KCNJ12

Potassium inwardly rectifying channel subfamily J member 12 Q14500 KCJ12_HUMAN
Protein Coding Chr 17 17p11.2 Swiss-Prot reviewed Entrez 3768
Mutations
2,408
CL 232 · Tissue 2,154
Samples
878
CL 113 · Tissue 753
Peptides
436
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
Mutations2,4082322,154
Samples878113753
Peptides43679376

Function

KCNJ12 · Potassium inwardly rectifying channel subfamily J member 12

This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [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
ENST00000583088 Q14500 1,214 436
ENST00000331718 Q14500 1,194 426

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17p11.2
Entrez ID
Aliases
IRK-2IRK2KCNJN1Kir2.2hIRKhIRK1

Recurrent Mutations

All 436 amino-acid changes on canonical ENST00000583088 · 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 KCNJ12 · 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 KCNJ12 – 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
Non-Small Cell Lung Carcinoma
26/304 9%
60/1390 4%
Endometrial Carcinoma
3/42 7%
30/612 5%
Acute Myeloid Leukemia
4/90 4%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Colorectal Carcinoma
17/143 12%
103/3239 3%
Thyroid Gland Carcinoma
0/45 0%
51/1592 3%
Other Solid Cancers
1/94 1%
47/1515 3%
Melanoma
8/210 4%
54/1899 3%
Squamous Cell Lung Carcinoma
5/57 9%
20/810 2%
Germ Cell Tumour
1/25 4%
4/169 2%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Gastric Carcinoma
2/74 3%
45/1809 2%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Esophageal Carcinoma
1/23 4%
18/769 2%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Hodgkins Lymphoma
1/16 6%
2/122 2%
Glioblastoma
2/98 2%
0/0 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
46/2550 2%
Other Sarcomas
2/69 3%
12/699 2%
Bladder Carcinoma
0/58 0%
18/956 2%
Burkitts Lymphoma
4/32 12%
0/196 0%
Small Cell Lung Carcinoma
0/9 0%
13/752 2%
Neuroendocrine Tumour
5/154 3%
6/577 1%
Head and Neck Carcinoma
1/85 1%
22/1574 1%
Cervical Carcinoma
0/35 0%
6/422 1%
Hepatocellular Carcinoma
1/46 2%
28/2210 1%
Biliary Tract Carcinoma
0/54 0%
12/950 1%
Ovarian Carcinoma
2/109 2%
11/998 1%
Plasma Cell Myeloma
1/44 2%
3/305 1%

Mutation Distribution

Where KCNJ12 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KCNJ12 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 2,408 mutations in KCNJ12

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