RETREG2

Reticulophagy regulator family member 2 Q8NC44 RETR2_HUMAN
Protein Coding Chr 2 2q35 Swiss-Prot reviewed Entrez 79137
Mutations
259
CL 56 · Tissue 198
Samples
243
CL 45 · Tissue 194
Peptides
177
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
Mutations25956198
Samples24345194
Peptides17733145

Function

RETREG2 · Reticulophagy regulator family member 2

Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000430297 Q8NC44 257 177
ENST00000458520 C9JIF3* 2 2

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q35
Entrez ID
Aliases
C2orf17FAM134AMAG-2

Recurrent Mutations

All 177 amino-acid changes on canonical ENST00000430297 · 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 RETREG2 · 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 RETREG2 – 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
2/40 5%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Bladder Carcinoma
0/58 0%
19/956 2%
Burkitts Lymphoma
2/32 6%
2/196 1%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Squamous Cell Lung Carcinoma
2/57 4%
11/810 1%
Endometrial Carcinoma
1/42 2%
8/612 1%
Other Solid Cancers
0/94 0%
21/1515 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Non-Small Cell Lung Carcinoma
9/304 3%
9/1390 1%
Melanoma
2/210 1%
20/1899 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Non-Cancerous
1/104 1%
7/830 1%
Gastric Carcinoma
2/74 3%
12/1809 1%
Thyroid Gland Carcinoma
0/45 0%
11/1592 1%
Colorectal Carcinoma
9/143 6%
12/3239 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
14/2550 1%
Neuroendocrine Tumour
0/154 0%
4/577 1%
Osteosarcoma
1/45 2%
0/166 0%
Mesothelioma
1/62 2%
0/165 0%
Biliary Tract Carcinoma
0/54 0%
4/950 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Glioma
2/52 4%
4/2127 0%
Prostate Carcinoma
0/13 0%
6/2105 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Other Sarcomas
0/69 0%
2/699 0%
Esophageal Carcinoma
1/23 4%
1/769 0%
Kidney Carcinoma
0/85 0%
4/1862 0%

Mutation Distribution

Where RETREG2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in RETREG2 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.

Mutations

All 259 mutations in RETREG2

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