LPAR6 (lysophosphatidic acid receptor 6)

Gene

• Entrez ID: 10161
• Gene name: Lysophosphatidic acid receptor 6
• Gene symbol: LPAR6
• Synonyms (NCBI Gene): ARWH1, HYPT8, LAH3, LPA-6, P2RY5, P2Y5
• Chromosome: 13
• Chromosome location: 13q14.2
• Summary: 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 revers

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT736565	hsa-miR-595	Western blotting, Microarray, qRT-PCR	22101077
MIRT1115496	hsa-miR-1252	CLIP-seq
MIRT1115497	hsa-miR-128	CLIP-seq
MIRT1115498	hsa-miR-27a	CLIP-seq
MIRT1115499	hsa-miR-27b	CLIP-seq
MIRT1115500	hsa-miR-5096	CLIP-seq
MIRT1115501	hsa-miR-513a-5p	CLIP-seq
MIRT1115497	hsa-miR-128	CLIP-seq
MIRT1115498	hsa-miR-27a	CLIP-seq
MIRT1115499	hsa-miR-27b	CLIP-seq
MIRT1115500	hsa-miR-5096	CLIP-seq
MIRT1115501	hsa-miR-513a-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001835	Process	Blastocyst hatching	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18297070
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0070915	Function	Lysophosphatidic acid receptor activity	IBA

Other IDs

• MIM: 609239
• HGNC: 15520
• e!Ensembl: ENSG00000139679

Protein

• UniProt ID: P43657
• Protein name: Lysophosphatidic acid receptor 6 (LPA receptor 6) (LPA-6) (Oleoyl-L-alpha-lysophosphatidic acid receptor) (P2Y purinoceptor 5) (P2Y5) (Purinergic receptor 5) (RB intron encoded G-protein coupled receptor)
• Protein 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.
• PDB: 9ITB, 9ITE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	34 → 291	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed ubiquitously, including in skin and hair follicle cells. Detected in both Henle's and Huxley's layers of the inner root sheath of the hair follicle and in suprabasal layers of the epidermis (at protein level). Expressed at lo
• Sequence:

  MVSVNSSHCFYNDSFKYTLYGCMFSMVFVLGLISNCVAIYIFICVLKVRNETTTYMINLA
  MSDLLFVFTLPFRIFYFTTRNWPFGDLLCKISVMLFYTNMYGSILFLTCISVDRFLAIVY
  PFKSKTLRTKRNAKIVCTGVWLTVIGGSAPAVFVQSTHSQGNNASEACFENFPEATWKTY
  LSRIVIFIEIVGFFIPLILNVTCSSMVLKTLTKPVTLSRSKINKTKVLKMIFVHLIIFCF
  CFVPYNINLILYSLVRTQTFVNCSVVAAVRTMYPITLCIAVSNCCFDPIVYYFTSDTIQN
  SIKMKNWSVRRSDFRFSEVHGAENFIQHNLQTLKSKIFDNESAA

• Sequence length: 344

Pathways

KEGG:

Phospholipase D signaling pathway
Neuroactive ligand-receptor interaction
PI3K-Akt signaling pathway
Pathways in cancer

Reactome:

G alpha (q) signalling events
P2Y receptors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hypotrichosis 8	Pathogenic; Likely pathogenic	rs2138204557, rs121434306, rs121434307, rs121434308, rs121434309, rs2542261609, rs879255262, rs2542256275, rs2542255397, rs1948803416, rs759807882, rs2542254523, rs1566212378	RCV002250094 RCV000001898 RCV003234534 RCV000001902 RCV000001903 RCV002465046 RCV000239380 RCV003234610 RCV003234611 RCV003234612 RCV003237403 RCV004585197 RCV000723282	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wooly hair, autosomal recessive 1, with or without hypotrichosis	Likely pathogenic; Pathogenic	rs121434307	RCV000001901	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HYPOTRICHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS SIMPLEX	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LPAR6-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	BEFREE	19292720, 21426374, 26148547		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18475256		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17047088, 30694446		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17047088, 37372960	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34510318	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18475256	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27583415, 29211777, 31236404	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18475256		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29211777	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	18692127, 19292720, 19365138, 19529952, 21352330, 22385360, 22621192, 25119526, 31077348		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19253308		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19253308	Associate	★☆☆☆☆ Found in Text Mining only
Hair Diseases	Hair Diseases	BEFREE	18803659		★☆☆☆☆ Found in Text Mining only
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	BEFREE	20213768		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	LHGDN	18297070, 18461368, 18692127, 18830268, 19061667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	BEFREE	18692127, 19292720, 19365138, 19529952, 21352330, 22385360, 22621192, 25119526, 31077348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	Pubtator	18803659, 19365138, 22385360, 25119526	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS 8	Hypotrichosis	UNIPROT_DG	18297070, 18297072		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTRICHOSIS 8	Hypotrichosis	BEFREE	18461368		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTRICHOSIS 8	Hypotrichosis	GENOMICS_ENGLAND_DG	18461368		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTRICHOSIS 8	Hypotrichosis	CLINVAR_DG	18461368, 25119526		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypotrichosis simplex	Hypotrichosis simplex	CTD_human_DG	18297070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	ORPHANET_DG	18461368		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	BEFREE	19529952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19253308	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23182454, 25589345, 31236404		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23182454		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	25640674		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34769557	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17047088, 30694446		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18475256		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17702869, 30694446		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	27583415	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17702869, 18475256, 25589345, 30694446		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17047088	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29211777	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Total Hypotrichosis, Mari type	Hypotrichosis	BEFREE	17594396, 18445047, 18461368, 18692127, 19167195, 19292720, 19529952, 20213768, 21070332, 22531990		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19253308		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18475256	Stimulate	★☆☆☆☆ Found in Text Mining only
Woolly Hair Autosomal Recessive	Woolly hair	Pubtator	18803659, 22385360, 22592156	Associate	★☆☆☆☆ Found in Text Mining only
Woolly hair congenital	Woolly hair	Pubtator	18803659, 19365138, 22385360	Associate	★☆☆☆☆ Found in Text Mining only
Woolly Hair, Autosomal Recessive	Woolly hair	BEFREE	19365138, 21352330, 22385360, 23590372, 25828854, 28425126, 29346610		★☆☆☆☆ Found in Text Mining only
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS	WOOLLY HAIR, WITH OR WITHOUT HYPOTRICHOSIS	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Woolly hair, congenital	Woolly hair	ORPHANET_DG	21426374		★☆☆☆☆ Found in Text Mining only