GGA2

Golgi associated, gamma adaptin ear containing, ARF binding protein 2 Q9UJY4 GGA2_HUMAN
Protein Coding Chr 16 16p12.2 Swiss-Prot reviewed Entrez 23062
Mutations
434
CL 71 · Tissue 353
Samples
343
CL 57 · Tissue 280
Peptides
213
unique mutant peptides
Transcripts
2
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
Mutations43471353
Samples34357280
Peptides21342171

Function

GGA2 · Golgi associated, gamma adaptin ear containing, ARF binding protein 2

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

2 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
ENST00000309859 Q9UJY4 356 208
ENST00000567468 H3BMM6* 78 61

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16p12.2
Entrez ID
Aliases
VEAR

Recurrent Mutations

All 208 amino-acid changes on canonical ENST00000309859 · 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 GGA2 · 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 GGA2 – 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
Unknown
1/10 10%
1/29 3%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Endometrial Carcinoma
4/42 10%
19/612 3%
Esophageal Squamous Cell Carcinoma
2/51 4%
58/2550 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Melanoma
1/210 0%
35/1899 2%
Cervical Carcinoma
0/35 0%
7/422 2%
Bladder Carcinoma
2/58 3%
13/956 1%
Neuroendocrine Tumour
8/154 5%
2/577 0%
Colorectal Carcinoma
9/143 6%
36/3239 1%
Glioblastoma
1/98 1%
0/0 0%
Osteosarcoma
2/45 4%
0/166 0%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Thyroid Gland Carcinoma
0/45 0%
14/1592 1%
Other Solid Cancers
2/94 2%
11/1515 1%
Gastric Carcinoma
0/74 0%
13/1809 1%
Head and Neck Carcinoma
1/85 1%
8/1574 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Ovarian Carcinoma
4/109 4%
1/998 0%
Mesothelioma
1/62 2%
0/165 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Non-Small Cell Lung Carcinoma
0/304 0%
7/1390 0%
Pancreatic Carcinoma
2/89 2%
4/1611 0%
Non-Cancerous
0/104 0%
3/830 0%
Glioma
0/52 0%
7/2127 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
B-Lymphoblastic Leukemia
3/55 5%
4/2640 0%

Mutation Distribution

Where GGA2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in GGA2 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 434 mutations in GGA2

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