PITPNM2

Phosphatidylinositol transfer protein membrane associated 2 Q9BZ72 PITM2_HUMAN
Protein Coding Chr 12 12q24.31 Swiss-Prot reviewed Entrez 57605
Mutations
1,544
CL 225 · Tissue 1,295
Samples
653
CL 133 · Tissue 509
Peptides
536
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
Mutations1,5442251,295
Samples653133509
Peptides536101443

Function

PITPNM2 · Phosphatidylinositol transfer protein membrane associated 2

PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008].

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
ENST00000320201 Q9BZ72 720 489
ENST00000280562 Q9BZ72-2 615 440
ENST00000546049 S4R414* 209 148

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q24.31
Entrez ID
Aliases
NIR-3NIR3RDGB2RDGBA2

Recurrent Mutations

All 489 amino-acid changes on canonical ENST00000320201 · 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 PITPNM2 · 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 PITPNM2 – 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
7/40 18%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Endometrial Carcinoma
10/42 24%
27/612 4%
Melanoma
9/210 4%
80/1899 4%
Glioblastoma
3/98 3%
0/0 0%
Colorectal Carcinoma
19/143 13%
78/3239 2%
Neuroendocrine Tumour
8/154 5%
10/577 2%
Gastric Carcinoma
3/74 4%
41/1809 2%
Hodgkins Lymphoma
1/16 6%
2/122 2%
Other Solid Cancers
0/94 0%
34/1515 2%
Non-Small Cell Lung Carcinoma
18/304 6%
17/1390 1%
Thyroid Gland Carcinoma
2/45 4%
22/1592 1%
Osteosarcoma
2/45 4%
1/166 1%
Bladder Carcinoma
2/58 3%
12/956 1%
Squamous Cell Lung Carcinoma
1/57 2%
10/810 1%
Head and Neck Carcinoma
5/85 6%
16/1574 1%
Esophageal Squamous Cell Carcinoma
3/51 6%
29/2550 1%
Non-Cancerous
1/104 1%
10/830 1%
Other Sarcomas
4/69 6%
5/699 1%
Plasma Cell Myeloma
2/44 5%
2/305 1%
Esophageal Carcinoma
0/23 0%
9/769 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Hepatocellular Carcinoma
5/46 11%
20/2210 1%
Cervical Carcinoma
0/35 0%
5/422 1%
Small Cell Lung Carcinoma
0/9 0%
8/752 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Biliary Tract Carcinoma
1/54 2%
8/950 1%
Prostate Carcinoma
6/13 46%
11/2105 1%
Glioma
0/52 0%
15/2127 1%
Pancreatic Carcinoma
1/89 1%
9/1611 1%

Mutation Distribution

Where PITPNM2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PITPNM2 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 1,544 mutations in PITPNM2

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