Basic Information

P2X7

Full name: purinergic receptor P2X 7

Gene type: protein coding

HGNC ID: HGNC:8537

Gene location: 12q24.31

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/5027

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:8537

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_002562.6

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q99572

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q99572

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/602566

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=5027

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04020+5027

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
P2X7 Missense Variant rs17525809 T>C chr12:121154886 (GRCh38.p13)
P2X7 stop Gained rs28360447 T>A / T>C chr12:121162435 (GRCh38.p13)
P2X7 Missense Variant rs208294 T>A / T>C / T>G chr12:121162450 (GRCh38.p13)
P2X7 Missense Variant rs7958311 G>A / G>C chr12:121167552 (GRCh38.p13)
P2X7 Missense Variant rs7958316 G>A chr12:121167570 (GRCh38.p13)
P2X7 Intron Variant rs28360457 G>A chr12:121175426 (GRCh38.p13)
P2X7 Missense Variant rs1718119 G>A / G>T chr12:121177300 (GRCh38.p13)
P2X7 Missense Variant rs2230911 C>G chr12:121177328 (GRCh38.p13)
P2X7 Missense Variant rs2230912 A>G chr12:121184393 (GRCh38.p13)
P2X7 Missense Variant rs3751143 A>C / A>G chr12:121184501 (GRCh38.p13)
P2X7 Missense Variant rs1653624 T>A / T>C / T>G chr12:121184717 (GRCh38.p13)