PLEKHG2

Pleckstrin homology and RhoGEF domain containing G2 Q9H7P9 PKHG2_HUMAN
Protein Coding Chr 19 19q13.2 Swiss-Prot reviewed Entrez 64857
Mutations
1,581
CL 209 · Tissue 1,352
Samples
672
CL 116 · Tissue 546
Peptides
565
unique mutant peptides
Transcripts
3
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations1,5812091,352
Samples672116546
Peptides56598477

Function

PLEKHG2 · Pleckstrin homology and RhoGEF domain containing G2

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].

Isoforms & Proteins

3 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000425673 Q9H7P9 743 531
ENST00000458508 E7ESZ3* 580 436
ENST00000409797 Q9H7P9-2 258 200

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19q13.2
Entrez ID
Aliases
ARHGEF42CLGCTB-60E11.4LDAMD

Recurrent Mutations

All 530 amino-acid changes on canonical ENST00000425673 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in PLEKHG2 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PLEKHG2 – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
T-Lymphoblastic Leukemia
8/40 20%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Endometrial Carcinoma
5/42 12%
32/612 5%
Melanoma
15/210 7%
84/1899 4%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
4/133 3%
Colorectal Carcinoma
13/143 9%
82/3239 3%
Other Solid Cancers
2/94 2%
37/1515 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Cervical Carcinoma
5/35 14%
5/422 1%
Gastric Carcinoma
1/74 1%
40/1809 2%
Squamous Cell Lung Carcinoma
3/57 5%
15/810 2%
Bladder Carcinoma
1/58 2%
20/956 2%
Glioblastoma
2/98 2%
0/0 0%
Non-Small Cell Lung Carcinoma
6/304 2%
24/1390 2%
Neuroendocrine Tumour
5/154 3%
6/577 1%
Osteosarcoma
2/45 4%
1/166 1%
Esophageal Carcinoma
0/23 0%
11/769 1%
Head and Neck Carcinoma
2/85 2%
20/1574 1%
Ovarian Carcinoma
6/109 6%
8/998 1%
Plasma Cell Myeloma
1/44 2%
3/305 1%
Non-Cancerous
0/104 0%
10/830 1%
Other Sarcomas
3/69 4%
5/699 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Pancreatic Carcinoma
3/89 3%
13/1611 1%
Ewings Sarcoma
0/63 0%
3/262 1%
Small Cell Lung Carcinoma
0/9 0%
7/752 1%
Biliary Tract Carcinoma
1/54 2%
8/950 1%
Burkitts Lymphoma
1/32 3%
1/196 1%

Mutation Distribution

Where PLEKHG2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PLEKHG2 were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 1,581 mutations in PLEKHG2

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide