LTB4R2

leukotriene B4 receptor 2, the group of Leukotriene receptors

Basic information

Region (hg38): 14:24305733-24312053

Links

ENSG00000213906 ∙ NCBI:56413 ∙ OMIM:605773 ∙ HGNC:19260 ∙ Uniprot:Q9NPC1 ∙ 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 LTB4R2 gene.

• Inborn genetic diseases (27 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LTB4R2 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			27		1	28
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	0	3

Variants in LTB4R2

This is a list of pathogenic ClinVar variants found in the LTB4R2 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-24305953-A-G		not specified	Uncertain significance (Mar 29, 2022)
14-24306043-C-T		not specified	Uncertain significance (Jan 16, 2024)
14-24306522-G-T		not specified	Uncertain significance (Aug 19, 2023)
14-24307384-T-C		not specified	Uncertain significance (Apr 22, 2022)
14-24307385-C-T		not specified	Uncertain significance (Oct 22, 2021)
14-24307414-C-T		not specified	Uncertain significance (Aug 12, 2021)
14-24307415-G-A		not specified	Uncertain significance (Aug 02, 2021)
14-24307441-C-T		not specified	Uncertain significance (Oct 26, 2022)
14-24307442-G-A		not specified	Uncertain significance (May 01, 2022)
14-24307448-G-T		not specified	Uncertain significance (Jan 16, 2024)
14-24307483-C-T		not specified	Uncertain significance (Feb 06, 2024)
14-24307489-A-G		not specified	Uncertain significance (Oct 05, 2023)
14-24310712-G-C		not specified	Uncertain significance (Nov 18, 2022)
14-24310729-C-T		not specified	Uncertain significance (Dec 07, 2021)
14-24310771-C-T		not specified	Uncertain significance (Mar 20, 2023)
14-24310789-T-C		not specified	Uncertain significance (Dec 27, 2022)
14-24310819-G-A		not specified	Uncertain significance (Jul 05, 2023)
14-24310840-C-A		not specified	Uncertain significance (Sep 26, 2023)
14-24310858-C-T		not specified	Uncertain significance (Nov 08, 2021)
14-24310873-C-T		not specified	Uncertain significance (Feb 16, 2023)
14-24310912-C-T		not specified	Uncertain significance (Mar 06, 2023)
14-24310930-T-G		not specified	Uncertain significance (Dec 02, 2021)
14-24310968-G-A		not specified	Uncertain significance (Apr 07, 2023)
14-24311001-G-T		not specified	Uncertain significance (Apr 07, 2023)
14-24311002-G-C		not specified	Uncertain significance (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LTB4R2	protein_coding	protein_coding	ENST00000543919	1	6320

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000439	0.671	125097	4	534	125635	0.00214

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.296	252	239	1.05	0.0000161	2144
Missense in Polyphen		115	109.56	1.0497		1069
Synonymous	-0.524	128	121	1.06	0.00000865	871
Loss of Function	0.767	6	8.40	0.714	5.00e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00166	0.00160
Ashkenazi Jewish	0.00174	0.00169
East Asian	0.0141	0.0134
Finnish	0.000495	0.000416
European (Non-Finnish)	0.00183	0.00170
Middle Eastern	0.0141	0.0134
South Asian	0.000602	0.000555
Other	0.00206	0.00196

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Low-affinity receptor for leukotrienes including leukotriene B4. Mediates chemotaxis of granulocytes and macrophages. The response is mediated via G-proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTB4 > 12-epi-LTB4 > LTB5 > LTB3.
• Pathway: Calcium signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;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)

Intolerance Scores

• loftool: 0.723
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.38

Haploinsufficiency Scores

• pHI: 0.165
• hipred: N
• hipred_score: 0.238
• ghis: 0.498

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.657

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ltb4r2
• Phenotype: immune system phenotype; skeleton phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: chemotaxis;inflammatory response;G protein-coupled receptor signaling pathway;negative regulation of adenylate cyclase activity;neuropeptide signaling pathway;keratinocyte migration;leukotriene signaling pathway
• Cellular component: nucleoplasm;plasma membrane;integral component of plasma membrane;membrane
• Molecular function: leukotriene B4 receptor activity;galanin receptor activity;leukotriene receptor activity;G protein-coupled peptide receptor activity