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KIR2DL3

Synonyms
CD158B2, CD158b, GL183, KIR-023GB, KIR-K7b, KIR-K7c, KIR2DL, KIR2DS5, KIRCL23, NKAT, NKAT2, NKAT2A, NKAT2B, p58
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.

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
130
Likely pathogenic
0
VUS
270,770
Likely benign
28,882
Benign
0

Patient Phenotypes

Proportions of phenotypes among 130 patients carrying pathogenic or likely pathogenic variants on KIR2DL3 gene are displayed below. The following symptoms were found in patients with a variant in KIR2DL3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.8%
Abnormality of the cardiovascular system
24.6%
Abnormality of the musculoskeletal system
22.3%
Abnormality of head or neck
20%
Abnormality of the eye
18.5%
Abnormality of the ear
16.9%
Growth abnormality
11.5%
Abnormality of the genitourinary system
7.7%
Abnormality of the integument
7.7%
Abnormality of metabolism homeostasis
6.9%
Abnormality of limbs
6.2%
Abnormality of the digestive system
6.2%
Abnormality of the immune system
4.6%
Neoplasm
4.6%
Abnormality of blood and blood forming tissues
3.1%
Abnormality of the respiratory system
3.1%
Abnormality of prenatal development or birth
2.3%
Abnormality of the endocrine system
2.3%
Constitutional symptom
2.3%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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