KIR2DL4
Killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Q99706-3 KI2L4_HUMANStats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 937 | 368 | 544 |
| Samples | 264 | 115 | 141 |
| Peptides | 216 | 86 | 137 |
Function
KIR2DL4 · Killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4
Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the 'framework' loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016].
Isoforms & Proteins
8 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000345540 | Q99706-3 | 268 | 162 |
| ENST00000357494 | Q99706-4 | 212 | 134 |
| ENST00000359085 | A0A0B4J1S6* | 164 | 109 |
| ENST00000396293 | Q99706-6 | 141 | 85 |
| ENST00000346587 | Q8N736* | 134 | 84 |
| ENST00000612573 | A0A0C4ZNX8* | 13 | 10 |
| ENST00000612660 | - | 4 | 3 |
| ENST00000613053 | A0A0C4ZNX8* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 162 amino-acid changes on canonical ENST00000345540 · needle height = samples · drag the mini-map to zoom
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 KIR2DL4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KIR2DL4 – 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 type | Cell lines | Tissue samples |
|---|---|---|
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Unknown | 1/10 10% | 1/29 3% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Rhabdomyosarcoma | 3/33 9% | 1/171 1% |
| Endometrial Carcinoma | 3/42 7% | 8/612 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Melanoma | 9/210 4% | 20/1899 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 10/810 1% |
| Neuroendocrine Tumour | 10/154 6% | 0/577 0% |
| Cervical Carcinoma | 4/35 11% | 1/422 0% |
| Ewings Sarcoma | 3/63 5% | 0/262 0% |
| Colorectal Carcinoma | 14/143 10% | 16/3239 0% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 10/1390 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Ovarian Carcinoma | 6/109 6% | 3/998 0% |
| Other Solid Cancers | 3/94 3% | 10/1515 1% |
| Breast Carcinoma | 15/144 10% | 7/3264 0% |
| Gastric Carcinoma | 0/74 0% | 11/1809 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Head and Neck Carcinoma | 2/85 2% | 6/1574 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 5/1592 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 5/2534 0% |
| Glioma | 2/52 4% | 3/2127 0% |
Mutation Distribution
Where KIR2DL4 is mutated · all tissues, split by cell line vs tissue
How many mutations in KIR2DL4 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 45 healthy tissues
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 937 mutations in KIR2DL4
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|