KIR3DL1

killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1, the group of CD molecules|Killer cell immunoglobulin like receptors

Basic information

Region (hg38): 19:54816468-54830778

Previous symbols: [ "KIR" ]

Links

ENSG00000167633NCBI:3811OMIM:604946HGNC:6338Uniprot:P43629AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIR3DL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIR3DL1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
35
clinvar
6
clinvar
41
nonsense
0
start loss
0
frameshift
1
clinvar
1
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 35 8 0

Variants in KIR3DL1

This is a list of pathogenic ClinVar variants found in the KIR3DL1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
19-54817565-C-A not specified Uncertain significance (Dec 16, 2021)2391889
19-54818330-C-G not specified Uncertain significance (Sep 06, 2022)3115100
19-54818344-T-C not specified Uncertain significance (Jan 12, 2024)2205880
19-54818353-G-A not specified Uncertain significance (Jan 12, 2024)3115091
19-54818366-G-A not specified Likely benign (Feb 02, 2022)2226341
19-54818377-G-A not specified Uncertain significance (Aug 17, 2022)2308692
19-54818402-A-G not specified Uncertain significance (Oct 20, 2023)3115093
19-54818489-T-C not specified Uncertain significance (Aug 11, 2022)2211628
19-54818540-A-G not specified Uncertain significance (Dec 15, 2022)2264963
19-54818552-C-T not specified Uncertain significance (Apr 07, 2023)2569817
19-54818581-G-A Keratoconus Uncertain significance (Apr 01, 2023)2498239
19-54819767-G-A not specified Uncertain significance (May 14, 2024)2350461
19-54819802-A-G not specified Likely benign (Dec 14, 2022)3115094
19-54819832-G-T Keratoconus Uncertain significance (Apr 01, 2023)2498240
19-54819842-AG-A Likely benign (Dec 01, 2023)2650483
19-54819844-G-A Likely benign (Jul 01, 2022)2650484
19-54819859-G-T not specified Uncertain significance (Oct 10, 2023)3115095
19-54819893-A-G not specified Uncertain significance (Nov 15, 2021)2363906
19-54819904-G-A not specified Uncertain significance (Mar 06, 2023)2494097
19-54819911-T-A not specified Uncertain significance (Aug 02, 2023)2615372
19-54819929-G-A not specified Uncertain significance (Mar 12, 2024)3115096
19-54819962-C-T not specified Uncertain significance (Sep 28, 2022)2314301
19-54819970-C-G not specified Uncertain significance (Oct 18, 2021)2255539
19-54819972-G-C not specified Uncertain significance (Jan 24, 2024)3115097
19-54821573-G-A not specified Uncertain significance (Dec 03, 2021)2263318

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KIR3DL1protein_codingprotein_codingENST00000391728 9142480
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
8.36e-140.00517118152361371183250.000731
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.622992301.300.00001262840
Missense in Polyphen4038.7081.0334514
Synonymous-1.4610789.51.200.00000521874
Loss of Function-0.8571814.51.246.77e-7209

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002270.00205
Ashkenazi Jewish0.000.00
East Asian0.0009680.000737
Finnish0.00009970.0000992
European (Non-Finnish)0.001160.000996
Middle Eastern0.0009680.000737
South Asian0.0002240.000149
Other0.0003560.000345

dbNSFP

Source: dbNSFP

Function
FUNCTION: Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis. {ECO:0000269|PubMed:22020283}.;
Pathway
Antigen processing and presentation - Homo sapiens (human);Graft-versus-host disease - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;Validated targets of C-MYC transcriptional activation (Consensus)

Intolerance Scores

loftool
0.972
rvis_EVS
3.34
rvis_percentile_EVS
99.43

Haploinsufficiency Scores

pHI
0.0581
hipred
N
hipred_score
0.165
ghis
0.441

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0389

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kir3dl2
Phenotype

Gene ontology

Biological process
immune response;natural killer cell mediated cytotoxicity;regulation of immune response
Cellular component
plasma membrane;integral component of plasma membrane
Molecular function
amyloid-beta binding;protein binding;HLA-B specific inhibitory MHC class I receptor activity