LPAR6 Gene (Protein Coding)

Lysophosphatidic Acid Receptor 6

GC13M048389
GIFtS:
46
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] See more...

Aliases for LPAR6 Gene

Aliases for LPAR6 Gene

  • Lysophosphatidic Acid Receptor 6 2 3 4 5
  • P2Y5 2 3 4
  • Purinergic Receptor P2Y, G-Protein Coupled, 5 2 3
  • Oleoyl-L-Alpha-Lysophosphatidic Acid Receptor 3 4
  • RB Intron Encoded G-Protein Coupled Receptor 3 4
  • Purinergic Receptor 5 3 4
  • P2Y Purinoceptor 5 3 4
  • LPA Receptor 6 3 4
  • LPA-6 3 4
  • P2RY5 3 4
  • Purinergic Receptor P2Y G Protein-Coupled Protein 5 3
  • G-Protein Coupled Purinergic Receptor P2Y5 3
  • ARWH1 3
  • HYPT8 3
  • LPAR6 5
  • LAH3 3

External Ids for LPAR6 Gene

Previous HGNC Symbols for LPAR6 Gene

  • P2RY5

Previous GeneCards Identifiers for LPAR6 Gene

  • GC13M047885
  • GC13M048963
  • GC13M029777

Summaries for LPAR6 Gene

Entrez Gene Summary for LPAR6 Gene

  • 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]

GeneCards Summary for LPAR6 Gene

LPAR6 (Lysophosphatidic Acid Receptor 6) is a Protein Coding gene. Diseases associated with LPAR6 include Hypotrichosis 8 and Hypotrichosis Simplex. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity. An important paralog of this gene is LPAR4.

UniProtKB/Swiss-Prot Summary for LPAR6 Gene

  • 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.

Gene Wiki entry for LPAR6 Gene

Additional gene information for LPAR6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LPAR6 Gene

Genomics for LPAR6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LPAR6 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH13J048409 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.3 +33.4 33420 5.4 CEBPA KLF11 FEZF1 HOMEZ THAP11 FOXA2 SMAD4 SAP130 ETV4 RARA LPAR6 RB1 piR-38352-141 piR-41306-069 lnc-RCBTB2-2
GH13J048446 Enhancer 0.4 ENCODE 256 -2.0 -1986 1.3 JUND FOS CEBPB LPAR6 HSALNG0096985 HSALNG0096986 RCBTB2 RB1
GH13J048530 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.7 -88.0 -87968 3.7 BCLAF1 ZNF207 IKZF1 ZNF600 POLR2A ZNF10 NFIC ZIC2 ZBTB10 YY1 RCBTB2 ENSG00000274929 ENSG00000287599 lnc-CYSLTR2-3 LINC00462 RB1 LPAR6 lnc-RCBTB2-4
GH13J048230 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.4 +210.2 210211 7.7 ZNF207 ZNF600 ATF2 CEBPA ATF3 POLR2A YY1 NONO BCL11A CTCF HSALNG0096970 ITM2B NONHSAG013474.2 lnc-MED4-3 MED4 LPAR6 RB1 HSALNG0096971
GH13J048577 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.9 -134.4 -134411 2 BCLAF1 SP1 YY1 BCL11A CTCF ZNF592 TRIM22 IRF4 EZH2 EBF1 LINC00462 HSALNG0097005 piR-48759-079 RB1 RCBTB2 LPAR6 FNDC3A ITM2B LINC01077 CYSLTR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LPAR6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LPAR6

Genomic Locations for LPAR6 Gene

Latest Assembly
chr13:48,389,567-48,444,704
(GRCh38/hg38)
Size:
55,138 bases
Orientation:
Minus strand

Previous Assembly
chr13:48,985,274-49,018,805
(GRCh37/hg19 by Entrez Gene)
Size:
33,532 bases
Orientation:
Minus strand

chr13:48,963,707-49,018,840
(GRCh37/hg19 by Ensembl)
Size:
55,134 bases
Orientation:
Minus strand

Genomic View for LPAR6 Gene

Genes around LPAR6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LPAR6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LPAR6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LPAR6 Gene

Proteins for LPAR6 Gene

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  • Protein details for LPAR6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43657-LPAR6_HUMAN
    Recommended name:
    Lysophosphatidic acid receptor 6
    Protein Accession:
    P43657
    Secondary Accessions:
    • A4FTW9
    • B3KVF2
    • F2YGU4
    • O15133
    • Q3KPF5
    • Q53FA0
    • Q5VW44
    • Q7Z3S0
    • Q7Z3S6

    Protein attributes for LPAR6 Gene

    Size:
    344 amino acids
    Molecular mass:
    39392 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=L11910; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • This is a nested gene within intron 17 of the retinoblastoma gene.

neXtProt entry for LPAR6 Gene

Protein Expression for LPAR6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LPAR6 Gene

  • Glycosylation at Asn5
  • Modification sites at PhosphoSitePlus

Other Protein References for LPAR6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LPAR6 Gene

Domains & Families for LPAR6 Gene

Gene Families for LPAR6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for LPAR6 Gene

InterPro:
Blocks:
  • P2 purinoceptor signature
  • P2Y5 purinoceptor signature

Suggested Antigen Peptide Sequences for LPAR6 Gene

GenScript: Design optimal peptide antigens:
  • Purinergic receptor P2Y G protein-coupled protein 5 (F2YGU4_HUMAN)
  • RB intron encoded G-protein coupled receptor (LPAR6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P43657

UniProtKB/Swiss-Prot:

LPAR6_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with LPAR6: view

Function for LPAR6 Gene

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Molecular function for LPAR6 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for LPAR6 Gene

Gene Ontology (GO) - Molecular Function for LPAR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IBA 21873635
GO:0005515 protein binding IPI 32296183
GO:0070915 lysophosphatidic acid receptor activity IBA 21873635
genes like me logo Genes that share ontologies with LPAR6: view
genes like me logo Genes that share phenotypes with LPAR6: view

Human Phenotype Ontology for LPAR6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LPAR6 Gene

MGI Knock Outs for LPAR6:
  • Lpar6 Lpar6<tm1.1(KOMP)Vlcg>

Animal Models for research

  • Taconic Biosciences Mouse Models for LPAR6

miRNA for LPAR6 Gene

miRTarBase miRNAs that target LPAR6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LPAR6

Clone products for research

  • Addgene plasmids for LPAR6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LPAR6 Gene

Localization for LPAR6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LPAR6 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LPAR6 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for LPAR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LPAR6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LPAR6 Gene

Pathways & Interactions for LPAR6 Gene

genes like me logo Genes that share pathways with LPAR6: view

SIGNOR curated interactions for LPAR6 Gene

Activates:

Gene Ontology (GO) - Biological Process for LPAR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001835 blastocyst hatching IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0035025 positive regulation of Rho protein signal transduction IBA 21873635
GO:0051482 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with LPAR6: view

Drugs & Compounds for LPAR6 Gene

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(15) Drugs for LPAR6 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Promethazine Approved, Investigational Pharma Target, inhibitor 494
cyclic amp Experimental Pharma 0
MC-1 Investigational Pharma 0
1-Oleoyl lysophosphatidic acid sodium salt Pharma Activates LPA receptor, Endogenous agonist of LPA1 and LPA2 0
H2L 5765834 Pharma LPA1,3,5 antagonist 0

(11) Additional Compounds for LPAR6 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LysoPA(0:0/16:0)
  • 2-Palmitoyl-glycero-3-phosphate
  • LPA(0:0/16:0)
  • Lysophosphatidic acid(0:0/16:0)
  • LPA(16:0)
  • 2-Hexadecanoyl-phosphatidic acid
LysoPA(0:0/18:0)
  • LPA(0:0/18:0)
  • LPA(18:0)
  • Lysophosphatidic acid(0:0/18:0)
  • Lysophosphatidic acid(18:0)
  • 2-Stearoyl-glycero-3-phosphate
LysoPA(0:0/18:1(9Z))
  • Lysophosphatidic acid(18:1)
  • LPA(0:0/18:1(9Z))
  • LPA(0:0/18:1)
  • Lysophosphatidic acid(0:0/18:1)
  • 2-Oleoyl-glycero-3-phosphate
LysoPA(0:0/18:2(9Z,12Z))
  • {3-hydroxy-2-[(9Z,12Z)-octadeca-9,12-dienoyloxy]propoxy}phosphonate
  • LPA(18:2)
  • LPA(0:0/18:2(9Z,12Z))
  • 2-(9Z,12Z-Octadecadienoyl)-phosphatidic acid
  • Lysophosphatidic acid(18:2)
LysoPA(16:0/0:0)
  • 1-Hexadecanoyl-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-sn-glycero-3-phosphoric acid
  • 1-Palmitoylglycerol 3-phosphoric acid
  • 1-Palmitoyl-sn-glycerol 3-phosphate
  • PLPA

(10) Tocris Compounds for LPAR6 Gene

Compound Action Cas Number
1-Oleoyl lysophosphatidic acid sodium salt Endogenous agonist of LPA1 and LPA2 325465-93-8
2-Methylthioadenosine diphosphate trisodium salt Potent agonist for P2Y1, P2Y12 and P2Y13 475193-31-8
GRI 977143 Selective LPA2 receptor non-lipid agonist 325850-81-5
H2L 5765834 LPA1,3,5 antagonist 420841-84-5
H2L5186303 Potent and selective LPA2 receptor antagonist 139262-76-3
MRS 2365 Highly potent and selective P2Y1 agonist 436847-09-5
MRS 2690 Potent P2Y14 agonist 15039-58-4
MRS 2693 trisodium salt Selective P2Y6 agonist 1448858-83-0
PSB 0474 Potent and selective P2Y6 agonist 917567-60-3
TC LPA5 4 LPA5 receptor antagonist 1393814-38-4

(6) ApexBio Compounds for LPAR6 Gene

Compound Action Cas Number
1-Oleoyl lysophosphatidic acid sodium salt Activates LPA receptor 325465-93-8
H2L 5765834 420841-84-5
H2L5186303 139262-76-3
Ki16198 LPA antagonist 355025-13-7
Ki16425 LPA receptor antagonist 355025-24-0
TC LPA5 4 1393814-38-4
genes like me logo Genes that share compounds with LPAR6: view

Drug products for research

Transcripts for LPAR6 Gene

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mRNA/cDNA for LPAR6 Gene

5 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LPAR6

Clone products for research

  • Addgene plasmids for LPAR6

Alternative Splicing Database (ASD) splice patterns (SP) for LPAR6 Gene

No ASD Table

Relevant External Links for LPAR6 Gene

GeneLoc Exon Structure for
LPAR6

Expression for LPAR6 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LPAR6 Gene

mRNA expression in normal human tissues for LPAR6 Gene
mRNA expression by BioGPS for LPAR6 GenemRNA expression by GTEx for LPAR6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LPAR6 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LPAR6 Gene



Protein tissue co-expression partners for LPAR6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LPAR6

SOURCE GeneReport for Unigene cluster for LPAR6 Gene:

Hs.123464

mRNA Expression by UniProt/SwissProt for LPAR6 Gene:

P43657-LPAR6_HUMAN
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 low levels in peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for LPAR6 Gene

  • Nervous system(4.4)
  • Heart(4.4)
  • Blood(4.4)
  • Skin(2.4)
  • Lymph node(2.1)
  • Intestine(2.1)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LPAR6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
Limb:
  • arm
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with LPAR6: view

Primer products for research

No data available for mRNA differential expression in normal tissues for LPAR6 Gene

Orthologs for LPAR6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LPAR6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LPAR6 29 30
  • 100 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LPAR6 29 30
  • 91.46 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia P2RY5 30
  • 89 (a)
 OneToOne
LPAR6 29
  • 88 (n)
Oppossum
(Monodelphis domestica)
 Mammalia LPAR6 30
  • 88 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Lpar6 29 16 30
  • 87.76 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lpar6 29
  • 87.17 (n)
Chicken
(Gallus gallus)
 Aves LPAR6 29
  • 72.01 (n)
-- 30
  • 18 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia LPAR6 30
  • 75 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lpar6 29
  • 73.31 (n)
Zebrafish
(Danio rerio)
 Actinopterygii lpar6a 29 30
  • 62.03 (n)
 OneToMany
lpar6b 30
  • 56 (a)
 OneToMany
Species where no ortholog for LPAR6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LPAR6 Gene

ENSEMBL:
Gene Tree for LPAR6 (if available)
TreeFam:
Gene Tree for LPAR6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LPAR6: view image
Alliance of Genome Resources:
Additional Orthologs for LPAR6

Paralogs for LPAR6 Gene

Variants for LPAR6 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LPAR6 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
1030965 Pathogenic: Hypotrichosis 8 48,411,431(-) C/CTG
NM_001162498.3(LPAR6):c.991_992dup (p.Gln331fs) 		FRAMESHIFT_VARIANT,INTRON
997567 Pathogenic: Hypotrichosis 8 48,411,886(-) AT/A
NM_001162498.3(LPAR6):c.537del (p.Tyr180fs) 		FRAMESHIFT_VARIANT,INTRON
rs115596308 Pathogenic: Hypotrichosis 8 48,411,837(-) G/A
NM_000321.2(RB1):c.1695+30394G>A 		MISSENSE_VARIANT,INTRON
rs1177544722 Likely Benign: Retinoblastoma 48,412,053(-) GAC/G
NM_000321.2(RB1):c.1695+30611_1695+30612del 		FRAMESHIFT_VARIANT,INTRON
rs1198561901 Uncertain Significance: Retinoblastoma 48,412,079(-) AAATC/A
NM_000321.2(RB1):c.1695+30637_1695+30640del 		FRAMESHIFT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LPAR6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LPAR6 Gene

Variant ID Type Subtype PubMed ID
dgv1649n100 CNV gain 25217958
esv1206120 CNV deletion 17803354
esv1248194 CNV deletion 17803354
esv2747378 CNV deletion 23290073
esv2747379 CNV deletion 23290073
esv2747380 CNV deletion 23290073
esv29390 CNV gain 19812545
nsv1050786 CNV gain 25217958
nsv1122816 CNV deletion 24896259
nsv832602 CNV loss 17160897

Variation tolerance for LPAR6 Gene

Residual Variation Intolerance Score: 35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LPAR6 Gene

Human Gene Mutation Database (HGMD)
LPAR6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LPAR6
Leiden Open Variation Database (LOVD)
LPAR6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LPAR6 Gene

Disorders for LPAR6 Gene

MalaCards: The human disease database

(21) MalaCards diseases for LPAR6 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hypotrichosis 8
  • hypt8
hypotrichosis simplex
  • hhs
familial woolly hair syndrome
  • familial wooly hair syndrome
hypotrichosis
retinoblastoma
  • rb1
- elite association - COSMIC cancer census association via MalaCards
Search LPAR6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LPAR6_HUMAN
  • Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1) [MIM:278150]: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals exhibit features of hypotrichosis. {ECO:0000269 PubMed:18297072}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hypotrichosis 8 (HYPT8) [MIM:278150]: A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT8 inheritance is autosomal recessive. {ECO:0000269 PubMed:18297070}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for LPAR6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LPAR6: view

No data available for Genatlas for LPAR6 Gene

Publications for LPAR6 Gene

  1. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. (PMID: 18297072) Shimomura Y … Christiano AM (Nature genetics 2008) 3 4 72
  2. G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. (PMID: 18297070) Pasternack SM … Betz RC (Nature genetics 2008) 3 4 72
  3. Expression of purinergic receptors (ionotropic P2X1-7 and metabotropic P2Y1-11) during myeloid differentiation of HL60 cells. (PMID: 11004484) Adrian K … Ogilvie A (Biochimica et biophysica acta 2000) 2 3 4
  4. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. (PMID: 21426374) Khan S … Ahmad W (Clinical and experimental dermatology 2011) 3 72
  5. Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene. (PMID: 18803659) Shimomura Y … Christiano AM (Experimental dermatology 2009) 3 22

ExternalLinks

View latest publications for LPAR6 gene in Mastermind

Products for LPAR6 Gene

  • Addgene plasmids for LPAR6

Sources for LPAR6 Gene