LPAR6 |
- 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:
- hypotrichosis 8 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000013.10)
(NC_000013.11)