombined sources1
Modified residuei1310PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9H7P9.
PaxDbiQ9H7P9.
PeptideAtlasiQ9H7P9.
PRIDEiQ9H7P9.

PTM databases

iPTMnetiQ9H7P9.
PhosphoSitePlusiQ9H7P9.

Expressioni

Gene expression databases

BgeeiENSG00000090924.
CleanExiHS_PLEKHG2.
ExpressionAtlasiQ9H7P9. baseline and differential.
GenevisibleiQ9H7P9. HS.

Organism-specific databases

HPAiHPA017973.
HPA048054.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
B2R8Y43EBI-10175686,EBI-10175581

Protein-protein interaction databases

BioGridi122330. 9 interactors.
IntActiQ9H7P9. 5 interactors.
STRINGi9606.ENSP00000386733.

Structurei

3D structure databases

ProteinModelPortaliQ9H7P9.
SMRiQ9H7P9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini102 – 283DHPROSITE-ProRule annotationAdd BLAST182
Domaini313 – 411PHPROSITE-ProRule annotationAdd BLAST99

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi593 – 600Poly-Glu8
Compositional biasi1067 – 1184Pro-richAdd BLAST118
Compositional biasi1319 – 1328Poly-Pro10
Compositional biasi1344 – 1347Poly-Gly4

Sequence similaritiesi

Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3518. Eukaryota.
ENOG410XR81. LUCA.
GeneTreeiENSGT00760000118925.
HOVERGENiHBG107024.
InParanoidiQ9H7P9.
OMAiVFEMPCL.
OrthoDBiEOG091G00JV.
PhylomeDBiQ9H7P9.
TreeFamiTF328565.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9H7P9-1) [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
MPEGAQGLSL SKPSPSLGCG RRGEVCDCGT VCETRTAPAA PTMASPRGSG
60 70 80 90 100
SSTSLSTVGS EGDPAPGPTP ACSASRPEPL PGPPIRLHLS PVGIPGSARP
110 120 130 140 150
SRLERVAREI VETERAYVRD LRSIVEDYLG PLLDGGVLGL SVEQVGTLFA
160 170 180 190 200
NIEDIYEFSS ELLEDLENSS SAGGIAECFV QRSEDFDIYT LYCMNYPSSL
210 220 230 240 250
ALLRELSLSP PAALWLQERQ AQLRHSLPLQ SFLLKPVQRI LKYHLLLQEL
260 270 280 290 300
GKHWAEGPGT GGREMVEEAI VSMTAVAWYI NDMKRKQEHA ARLQEVQRRL
310 320 330 340 350
GGWTGPELSA FGELVLEGAF RGGGGGGPRL RGGERLLFLF SRMLLVAKRR
360 370 380 390 400
GLEYTYKGHI FCCNLSVSES PRDPLGFKVS DLTIPKHRHL LQAKNQEEKR
410 420 430 440 450
LWIHCLQRLF FENHPASIPA KAKQVLLENS LHCAPKSKPV LEPLTPPLGS
460 470 480 490 500
PRPRDARSFT PGRRNTAPSP GPSVIRRGRR QSEPVKDPYV MFPQNAKPGF
510 520 530 540 550
KHAGSEGELY PPESQPPVSG SAPPEDLEDA GPPTLDPSGT SITEEILELL
560 570 580 590 600
NQRGLRDPGP STHDIPKFPG DSQVPGDSET LTFQALPSRD SSEEEEEEEE
610 620 630 640 650
GLEMDERGPS PLHVLEGLES SIAAEMPSIP CLTKIPDVPN LPEIPSRCEI
660 670 680 690 700
PEGSRLPSLS DISDVFEMPC LPAIPSVPNT PSLSSTPTLS CDSWLQGPLQ
710 720 730 740 750
EPAEAPATRR ELFSGSNPGK LGEPPSGGKA GPEEDEEGVS FTDFQPQDVT
760 770 780 790 800
QHQGFPDELA FRSCSEIRSA WQALEQGQLA RPGFPEPLLI LEDSDLGGDS
810 820 830 840 850
GSGKAGAPSS ERTASRVREL ARLYSERIQQ MQRAETRASA NAPRRRPRVL
860 870 880 890 900
AQPQPSPCLP QEQAEPGLLP AFGHVLVCEL AFPLTCAQES VPLGPAVWVQ
910 920 930 940 950
AAIPLSKQGG SPDGQGLHVS NLPKQDLPGI HVSAATLLPE QGGSRHVQAP
960 970 980 990 1000
AATPLPKQEG PLHLQVPALT TFSDQGHPEI QVPATTPLPE HRSHMVIPAP
1010 1020 1030 1040 1050
STAFCPEQGH CADIHVPTTP ALPKEICSDF TVSVTTPVPK QEGHLDSESP
1060 1070 1080 1090 1100
TNIPLTKQGG SRDVQGPDPV CSQPIQPLSW HGSSLDPQGP GDTLPPLPCH
1110 1120 1130 1140 1150
LPDLQIPGTS PLPAHGSHLD HRIPANAPLS LSQELPDTQV PATTPLPLPQ
1160 1170 1180 1190 1200
VLTDIWVQAL PTSPKQGSLP DIQGPAAAPP LPEPSLTDTQ VQKLTPSLEQ
1210 1220 1230 1240 1250
KSLIDAHVPA ATPLPERGGS LDIQGLSPTP VQTTMVLSKP GGSLASHVAR
1260 1270 1280 1290 1300
LESSDLTPPH SPPPSSRQLL GPNAAALSRY LAASYISQSL ARRQGPGGGA
1310 1320 1330 1340 1350
PAASRGSWSS APTSRASSPP PQPQPPPPPA RRLSYATTVN IHVGGGGRLR
1360 1370 1380
PAKAQVRLNH PALLASTQES MGLHRAQGAP DAPFHM
Length:1,386
Mass (Da):147,969
Last modified:May 18, 2010 - v3
Checksum:i57D35431FCEBDAFA
GO
Isoform 2 (identifier: Q9H7P9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     560-1368: Missing.

Note: No experimental confirmation available.
Show »
Length:577
Mass (Da):62,851
Checksum:i4499E73ED0C1F527
GO
Isoform 3 (identifier: Q9H7P9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     468-496: Missing.

Note: No experimental confirmation available.
Show »
Length:1,357
Mass (Da):144,720
Checksum:i84392788E828CF6B
GO

Sequence cautioni

The sequence BAB15364 differs from that shown. Reason: Frameshift at position 84.Curated
The sequence BAB15719 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035324540T → I.Corresponds to variant rs35904695dbSNPEnsembl.1
Natural variantiVAR_035325622I → V.Corresponds to variant rs16973407dbSNPEnsembl.1
Natural variantiVAR_035326647R → H.1 PublicationCorresponds to variant rs10407035dbSNPEnsembl.1
Natural variantiVAR_035327992R → K.2 PublicationsCorresponds to variant rs31726dbSNPEnsembl.1
Natural variantiVAR_0353281302A → T.Corresponds to variant rs34603507dbSNPEnsembl.1
Natural variantiVAR_0353291329P → A.Combined sources2 PublicationsCorresponds to variant rs31728dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028529468 – 496Missing in isoform 3. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_028530560 – 1368Missing in isoform 2. 1 PublicationAdd BLAST809

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024429 mRNA. Translation: BAB15719.1. Different initiation.
AK026111 mRNA. Translation: BAB15364.1. Frameshift.
AC011500 Genomic DNA. No translation available.
CH471126 Genomic DNA. Translation: EAW56888.1.
BC013426 mRNA. Translation: AAH13426.2.
BC015174 mRNA. Translation: AAH15174.1.
BC075858 mRNA. Translation: AAH75858.1.
CCDSiCCDS33022.2. [Q9H7P9-1]
RefSeqiNP_073746.2. NM_022835.2. [Q9H7P9-1]
XP_005259220.1. XM_005259163.2. [Q9H7P9-1]
UniGeneiHs.631574.

Genome annotation databases

EnsembliENST00000409797; ENSP00000386492; ENSG00000090924. [Q9H7P9-2]
ENST00000425673; ENSP00000392906; ENSG00000090924. [Q9H7P9-1]
GeneIDi64857.
KEGGihsa:64857.
UCSCiuc002olj.4. human. [Q9H7P9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024429 mRNA. Translation: BAB15719.1. Different initiation.
AK026111 mRNA. Translation: BAB15364.1. Frameshift.
AC011500 Genomic DNA. No translation available.
CH471126 Genomic DNA. Translation: EAW56888.1.
BC013426 mRNA. Translation: AAH13426.2.
BC015174 mRNA. Translation: AAH15174.1.
BC075858 mRNA. Translation: AAH75858.1.
CCDSiCCDS33022.2. [Q9H7P9-1]
RefSeqiNP_073746.2. NM_022835.2. [Q9H7P9-1]
XP_005259220.1. XM_005259163.2. [Q9H7P9-1]
UniGeneiHs.631574.

3D structure databases

ProteinModelPortaliQ9H7P9.
SMRiQ9H7P9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122330. 9 interactors.
IntActiQ9H7P9. 5 interactors.
STRINGi9606.ENSP00000386733.

PTM databases

iPTMnetiQ9H7P9.
PhosphoSitePlusiQ9H7P9.

Polymorphism and mutation databases

BioMutaiPLEKHG2.
DMDMi296439273.

Proteomic databases

MaxQBiQ9H7P9.
PaxDbiQ9H7P9.
PeptideAtlasiQ9H7P9.
PRIDEiQ9H7P9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409797; ENSP00000386492; ENSG00000090924. [Q9H7P9-2]
ENST00000425673; ENSP00000392906; ENSG00000090924. [Q9H7P9-1]
GeneIDi64857.
KEGGihsa:64857.
UCSCiuc002olj.4. human. [Q9H7P9-1]

Organism-specific databases

CTDi64857.
DisGeNETi64857.
GeneCardsiPLEKHG2.
H-InvDBHIX0015119.
HGNCiHGNC:29515. PLEKHG2.
HPAiHPA017973.
HPA048054.
MIMi611893. gene.
neXtProtiNX_Q9H7P9.
OpenTargetsiENSG00000090924.
PharmGKBiPA134893492.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3518. Eukaryota.
ENOG410XR81. LUCA.
GeneTreeiENSGT00760000118925.
HOVERGENiHBG107024.
InParanoidiQ9H7P9.
OMAiVFEMPCL.
OrthoDBiEOG091G00JV.
PhylomeDBiQ9H7P9.
TreeFamiTF328565.

Enzyme and pathway databases

ReactomeiR-HSA-193648. NRAGE signals death through JNK.
R-HSA-194840. Rho GTPase cycle.
R-HSA-416482. G alpha (12/13) signalling events.

Miscellaneous databases

ChiTaRSiPLEKHG2. human.
GenomeRNAii64857.
PROiQ9H7P9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000090924.
CleanExiHS_PLEKHG2.
ExpressionAtlasiQ9H7P9. baseline and differential.
GenevisibleiQ9H7P9. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPKHG2_HUMAN
AccessioniPrimary (citable) accession number: Q9H7P9
Secondary accession number(s): B8ZZK6
, C9J0Y4, Q6DHV6, Q96BU2, Q96D18, Q9H699
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 111 of the entry and version 3 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 19
    Human chromosome 19: 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.