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Entry version 136 (11 Dec 2019)
Sequence version 3 (18 May 2010)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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) (PubMed:18045877). Involved in the regulation of actin polymerization (PubMed:26573021).By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pleckstrin homology domain-containing family G member 2
Short name:
PH domain-containing family G member 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PLEKHG2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000090924.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29515 PLEKHG2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611893 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H7P9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurologic disorder characterized by profound mental retardation, dystonia, postnatal microcephaly, and white matter abnormalities consistent with leukodystrophy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078577204R → W in LDAMD; results in impaired regulation of actin polymerization. 1 PublicationCorresponds to variant dbSNP:rs201201843EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leukodystrophy, Mental retardation, Tumor suppressor

Organism-specific databases

DisGeNET

More...
DisGeNETi
64857

MalaCards human disease database

More...
MalaCardsi
PLEKHG2
MIMi616763 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000090924

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134893492

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H7P9 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PLEKHG2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439273

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003068611 – 1386Pleckstrin homology domain-containing family G member 2Add BLAST1386

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H7P9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9H7P9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H7P9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H7P9

PeptideAtlas

More...
PeptideAtlasi
Q9H7P9

PRoteomics IDEntifications database

More...
PRIDEi
Q9H7P9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81135 [Q9H7P9-1]
81136 [Q9H7P9-2]
81137 [Q9H7P9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H7P9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H7P9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000090924 Expressed in 135 organ(s), highest expression level in descending thoracic aorta

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H7P9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H7P9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA017973
HPA048054

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122330, 11 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H7P9, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000392906

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H7P9 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H7P9

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini102 – 283DHPROSITE-ProRule annotationAdd BLAST182
Domaini313 – 411PHPROSITE-ProRule annotationAdd BLAST99

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi593 – 600Poly-Glu8
Compositional biasi1067 – 1184Pro-richAdd BLAST118
Compositional biasi1319 – 1328Poly-Pro10
Compositional biasi1344 – 1347Poly-Gly4

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3518 Eukaryota
ENOG410XR81 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162093

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H7P9

Identification of Orthologs from Complete Genome Data

More...
OMAi
CDCAAVC

Database of Orthologous Groups

More...
OrthoDBi
147068at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H7P9

TreeFam database of animal gene trees

More...
TreeFami
TF328565

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00160 RhoGEF, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.900.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011993 PH-like_dom_sf
IPR001849 PH_domain

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00169 PH, 1 hit
PF00621 RhoGEF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48065 SSF48065, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H7P9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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.

Show »
Length:1,357
Mass (Da):144,720
Checksum:i84392788E828CF6B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JVL3C9JVL3_HUMAN
Pleckstrin homology domain-containi...
PLEKHG2
198Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7ESZ3E7ESZ3_HUMAN
Pleckstrin homology domain-containi...
PLEKHG2
1,237Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BXC7H7BXC7_HUMAN
Pleckstrin homology domain-containi...
PLEKHG2
1,254Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J7S4C9J7S4_HUMAN
Pleckstrin homology domain-containi...
PLEKHG2
127Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QX05M0QX05_HUMAN
Pleckstrin homology domain-containi...
PLEKHG2
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QZT7M0QZT7_HUMAN
Pleckstrin homology domain-containi...
PLEKHG2
153Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R348M0R348_HUMAN
Pleckstrin homology domain-containi...
PLEKHG2
84Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R3J0M0R3J0_HUMAN
Pleckstrin homology domain-containi...
PLEKHG2
103Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R391M0R391_HUMAN
Pleckstrin homology domain-containi...
PLEKHG2
48Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R3G5M0R3G5_HUMAN
Pleckstrin homology domain-containi...
PLEKHG2
95Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15364 differs from that shown. Reason: Frameshift.Curated
The sequence BAB15719 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078577204R → W in LDAMD; results in impaired regulation of actin polymerization. 1 PublicationCorresponds to variant dbSNP:rs201201843EnsemblClinVar.1
Natural variantiVAR_035324540T → I. Corresponds to variant dbSNP:rs35904695Ensembl.1
Natural variantiVAR_035325622I → V. Corresponds to variant dbSNP:rs16973407Ensembl.1
Natural variantiVAR_035326647R → H1 PublicationCorresponds to variant dbSNP:rs10407035Ensembl.1
Natural variantiVAR_035327992R → K2 PublicationsCorresponds to variant dbSNP:rs31726Ensembl.1
Natural variantiVAR_0353281302A → T. Corresponds to variant dbSNP:rs34603507Ensembl.1
Natural variantiVAR_0353291329P → ACombined sources2 PublicationsCorresponds to variant dbSNP:rs31728Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS33022.2 [Q9H7P9-1]
CCDS86766.1 [Q9H7P9-2]

NCBI Reference Sequences

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RefSeqi
NP_073746.2, NM_022835.2 [Q9H7P9-1]
XP_005259220.1, XM_005259163.2 [Q9H7P9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000409797; ENSP00000386492; ENSG00000090924 [Q9H7P9-2]
ENST00000425673; ENSP00000392906; ENSG00000090924 [Q9H7P9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64857

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64857

UCSC genome browser

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UCSCi
uc002olj.4 human [Q9H7P9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]
CCDS86766.1 [Q9H7P9-2]
RefSeqiNP_073746.2, NM_022835.2 [Q9H7P9-1]
XP_005259220.1, XM_005259163.2 [Q9H7P9-1]

3D structure databases

SMRiQ9H7P9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122330, 11 interactors
IntActiQ9H7P9, 6 interactors
STRINGi9606.ENSP00000392906

PTM databases

iPTMnetiQ9H7P9
PhosphoSitePlusiQ9H7P9

Polymorphism and mutation databases

BioMutaiPLEKHG2
DMDMi296439273

Proteomic databases

jPOSTiQ9H7P9
MassIVEiQ9H7P9
MaxQBiQ9H7P9
PaxDbiQ9H7P9
PeptideAtlasiQ9H7P9
PRIDEiQ9H7P9
ProteomicsDBi81135 [Q9H7P9-1]
81136 [Q9H7P9-2]
81137 [Q9H7P9-3]

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64857
DisGeNETi64857
EuPathDBiHostDB:ENSG00000090924.14

GeneCards: human genes, protein and diseases

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GeneCardsi
PLEKHG2
HGNCiHGNC:29515 PLEKHG2
HPAiHPA017973
HPA048054
MalaCardsiPLEKHG2
MIMi611893 gene
616763 phenotype
neXtProtiNX_Q9H7P9
OpenTargetsiENSG00000090924
PharmGKBiPA134893492

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3518 Eukaryota
ENOG410XR81 LUCA
GeneTreeiENSGT00940000162093
InParanoidiQ9H7P9
OMAiCDCAAVC
OrthoDBi147068at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PLEKHG2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
64857
PharosiQ9H7P9 Tbio

Protein Ontology

More...
PROi
PR:Q9H7P9
RNActiQ9H7P9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000090924 Expressed in 135 organ(s), highest expression level in descending thoracic aorta
ExpressionAtlasiQ9H7P9 baseline and differential
GenevisibleiQ9H7P9 HS

Family and domain databases

CDDicd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPKHG2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H7P9
Secondary accession number(s): B8ZZK6
, C9J0Y4, Q6DHV6, Q96BU2, Q96D18, Q9H699
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 18, 2010
Last modified: December 11, 2019
This is version 136 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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