AGR2

Anterior gradient 2, protein disulphide isomerase family member O95994 AGR2_HUMAN
Protein Coding Chr 7 7p21.1 Swiss-Prot reviewed Entrez 10551
Mutations
157
CL 11 · Tissue 145
Samples
85
CL 9 · Tissue 75
Peptides
72
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
Mutations15711145
Samples85975
Peptides72766

Function

AGR2 · Anterior gradient 2, protein disulphide isomerase family member

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017].

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
ENST00000419304 O95994 82 59
ENST00000401412 B5MC07* 75 55

Gene Properties

Type
Protein Coding
Chromosome
7
Cytoband
7p21.1
Entrez ID
Aliases
AG-2AG2GOB-4HAG-2HEL-S-116HPC8

Recurrent Mutations

All 59 amino-acid changes on canonical ENST00000419304 · 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 AGR2 · 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 AGR2 – 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
Endometrial Carcinoma
0/42 0%
6/612 1%
Melanoma
0/210 0%
17/1899 1%
Other Sarcomas
1/69 1%
3/699 0%
Mesothelioma
1/62 2%
0/165 0%
Colorectal Carcinoma
2/143 1%
11/3239 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Non-Small Cell Lung Carcinoma
1/304 0%
3/1390 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Gastric Carcinoma
0/74 0%
4/1809 0%
Wilms Tumour
0/5 0%
1/474 0%
Breast Carcinoma
0/144 0%
7/3264 0%
Bladder Carcinoma
0/58 0%
2/956 0%
Thyroid Gland Carcinoma
0/45 0%
3/1592 0%
Glioma
0/52 0%
4/2127 0%
Hepatocellular Carcinoma
0/46 0%
3/2210 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Other Solid Cancers
0/94 0%
2/1515 0%
Squamous Cell Lung Carcinoma
1/57 2%
0/810 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Prostate Carcinoma
0/13 0%
2/2105 0%
Ovarian Carcinoma
1/109 1%
0/998 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%

Mutation Distribution

Where AGR2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in AGR2 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 53 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 157 mutations in AGR2

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