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KIR2DS4

Synonyms
CD158I, KIR-2DS4, KIR1D, KIR412, KKA3, NKAT-8, NKAT8
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
7,447
Likely pathogenic
1
VUS
88,182
Likely benign
1,173
Benign
0

Patient phenotypes

Proportions of phenotypes among 2527 patients carring pathogenic or likely pathogenic variants on KIR2DS4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.6%
Abnormality of the musculoskeletal system
30.6%
Abnormality of the eye
28.3%
Abnormality of head or neck
24.4%
Abnormality of the cardiovascular system
23.9%
Abnormality of the ear
14.9%
Growth abnormality
14%
Abnormality of the integument
13.9%
Abnormality of limbs
13%
Abnormality of the genitourinary system
12.6%
Abnormality of the digestive system
10%
Abnormality of the immune system
8%
Abnormality of the endocrine system
5.1%
Abnormality of the respiratory system
4.6%
Neoplasm
4.3%
Abnormality of blood and blood-forming tissues
4.2%
Abnormality of prenatal development or birth
3%
Constitutional symptom
1.5%
Abnormal cellular phenotype
1%
Abnormality of the breast
0.8%
Abnormality of the voice
0.8%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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