KCNJ3

Potassium inwardly rectifying channel subfamily J member 3 P48549 KCNJ3_HUMAN
Protein Coding Chr 2 2q24.1 Swiss-Prot reviewed Entrez 3760
Mutations
888
CL 149 · Tissue 734
Samples
625
CL 123 · Tissue 499
Peptides
434
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
Mutations888149734
Samples625123499
Peptides43476378

Function

KCNJ3 · Potassium inwardly rectifying channel subfamily J member 3

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012].

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
ENST00000295101 P48549 660 427
ENST00000544049 P48549-2 228 172

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q24.1
Entrez ID
Aliases
GIRK1KGAKIR3.1

Recurrent Mutations

All 427 amino-acid changes on canonical ENST00000295101 · 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 KCNJ3 · 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 KCNJ3 – 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
Chronic Myelogenous Leukemia
4/25 16%
0/0 0%
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Melanoma
14/210 7%
96/1899 5%
Endometrial Carcinoma
4/42 10%
28/612 5%
Squamous Cell Lung Carcinoma
7/57 12%
33/810 4%
Non-Small Cell Lung Carcinoma
30/304 10%
45/1390 3%
Glioblastoma
4/98 4%
0/0 0%
Small Cell Lung Carcinoma
2/9 22%
24/752 3%
Other Solid Cancers
2/94 2%
44/1515 3%
Colorectal Carcinoma
11/143 8%
51/3239 2%
Adrenocortical Carcinoma
0/3 0%
2/112 2%
Gastric Carcinoma
5/74 7%
27/1809 1%
Neuroendocrine Tumour
9/154 6%
3/577 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
40/2550 2%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Chondrosarcoma
1/14 7%
0/75 0%
Head and Neck Carcinoma
2/85 2%
14/1574 1%
Other Sarcomas
2/69 3%
5/699 1%
Mesothelioma
1/62 2%
1/165 1%
Ovarian Carcinoma
5/109 5%
4/998 0%
Hepatocellular Carcinoma
0/46 0%
13/2210 1%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Prostate Carcinoma
0/13 0%
11/2105 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Pancreatic Carcinoma
6/89 7%
2/1611 0%
Glioma
0/52 0%
10/2127 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Meningioma
0/3 0%
1/252 0%
Bladder Carcinoma
0/58 0%
4/956 0%

Mutation Distribution

Where KCNJ3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KCNJ3 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 888 mutations in KCNJ3

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