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KIR3DL1

Synonyms
CD158E1, KIR, KIR2DL5B, KIR3DL1/S1, NKAT-3, NKAT3, NKB1, NKB1B
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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
20
VUS
195,866
Likely benign
107,165
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on KIR3DL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
60%
Abnormality of the musculoskeletal system
46.7%
Abnormality of the nervous system
46.7%
Abnormality of the integument
26.7%
Abnormality of limbs
20%
Abnormality of blood and blood-forming tissues
13.3%
Abnormality of the cardiovascular system
13.3%
Abnormality of the ear
13.3%
Abnormality of the respiratory system
13.3%
Growth abnormality
13.3%
Abnormality of the breast
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the eye
6.7%
Abnormality of the immune system
6.7%
Abnormality of the voice
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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