• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LPAR6 (HGNC:15520) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lysophosphatidic acid receptor 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
P2RY5
Alias symbols
P2Y5
%HI
22.74(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.12(Read more about gnomAD LOEUF score)
Cytoband
13q14.2
Genomic Coordinates
GRCh37/hg19: chr13:48985274-49018805 NCBI Ensembl UCSC
GRCh38/hg38: chr13:48389571-48444669 NCBI Ensembl UCSC
MANE Select Transcript
NM_001162498.3 ENST00000620633.5 (Read more about MANE Select)
Function
Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture. {ECO:0000269|PubMed:18297070}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19176
ClinGen Curation ID:
CCID:007414
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000013.10) (NC_000013.11)