ULBP3

UL16 binding protein 3

Basic information

Region (hg38): 6:150061053-150069121

Links

ENSG00000131019NCBI:79465OMIM:605699HGNC:14895Uniprot:Q9BZM4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ULBP3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ULBP3 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
0
missense
19
clinvar
2
clinvar
21
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 19 2 0

Variants in ULBP3

This is a list of pathogenic ClinVar variants found in the ULBP3 region.

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

Position Type Phenotype Significance ClinVar
6-150064672-T-C not specified Uncertain significance (May 26, 2024)3330914
6-150064701-A-G not specified Uncertain significance (Feb 22, 2023)2455433
6-150065446-A-C not specified Uncertain significance (Dec 04, 2024)3465805
6-150065447-G-C not specified Uncertain significance (Dec 04, 2024)3465804
6-150065524-G-A not specified Uncertain significance (Jul 05, 2024)3465799
6-150065556-C-T not specified Uncertain significance (Jun 16, 2023)2604432
6-150065577-A-T not specified Uncertain significance (Dec 15, 2023)3186315
6-150065587-G-A not specified Uncertain significance (Sep 01, 2021)2231495
6-150065617-G-A not specified Uncertain significance (Apr 05, 2023)2518152
6-150065620-T-G not specified Uncertain significance (Sep 24, 2024)3465802
6-150065629-C-T not specified Uncertain significance (May 25, 2023)2509772
6-150065658-T-C not specified Uncertain significance (Feb 21, 2024)2402408
6-150065916-T-A not specified Uncertain significance (Apr 19, 2023)2511796
6-150065985-C-T not specified Likely benign (Sep 16, 2021)2369006
6-150065991-G-A not specified Uncertain significance (Oct 21, 2024)3465803
6-150065998-T-A not specified Uncertain significance (Sep 13, 2023)2623634
6-150066001-C-T not specified Uncertain significance (Dec 19, 2023)3186314
6-150066019-G-T not specified Uncertain significance (Oct 13, 2023)3186313
6-150066030-G-T not specified Uncertain significance (Oct 01, 2024)3465800
6-150068990-G-A not specified Uncertain significance (Jun 28, 2022)2252175
6-150069035-G-A not specified Likely benign (Dec 20, 2022)2343249

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ULBP3protein_codingprotein_codingENST00000367339 45946
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
4.74e-110.0157125726031257290.0000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4391481341.110.000006761607
Missense in Polyphen3133.5750.92332487
Synonymous0.02935252.30.9950.00000270466
Loss of Function-0.8921410.81.294.70e-7126

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00002690.0000264
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity. {ECO:0000269|PubMed:11491531, ECO:0000269|PubMed:11754823, ECO:0000269|PubMed:11777960}.;
Pathway
Natural killer cell mediated cytotoxicity - Homo sapiens (human);Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Intolerance Scores

loftool
0.837
rvis_EVS
0.69
rvis_percentile_EVS
85.1

Haploinsufficiency Scores

pHI
0.0515
hipred
N
hipred_score
0.139
ghis
0.429

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.0631

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
9230019H11Rik
Phenotype

Gene ontology

Biological process
T cell mediated cytotoxicity;immune response;viral process;natural killer cell activation;natural killer cell mediated cytotoxicity;susceptibility to natural killer cell mediated cytotoxicity;regulation of immune response
Cellular component
extracellular space;plasma membrane;external side of plasma membrane;anchored component of plasma membrane
Molecular function
protein binding;natural killer cell lectin-like receptor binding