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KIR2DL4

Synonyms
CD158D, G9P, KIR-103AS, KIR-2DL4, KIR103, KIR103AS
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
9,145
Likely pathogenic
3
VUS
476,373
Likely benign
41,162
Benign
0

Patient Phenotypes

Proportions of phenotypes among 5666 patients carrying pathogenic or likely pathogenic variants on KIR2DL4 gene are displayed below. The following symptoms were found in patients with a variant in KIR2DL4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.3%
Abnormality of the musculoskeletal system
30.6%
Abnormality of the eye
26.9%
Abnormality of the cardiovascular system
24.5%
Abnormality of head or neck
24.1%
Abnormality of the ear
14.6%
Growth abnormality
14%
Abnormality of the integument
13.4%
Abnormality of limbs
12.4%
Abnormality of the genitourinary system
12.2%
Abnormality of metabolism homeostasis
10.2%
Abnormality of the digestive system
9.1%
Abnormality of the immune system
7.4%
Abnormality of the endocrine system
4.7%
Abnormality of the respiratory system
4.4%
Abnormality of blood and blood forming tissues
4.3%
Neoplasm
3.5%
Abnormality of prenatal development or birth
3.4%
Constitutional symptom
1.5%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.8%
Abnormality of the voice
0.5%
Abnormality of the thoracic cavity
0%

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