LPAR5

lysophosphatidic acid receptor 5, the group of Lysophosphatidic acid receptors

Basic information

Region (hg38): 12:6618835-6635960

Previous symbols: [ "GPR93", "GPR92" ]

Links

ENSG00000184574

∙ NCBI:57121 ∙ OMIM:606926 ∙ HGNC:13307 ∙ Uniprot:Q9H1C0 ∙ 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 LPAR5 gene.

not_specified (55 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LPAR5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020400.6. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			55 clinvar			55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LPAR5	protein_coding	protein_coding	ENST00000329858	1	17613

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0514	0.869	125136	0	29	125165	0.000116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.18	191	243	0.787	0.0000175	2279
Missense in Polyphen		67	80.337	0.83398		864
Synonymous	1.32	108	127	0.851	0.00000966	875
Loss of Function	1.46	3	7.22	0.416	4.23e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000644	0.0000618
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.000102	0.0000935
European (Non-Finnish)	0.000166	0.000159
Middle Eastern	0.000110	0.000109
South Asian	0.000132	0.000131
Other	0.000380	0.000327

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities.;
Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Lysosphingolipid and LPA receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.105

Haploinsufficiency Scores

pHI: 0.0927
hipred: N
hipred_score: 0.272
ghis: 0.511

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.359

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Lpar5
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);

Gene ontology

Biological process: G protein-coupled receptor signaling pathway;biological_process
Cellular component: cellular_component;plasma membrane;integral component of membrane
Molecular function: molecular_function;G protein-coupled receptor activity