LTB4R

leukotriene B4 receptor, the group of Leukotriene receptors

Basic information

Region (hg38): 14:24311449-24318036

Previous symbols: [ "P2RY7", "GPR16", "CMKRL1" ]

Links

ENSG00000213903 ∙ NCBI:1241 ∙ OMIM:601531 ∙ HGNC:6713 ∙ Uniprot:Q15722 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the LTB4R gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LTB4R 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	1
missense			14		1	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5			5
Total	0	0	19	0	2

Variants in LTB4R

This is a list of pathogenic ClinVar variants found in the LTB4R region.

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

Position	Type	Phenotype	Significance	ClinVar
14-24311511-G-T		not specified	Uncertain significance (Feb 22, 2023)
14-24311580-C-T		not specified	Uncertain significance (Dec 03, 2021)
14-24311653-C-A		not specified	Uncertain significance (Aug 08, 2022)
14-24311656-C-T		not specified	Uncertain significance (Jan 08, 2024)
14-24311689-A-G		not specified	Uncertain significance (May 10, 2024)
14-24311721-G-C		not specified	Uncertain significance (Apr 19, 2023)
14-24315668-C-T		not specified	Uncertain significance (Dec 06, 2023)
14-24315785-A-C		not specified	Uncertain significance (Jun 05, 2023)
14-24315817-A-T		not specified	Likely benign (Jun 17, 2024)
14-24315857-T-G		not specified	Uncertain significance (Apr 29, 2024)
14-24315886-G-T			Benign (Dec 09, 2017)
14-24315889-C-G		not specified	Uncertain significance (Dec 08, 2023)
14-24315985-A-G		not specified	Uncertain significance (Mar 25, 2022)
14-24316005-G-A			Benign (Mar 29, 2018)
14-24316048-A-C		not specified	Uncertain significance (Feb 17, 2024)
14-24316262-T-C		not specified	Uncertain significance (Jan 24, 2024)
14-24316292-G-A		not specified	Uncertain significance (Jan 22, 2024)
14-24316327-A-G		not specified	Uncertain significance (Dec 01, 2022)
14-24316330-A-G		not specified	Uncertain significance (Dec 22, 2023)
14-24316339-T-C		not specified	Uncertain significance (Nov 03, 2023)
14-24316486-A-C		not specified	Uncertain significance (Mar 07, 2024)
14-24316543-G-T		not specified	Uncertain significance (Aug 26, 2022)
14-24316624-G-C		not specified	Uncertain significance (Jan 23, 2024)
14-24316640-C-A		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LTB4R	protein_coding	protein_coding	ENST00000396789	1	6587

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.120	0.788	125740	0	7	125747	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.60	151	217	0.695	0.0000149	2167
Missense in Polyphen		46	84.106	0.54693		882
Synonymous	0.585	94	102	0.926	0.00000694	844
Loss of Function	1.34	2	5.34	0.375	2.29e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for extracellular ATP > UTP and ADP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. May be the cardiac P2Y receptor involved in the regulation of cardiac muscle contraction through modulation of L-type calcium currents. Is a receptor for leukotriene B4, a potent chemoattractant involved in inflammation and immune response.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);Leukotriene modifiers pathway, Pharmacodynamics;Spinal Cord Injury;GPCRs, Class A Rhodopsin-like;Nucleotide GPCRs;Signaling by GPCR;Signal Transduction;Eicosanoid ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Leukotriene receptors;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.0929

Haploinsufficiency Scores

• pHI: 0.0753
• hipred: N
• hipred_score: 0.312
• ghis: 0.467

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.650

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ltb4r1
• Phenotype: cellular phenotype; immune system phenotype; homeostasis/metabolism phenotype; skeleton phenotype; respiratory system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: ltb4r
• Affected structure: epiboly involved in gastrulation with mouth forming second
• Phenotype tag: abnormal
• Phenotype quality: delayed

Gene ontology

• Biological process: muscle contraction;inflammatory response;immune response;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;leukotriene signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane;membrane raft
• Molecular function: nucleotide binding;leukotriene B4 receptor activity;galanin receptor activity;leukotriene receptor activity;G protein-coupled peptide receptor activity