LPAR6

Chr 13AR

lysophosphatidic acid receptor 6

Also known as: ARWH1, HYPT8, LAH3, LPA-6, P2RY5, P2Y5

NCBI Gene: 10161ENSG00000139679UniProt: P43657

The LPAR6 protein is a G-protein coupled receptor that binds lysophosphatidic acid and is important for maintaining hair growth and texture through cAMP signaling pathways. Mutations cause autosomal recessive hypotrichosis and woolly hair disorders characterized by sparse, abnormally textured hair that is typically apparent from birth or early childhood. These conditions primarily affect hair follicle development and maintenance without significant involvement of other organ systems.

Summary from RefSeq, OMIM, UniProt
Research Assistant →

Primary Disease Associations & Inheritance

Hypotrichosis 8MIM #278150
AR
Woolly hair, autosomal recessive 1, with or without hypotrichosisMIM #278150
AR
UniProtWoolly hair autosomal recessive 1 with or without hypotrichosis
0
Active trials
10
Pubs (1 yr)
113
P/LP submissions
9%
P/LP missense
1.27
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— LPAR6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
95 unique Pathogenic / Likely Pathogenic· 50 VUS of 187 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.27LOEUF
pLI 0.001
Z-score 1.01
OE 0.64 (0.35–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.11Z-score
OE missense 0.98 (0.86–1.11)
174 obs / 178.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.64 (0.35–1.27)
0≤0.351.4
Missense OE0.98 (0.86–1.11)
0≤0.61.4
Synonymous OE0.88
0≤1.21.6
LoF obs/exp: 6 / 9.3Missense obs/exp: 174 / 178.3Syn Z: 0.73
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongLPAR6-related hypotrichosis/woolly hair with or without hypotrichosisOTHERAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.79top 25%
GOF
0.82top 10%
LOF
0.2288th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

187 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic79
Likely Pathogenic16
VUS50
Likely Benign27
Benign11
Conflicting2
79
Pathogenic
16
Likely Pathogenic
50
VUS
27
Likely Benign
11
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
1
76
0
79
Likely Pathogenic
5
8
3
0
16
VUS
1
44
5
0
50
Likely Benign
1
5
4
17
27
Benign
4
3
4
0
11
Conflicting
—2
Total13619217185

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

LPAR6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Lysophosphatidic acid promotes endometrial decidualization in recurrent implantation failure patients by regulating LPAR6.
Wang S et al.·Front Cell Dev Biol
2025Open AccessCohort
LPAR6 Inhibits the Progression of Hepatocellular Carcinoma (HCC) by Suppressing the Nuclear Translocation of YAP/TAZ.
Bao G et al.·Int J Mol Sci
2025Open Access
Molecular mechanism of ligand recognition and activation of lysophosphatidic acid receptor LPAR6.
Duan Y et al.·Proc Natl Acad Sci U S A
2025Open AccessFunctional
Familial 46, XY Disorder of Sexual Development identified in a Ph+BCR::ABL1P210+ Acute Lymphoblastic Leukemia septuagenarian female with RCBTB2::LPAR6 fusion gene: a case report.
Wang L et al.·Front Oncol
2024Open AccessCase report
Loss of LPAR6 and CAB39L dysregulates the basal-to-luminal urothelial differentiation program, contributing to bladder carcinogenesis.
Lee S et al.·Cell Rep
2024Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients