Seroatlas · Human Serome Atlas

PLEKHG2

Pleckstrin homology domain-containing family G member 2

Also known as: ARHGEF42, CLG, FLJ00018, PKHG2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H7P9
Gene: PLEKHG2
Ensembl: ENSG00000090924
Chromosome: 19
Canonical length: 1386 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

1386 residues, UniProt reviewed canonical sequence.

>Q9H7P9|PLEKHG2
     1  MPEGAQGLSL SKPSPSLGCG RRGEVCDCGT VCETRTAPAA PTMASPRGSG SSTSLSTVGS
    61  EGDPAPGPTP ACSASRPEPL PGPPIRLHLS PVGIPGSARP SRLERVAREI VETERAYVRD
   121  LRSIVEDYLG PLLDGGVLGL SVEQVGTLFA NIEDIYEFSS ELLEDLENSS SAGGIAECFV
   181  QRSEDFDIYT LYCMNYPSSL ALLRELSLSP PAALWLQERQ AQLRHSLPLQ SFLLKPVQRI
   241  LKYHLLLQEL GKHWAEGPGT GGREMVEEAI VSMTAVAWYI NDMKRKQEHA ARLQEVQRRL
   301  GGWTGPELSA FGELVLEGAF RGGGGGGPRL RGGERLLFLF SRMLLVAKRR GLEYTYKGHI
   361  FCCNLSVSES PRDPLGFKVS DLTIPKHRHL LQAKNQEEKR LWIHCLQRLF FENHPASIPA
   421  KAKQVLLENS LHCAPKSKPV LEPLTPPLGS PRPRDARSFT PGRRNTAPSP GPSVIRRGRR
   481  QSEPVKDPYV MFPQNAKPGF KHAGSEGELY PPESQPPVSG SAPPEDLEDA GPPTLDPSGT
   541  SITEEILELL NQRGLRDPGP STHDIPKFPG DSQVPGDSET LTFQALPSRD SSEEEEEEEE
   601  GLEMDERGPS PLHVLEGLES SIAAEMPSIP CLTKIPDVPN LPEIPSRCEI PEGSRLPSLS
   661  DISDVFEMPC LPAIPSVPNT PSLSSTPTLS CDSWLQGPLQ EPAEAPATRR ELFSGSNPGK
   721  LGEPPSGGKA GPEEDEEGVS FTDFQPQDVT QHQGFPDELA FRSCSEIRSA WQALEQGQLA
   781  RPGFPEPLLI LEDSDLGGDS GSGKAGAPSS ERTASRVREL ARLYSERIQQ MQRAETRASA
   841  NAPRRRPRVL AQPQPSPCLP QEQAEPGLLP AFGHVLVCEL AFPLTCAQES VPLGPAVWVQ
   901  AAIPLSKQGG SPDGQGLHVS NLPKQDLPGI HVSAATLLPE QGGSRHVQAP AATPLPKQEG
   961  PLHLQVPALT TFSDQGHPEI QVPATTPLPE HRSHMVIPAP STAFCPEQGH CADIHVPTTP
  1021  ALPKEICSDF TVSVTTPVPK QEGHLDSESP TNIPLTKQGG SRDVQGPDPV CSQPIQPLSW
  1081  HGSSLDPQGP GDTLPPLPCH LPDLQIPGTS PLPAHGSHLD HRIPANAPLS LSQELPDTQV
  1141  PATTPLPLPQ VLTDIWVQAL PTSPKQGSLP DIQGPAAAPP LPEPSLTDTQ VQKLTPSLEQ
  1201  KSLIDAHVPA ATPLPERGGS LDIQGLSPTP VQTTMVLSKP GGSLASHVAR LESSDLTPPH
  1261  SPPPSSRQLL GPNAAALSRY LAASYISQSL ARRQGPGGGA PAASRGSWSS APTSRASSPP
  1321  PQPQPPPPPA RRLSYATTVN IHVGGGGRLR PAKAQVRLNH PALLASTQES MGLHRAQGAP
  1381  DAPFHM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLEKHG2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.59
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

lung: 40 nTPM
blood vessel: 38 nTPM
spleen: 32 nTPM
adipose tissue: 31 nTPM
endometrium: 29 nTPM
cervix: 28 nTPM

Single-cell type

salivary myoepithelial cells: 192 nCPM
medullary thymic epithelial cells: 182 nCPM
pdcs: 180 nCPM
salivary acinar cells: 168 nCPM
alveolar cells type 2: 158 nCPM
breast myoepithelial cells: 138 nCPM

Immune cell

plasmacytoid DC: 1.5 nTPM
gdT-cell: 1.4 nTPM
T-reg: 1.3 nTPM
memory B-cell: 1.2 nTPM
naive CD8 T-cell: 1.2 nTPM
naive B-cell: 1.1 nTPM

Brain region

choroid plexus: 22 nTPM
thalamus: 19 nTPM
medulla oblongata: 14 nTPM
cerebral cortex: 9.3 nTPM
white matter: 9.3 nTPM
pons: 9.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLEKHG2.

Disease | AllUniProt

Conditions PLEKHG2 is implicated in, by any mechanism.

Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) MIM:616763

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 622 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Leukodystrophy and acquired microcephaly with or without dystonia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.61
gnomAD pLI: 0
gnomAD missense Z: 0.8
DepMap mean gene effect: -0.16
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

regulation of actin filament polymerization

Molecular functions

Cellular components

cytosol

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PLEKHG2 as an antibody target. Whether an autoantibody or antibody against PLEKHG2 could matter depends on whether native PLEKHG2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PLEKHG2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PLEKHG2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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