P2RX7 Gene
protein-coding GIFtS: 68
GCID: GC12P121570
|
|
purinergic receptor P2X, ligand-gated ion channel, 7
| |
Aliases for P2RX7 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
| This gene clusters with an RNA gene Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| Purinergic Receptor P2X, Ligand-Gated Ion Channel, 71 2 | | P2X Purinoceptor 72 | | P2X71 2 3 5 | | P2X7 Receptor2 | | ATP Receptor2 3 | | Purinergic Receptor P2X7 Variant A2 | | P2Z Receptor2 3 | | Purinergic Receptor3 | | MGC200891 | | |
| External Ids: | HGNC: 85371 | Entrez Gene: 50272 | Ensembl: ENSG000000890417 | OMIM: 6025665 | UniProtKB: Q995723 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n409565 | |
Export aliases for P2RX7 gene to outside databasesPrevious GC identifers: GC12P120432 GC12P121185 GC12P121353 GC12P119982 GC12P120033 GC12P118580
Summaries for P2RX7 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for P2RX7: The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ionchannel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable tolarge molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellularactivity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified,most of which fit nonsense-mediated decay (NMD) criteria. (provided by RefSeq, Jul 2010) UniProtKB/Swiss-Prot: P2RX7_HUMAN, Q99572Function: Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophagesthrough the formation of membrane pores permeable to large molecules. Could function in both fast synaptictransmission and the ATP-mediated lysis of antigen-presenting cells
summary
for P2RX7: P2X receptors are members of the ligand-gated ion channel family that open in response to extracellular ATP. Each receptor is made up of a trimer of subunits (P2X1-7) all of which share the common structure of two transmembrane domains, a large extracellular loop and intracellular C- and N-termini. Receptors can be formed from triplets of identical subunits (homomeric) and can also exist as heteromers. With the exception of P2X6, all subunits can form homomeric receptors. P2X receptors have a wide distribution throughout the body, including the central, peripheral and autonomic nervous systems, smooth muscle, heart and leukocytes. They are involved in a range of physiological processes such as modulation of synaptic transmission, vascular tone, cardiac rhythm and contractility and nociception. Gene Wiki entry for P2RX7
|
Genomic Views for P2RX7 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_009775.17
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the P2RX7 gene promoter: NF-1 SREBP-1c YY1 SREBP-1b CREB SREBP-1a deltaCREB FOXO1a NF-kappaB1 FOXO1 Other transcription factors
Search SABiosciences Chromatin IP Primers for P2RX7
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat P2RX7 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q24 Ensembl cytogenetic band: 12q24.31 HGNC cytogenetic band: 12q24P2RX7 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P121570: view genomic region
(about GC identifiers)
Start:
|
121,570,622 bp from pter |
End:
|
121,624,354 bp from pter |
Size:
|
53,733 bases |
Orientation:
|
plus strand |
|
Proteins for P2RX7 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: P2RX7_HUMAN, Q99572 (See
protein sequence)Recommended Name: P2X purinoceptor 7 Size: 595 amino acids; 68585 Da
Subunit: Functional P2XRs are organized as homomeric and heteromeric trimers. Interacts with LAMA3, ITGB2, ACTB, ACTN4,SVIL, MPP3, HSPA1, HSPCB, HSPA8, PIK230 and PTPRB
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: A8K2Z0 O14991 Q96EV7Explore the universe of human proteins at neXtProt for P2RX7: NX_Q99572
Post-translational modifications:
Phosphorylation results in its inactivation1
ADP-ribosylation at Arg-125 is necessary and sufficient to activate P2RX7 and gate the channel (By similarity)1
Palmitoylation of several cysteines in the C-terminal cytoplasmic tail is required for efficient localization to cellsurface1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q99572 P2RX7 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_002553.3 ENSEMBL proteins: ENSP00000438586 ENSP00000442349 ENSP00000439961 ENSP00000445564 ENSP00000261826 ENSP00000399864 ENSP00000445325 ENSP00000437729 ENSP00000441230 ENSP00000443640 ENSP00000439247 ENSP00000442470 ENSP00000366367 ENSP00000442572 ENSP00000330696 ENSP00000437471 Reactome Protein details: Q99572 Human Recombinant Protein Products:
Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15): About this table
P2RX7 for ontologies About GeneDecksing
P2RX7 Antibody Products: Assay Products for P2RX7: |
Protein
Domains / Families for P2RX7 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
P2RX7 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q99572ProtoNet protein and cluster: Q99572 2 Blocks protein families: IPB001429 ATP P2X receptor IPB003050 P2X7 purinoceptor signature
UniProtKB/Swiss-Prot: P2RX7_HUMAN, Q99572Similarity: Belongs to the P2X receptor family |
Function for P2RX7 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: P2RX7_HUMAN, Q99572Function: Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophagesthrough the formation of membrane pores permeable to large molecules. Could function in both fast synaptictransmission and the ATP-mediated lysis of antigen-presenting cells Genatlas biochemistry entry for P2RX7:purinoceptor,P2X7
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for P2RX7 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for P2RX7 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: P2RX7 (NM_002562) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for P2RX7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat P2RX7  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P2RX7 |
Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14): About this table
P2RX7 for ontologies About GeneDecksing
Animal Models: Mouse knock-outs for P2RX7: P2rx7tm1Lex P2rx7tm1Ipch P2rx7tm1Gab 10 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for P2rx7):
P2RX7 for phenotypes About GeneDecksing
|
Pathways & Interactions for P2RX7 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Inflammasomes | | | 2 | Immune System | | | 3 | P2X7 mediates membrane pores that include pannexin-1 | | | 4 | Calcium signaling pathway | | | 5 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways | |
Pathway sources See GeneCards unified pathways Show all pathways
1 R&D Systems Pathway for P2RX7 1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for P2RX7 5/6
Reactome Pathways for P2RX7 (see all 6)
2
Kegg Pathways (Kegg details for P2RX7):
P2RX7 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for P2RX7
STRING Interaction
Network Preview (showing 5 interactants - click image to see 12)
 5/13 Interacting proteins for P2RX7 (Q995721, 2, 3 ENSP000002618264) via UniProtKB, MINT, STRING, and/or I2D (see all 13)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| ABL1 | P005191, 2, 3, ENSP000003614234 | EBI-1753251,EBI-375543 MINT-8110611 I2D:
score=3 STRING: ENSP00000361423 | | NCK1 | P163331, 3, ENSP000002889864 | EBI-1753251,EBI-389883 I2D:
score=2 STRING: ENSP00000288986 | | GRB2 | P629931, 3, ENSP000003390074 | EBI-1753251,EBI-401755 I2D:
score=2 STRING: ENSP00000339007 | | CAMP | P499133 | I2D:
score=1 | | APP | ENSP000002849814 | STRING: ENSP00000284981 | About this table
Gene Ontology (GO): 5/77 biological process terms (GO ID links to tree view) (see all 77): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000187 | activation of MAPK activity |
IEA | -- | | GO:0000902 | cell morphogenesis |
IEA | -- | | GO:0001845 | phagolysosome assembly |
IEA | -- | | GO:0001916 | positive regulation of T cell mediated cytotoxicity |
IEA | -- | | GO:0001934 | positive regulation of protein phosphorylation |
-- | -- |
P2RX7 for ontologies About GeneDecksing
|
Drugs & Compounds for P2RX7 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
P2RX7 for compounds About GeneDecksing
Compounds for P2RX7 available from Tocris Bioscience About this table 10/44 Novoseek chemical compound relationships for P2RX7 gene (see all 44) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| bzatp |
96.6 |
48 |
9384508 (3), 18545980 (3), 15325248 (2), 14741428 (2) (see all 30) |
| oatp |
85.4 |
14 |
19385050 (3), 16341234 (2), 14522840 (1), 18627610 (1) (see all 7) |
| atp |
85.2 |
276 |
15304508 (4), 12151017 (4), 9384508 (4), 19889958 (4) (see all 99) |
| kn62 |
83.3 |
7 |
9324363 (1), 10762053 (1), 16117789 (1) |
| atp(4-) |
82 |
7 |
8879819 (3), 8360160 (1), 16338230 (1), 1846654 (1) (see all 5) |
| ppads |
76.1 |
3 |
16344139 (1), 18490962 (1), 20136836 (1) |
| 2-methylthio-atp |
73.2 |
2 |
9384508 (1) |
| ethidium bromide |
71.9 |
8 |
15942904 (3), 19814727 (1), 16487507 (1), 19800793 (1) (see all 6) |
| suramin |
70.3 |
6 |
9324363 (1), 18501702 (1), 18242779 (1), 19889958 (1) |
| atpgammas |
68.3 |
2 |
12956724 (1), 9384508 (1) |
Search CenterWatch for drugs/clinical trials and news about P2RX7 
|
Transcripts for P2RX7 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for P2RX7 gene (2 alternative transcripts): NM_002562.5 NM_177427.2 Unigene Cluster for P2RX7: Purinergic receptor P2X, ligand-gated ion channel, 7 Hs.729169 [show with all ESTs]Unigene Representative Sequence: NR_03394817 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000537312 ENST00000546057 ENST00000535928 ENST00000539695 ENST00000545434 ENST00000261826(uc001tzn.3 uc001tzm.3 uc001tzo.3 uc001tzp.3 uc001tzq.3) ENST00000443520 ENST00000539606 ENST00000541716 ENST00000541022 ENST00000541564 ENST00000538011 ENST00000535600 ENST00000377162 ENST00000535250 ENST00000328963 ENST00000541446
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for P2RX7 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for P2RX7 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: P2RX7 (NM_002562) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for P2RX7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat P2RX7  |
Additional cDNA sequence: AB209709.1 AF086177.1 AK090866.1 AK225163.1 AK290405.1 AK294126.1 AK296432.1 AY847298.1 AY847299.1 AY847300.1 AY847301.1 AY847302.1 AY847303.1 AY847304.1 BC007679.2 BC011913.2 BC121157.1 BC121158.1 DQ399293.1 GQ180122.1 JX471562.1 NR_033948.1 NR_033949.1 NR_033950.1 NR_033951.1 NR_033952.1 NR_033953.1 NR_033954.1 NR_033955.1 NR_033956.1 Y09561.1 13 DOTS entries: DT.40195733 DT.91889751 DT.121148625 DT.100016588 DT.121148623 DT.91816221 DT.121148608 DT.121148617 DT.121148629 DT.95095086 DT.100777516 DT.121148599 DT.121148612 24/72 AceView cDNA sequences (see all 72): BE503402 NM_002562 AA362345 BE858390 AI347736 AI917481 AI886085 AI655467 AA362346 AI419360 NM_177427 BM557229 AI468408 BC007679 BE816017 AI566800 AF086177 BM677585 AK090866 N34573 CB960922 BX506820 AA210664 BE382829 GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for P2RX7 (see all 13) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for P2RX7
|
Expression for P2RX7 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| P2RX7 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See P2RX7 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for P2RX7
SOURCE GeneReport for Unigene cluster: Hs.729169 SABiosciences Expression via Pathway-Focused PCR Arrays including P2RX7:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for P2RX7 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat P2RX7 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat P2RX7 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat P2RX7 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P2RX7 |
Orthologs for P2RX7 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for P2RX7 gene from 4/16 species (see all 16) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
P2RX71 |
purinergic receptor P2X, ligand-gated ion channel, 7 less |
57.66(n) 49.08(a) |
  |
771952 XM_001235162.2 XP_001235163.2 |
lizard (Anolis carolinensis) |
Reptilia |
P2RX76 |
-- |
57(a) |
1 ↔ 1 |
LGb(2266525-2275583) |
African clawed frog (Xenopus laevis) |
Amphibia |
p2X72 |
ATP gated ion channel |
73.86(n) |
  |
AJ345114.1 |
zebrafish (Danio rerio) |
Actinopterygii |
AY292652.12 |
-- |
73.52(n) |
  |
387301 AY292652.1 |
ENSEMBL Gene Tree for P2RX7 (if available) TreeFam Gene Tree for P2RX7 (if available)  |
Paralogs for P2RX7 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for P2RX7 gene
- P2RX52 P2RX32 ENSG000002579502 P2RX62 P2RX42 P2RX12 P2RX22
8 SIMAP similar genes for P2RX7 using alignment to 21 protein entries: P2RX7_HUMAN (see all proteins):C12orf76 P2X4 P2RX1 P2RX4 P2RX3 P2RX5 P2RX2 P2RX6
P2RX7 for paralogs About GeneDecksing
|
Genomic Variants for P2RX7 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 12 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for P2RX7 (121570622 - 121624354 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for P2RX7 2 CNVs: 3899 66345 Human Gene Mutation Database (HGMD): P2RX7
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing P2RX7 |
|
Disorders
/ Diseases for P2RX7 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
P2RX7 for disorders About GeneDecksing
OMIM gene information: 602566
OMIM disorders: --
20/56 diseases for P2RX7 (see all 56): About MalaCardsspinal cord injury mycobacterial infection major depressive disorder bipolar affective disorder irritable bowel syndrome amyotrophic lateral sclerosis mood disorder extrapulmonary tuberculosis bipolar i disorder lateral sclerosis systemic lupus erythematosus lymphocytic leukemia anxiety disorder lupus erythematosus bipolar disorder chronic lymphocytic leukemia neurodegenerative disease sarcoidosis tuberculosis neuroma
1 disease from the University of Copenhagen DISEASES database for P2RX7:Tuberculosis 10/22 Novoseek disease relationships for P2RX7 gene (see all 22) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| leukemia lymphocytic chronic |
40.8 |
2 |
18937793 (1), 15184265 (1) |
| leukaemia lymphocytic |
39.6 |
5 |
12931211 (2), 15180873 (1), 12727428 (1), 12493261 (1) |
| lymphocytic leukemia chronic b-cell |
34.8 |
3 |
15089763 (1), 18937793 (1), 11781259 (1) |
| mycobacterial infection |
28.8 |
1 |
15942904 (1) |
| inflammation |
23.9 |
8 |
19524819 (1), 18772321 (1), 17367517 (1), 18602931 (1) (see all 8) |
| tuberculosis |
21.3 |
19 |
19076224 (4), 12404161 (1), 11693438 (1) |
| bipolar disorder |
17.3 |
8 |
17558618 (1), 20446288 (1), 16822851 (1), 18543274 (1) |
| renal cyst |
14.8 |
1 |
15325248 (1) |
| tuberculosis pulmonary |
9.51 |
3 |
20164546 (1), 17034577 (1), 17493019 (1) |
| necrosis |
8.8 |
5 |
17558618 (1), 17525149 (1), 16613995 (1), 15830104 (1) (see all 5) |
Genetic Association Database (GAD): P2RX7 Human Genome Epidemiology (HuGE) Navigator: P2RX7 (55 documents) Export disorders for P2RX7 gene to outside databases
|
Publications for P2RX7 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for P2RX7 gene, integrated from 9 sources (see all 431): (articles sorted by number of sources associating them with P2RX7) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The permeabilizing ATP receptor, P2X7. Cloning and expression of a human cDNA. (PubMed id 9038151)1, 2, 3, 9 Rassendren F....Surprenant A. (1997)
- Gene structure and chromosomal localization of the human P2X7 receptor. (PubMed id 9826911)1, 2, 3 Buell G.N....Antonarakis S.E. (1998)
- A 5' intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population. (PubMed id 15862308)1, 4, 9 Skarratt K.K....Wiley J.S. (2005)
- P2X7 polymorphism and chronic lymphocytic leukaemia: lack of correlation with incidence, survival and abnormalities of chromosome 12. (PubMed id 12931211)1, 4, 9 Zhang L.Y....Cross N.C. (2003)
- Polymorphism in the P2X7 receptor gene and survival in chronic lymphocytic leukaemia. (PubMed id 12493261)1, 4, 9 Thunberg U....Rosenquist R. (2002)
- Palmitoylation of the P2X7 receptor, an ATP-gated channel, controls its expression and association with lipid rafts. (PubMed id 18971257)1, 2, 9 Gonnord P....Kanellopoulos J.M. (2009)
- 1513A/C polymorphism in the P2X7 receptor gene in chronic lymphocytic leukemia: absence of correlation with clinical outcome. (PubMed id 15089763)1, 4, 9 Nuckel H....Siffert W. (2004)
- An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor. (PubMed id 15123679)1, 2, 9 Gu B.J....Wiley J.S. (2004)
- The P2X7 receptor gene A1513C polymorphism does not contribute to risk of familial or sporadic chronic lymphocytic leukemia. (PubMed id 15184265)1, 4, 9 Sellick G.S....Houlston R.S. (2004)
- Association of a polymorphism in the P2X7 gene with tuberculosis in a Gambian population. (PubMed id 12404161)1, 4, 9 Li C.M....Lammas D.A. (2002)
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External Searches for P2RX7 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing P2RX7 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing P2RX7 gene
(According to HUGE)
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Specialized Databases showing P2RX7 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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About This Section
| Patent Information for P2RX7 gene: Search GeneIP for patents involving P2RX7
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for P2RX7 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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