KCNMA1 Potassium calcium-activated channel subfamily M alpha 1 Q12791 KCMA1_HUMAN
Protein Coding Chr 10 10q22.3 Swiss-Prot reviewed Entrez 3778
Mutations
27,233
CL 2,225 · Tissue 24,367
Samples
888
CL 154 · Tissue 712
Peptides
864
unique mutant peptides
Transcripts
39
isoforms mutated

Stats by Source

Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Global = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

GlobalCell lineTissue
Mutations27,2332,22524,367
Samples888154712
Peptides864153721

Function

KCNMA1 · Potassium calcium-activated channel subfamily M alpha 1

This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022].

Isoforms & Proteins

39 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
ENST00000286628 Q12791 882 569
ENST00000404771 Q5SVJ8* 819 557
ENST00000638759 Q12791-3 798 543
ENST00000638848 A0A1W2PRN5* 797 542
ENST00000457953 Q5SVJ9* 795 540
ENST00000639544 A0A1W2PR62* 795 540
ENST00000640523 A0A1W2PPX7* 795 541
ENST00000640182 A0A1W2PRB0* 794 540
ENST00000639090 A0A1W2PPY5* 792 538
ENST00000640605 A0A1W2PPZ1* 792 539
ENST00000372440 A0A0A0MRR0* 790 537
ENST00000638575 Q12791-7 785 534
ENST00000639591 A0A1W2PRV4* 785 533
ENST00000372443 Q5SVJ7* 784 531
ENST00000626620 Q12791-2 784 537
ENST00000638223 A0A1W2PR56* 782 530
ENST00000639406 B7ZMF5* 781 529
ENST00000639913 A0A1W2PRG5* 780 528
ENST00000638606 A0A1W2PQA0* 779 527
ENST00000434208 Q12791-4 778 528
ENST00000640969 Q12791-4 778 528
ENST00000638203 A0A1W2PNW6* 777 525
ENST00000638351 A0A1W2PNY9* 775 524
ENST00000639489 A0A1W2PQ61* 770 523
ENST00000286627 Q12791-5 769 522
ENST00000639486 A0A1W2PQK5* 768 521
ENST00000639601 A0A1W2PSD3* 768 521
ENST00000640141 A0A1W2PP94* 767 521
ENST00000638991 A0A1W2PNH9* 766 520
ENST00000640834 A0A1W2PQU4* 754 509
ENST00000638306 A0A1W2PNQ3* 753 508
ENST00000640807 D5MRH1* 748 506
ENST00000354353 A0A0A0MRC3* 626 466
ENST00000406533 J3KQ16* 622 461
ENST00000639120 A0A1W2PQR1* 375 244
ENST00000480683 Q12791-6 154 65
ENST00000618048 A0A087WZL8* 148 62
ENST00000481070 S4R453* 142 56
ENST00000640632 A0A1W2PS54* 86 71

Gene Properties

Type
Protein Coding
Chromosome
10
Cytoband
10q22.3
Entrez ID
Aliases
BKTMCADEDSIEG16KCa1.1LIWASMaxiK

Recurrent Mutations

Top recurrent amino-acid changes along the protein · needle height = number of mutations

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 Distribution

Where KCNMA1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KCNMA1 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 27,233 mutations in KCNMA1

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 CDSTypeSourcePeptide