LPAR6

Chr 13

lysophosphatidic acid receptor 6

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

The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtWoolly hair autosomal recessive 1 with or without hypotrichosis
UniProtHypotrichosis 8
0
Active trials
14
Pubs (1 yr)
P/LP submissions
P/LP missense
1.27
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.27LOEUF
pLI 0.001
Z-score 1.01
OE 0.64 (0.351.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.98 (0.861.11)
174 obs / 178.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.351.27)
00.351.4
Missense OE?0.98 (0.861.11)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 6 / 9.3Missense obs/exp: 174 / 178.3Syn Z: 0.73

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →