Log in to save this analysis

Save This Analysis

Gene Gene information from NCBI Gene database.
Entrez ID 286530
Gene name P2Y receptor family member 8
Gene symbol P2RY8
Synonyms (NCBI Gene)
P2Y8
Chromosome X|Y
Chromosome location X;Y
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 is moderately expressed in undifferentiated HL60 cells, and is located on both chromos
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1603452612 G>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
75 Show/Hide all (75)
miRTarBase ID miRNA Experiments Reference
MIRT1209103 hsa-miR-103a CLIP-seq
MIRT1209104 hsa-miR-107 CLIP-seq
MIRT1209105 hsa-miR-3150b-3p CLIP-seq
MIRT1209106 hsa-miR-324-5p CLIP-seq
MIRT1209107 hsa-miR-331-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16 Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IDA 25274307
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 25274307
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300525 15524 ENSG00000182162
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86VZ1
Protein name S-geranylgeranyl-glutathione receptor P2RY8 (P2Y purinoceptor 8) (P2Y8)
Protein function G protein-coupled receptor for S-geranylgeranyl-glutathione (GGG), an endogenous metabolite present in lymphoid tissues. Couples the binding of GGG to the activation of GNA13 and downstream repression of AKT activation in lymphocytes defining th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 40 → 293 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Barely detectable in normal blood leukocytes. Weaker expression was seen in heart, kidney and lung. Not detected in brain (PubMed:11004484, PubMed:15466006). Expressed in B cells and follicular helper T cells in germinal centers (at pr
Sequence
Sequence length 359
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway
Neuroactive ligand-receptor interaction
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Multiple myeloma Likely pathogenic rs1603452612 RCV000984127
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (24)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 17487742
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19838194, 22368272, 22484421, 27899802
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 19838194, 22368272
★★★★★
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 30842656
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36360294 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease Pubtator 40650227 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia CTD_human_DG 19838194
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 19838194, 22368272, 23091296, 27899802
★★★★★
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 40650227 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 19838194, 22484421
★★★★★
★☆☆☆☆
Found in Text Mining only