Aliases for P2RX7 Gene
Aliases for P2RX7 Gene
External Ids for P2RX7 Gene
- HGNC: 8537
- Entrez Gene: 5027
- Ensembl: ENSG00000089041
- OMIM: 602566
- UniProtKB: Q99572
Previous GeneCards Identifiers for P2RX7 Gene
- GC12P120432
- GC12P121185
- GC12P121353
- GC12P119982
- GC12P120033
- GC12P121570
- GC12P118580
- GC12P121186
- GC12P121278
- GC12P121334
- GC12P121398
- GC12P121463
- GC12P121522
- GC12P122012
- GC12P122098
Summaries for P2RX7 Gene
-
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity 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]
GeneCards Summary for P2RX7 Gene
P2RX7 (Purinergic Receptor P2X 7) is a Protein Coding gene. Diseases associated with P2RX7 include Extrapulmonary Tuberculosis and Bone Cancer. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Toll-like Receptor Signaling Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is P2RX4.
UniProtKB/Swiss-Prot for P2RX7 Gene
-
Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells (PubMed:21821797, PubMed:23303206).
-
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.
Additional gene information for P2RX7 Gene
- Monarch Initiative
- Search for P2RX7 at DataMed
- Search for P2RX7 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P2RX7 Gene
Genomics for P2RX7 Gene
GeneHancer (GH) Regulatory Elements for P2RX7 Gene
Promoters and enhancers for P2RX7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around P2RX7 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the P2RX7 gene promoter:
-
- NF-kappaB1
- deltaCREB
- CREB
- NF-1
- FOXO1a
- FOXO1
- SREBP-1a
- SREBP-1b
- SREBP-1c
- YY1
Regulatory Element Products
Genomic Locations for P2RX7 Gene
Genomic Locations for P2RX7 Gene
- chr12:121,132,819-121,188,032
- (GRCh38/hg38)
- Size:
- 55,214 bases
- Orientation:
- Plus strand
- chr12:121,570,622-121,624,354
- (GRCh37/hg19)
- Size:
- 53,733 bases
- Orientation:
- Plus strand
Genomic View for P2RX7 Gene
Genes around P2RX7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by Entrez Gene
- 12q24.31 by HGNC
- 12q24.31 by Ensembl
P2RX7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for P2RX7 Gene
Proteins for P2RX7 Gene
-
Protein details for P2RX7 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99572-P2RX7_HUMAN
- Recommended name:
- P2X purinoceptor 7
- Protein Accession:
- Q99572
- A8K2Z0
- E7EMK6
- F5H6P2
- F5H7E8
- F8W951
- O14991
- Q4VKH8
- Q4VKH9
- Q4VKI0
- Q4VKI1
- Q4VKI2
- Q4VKI3
- Q4VKI4
- Q7Z771
- Q96EV7
Protein attributes for P2RX7 Gene
- Size:
- 595 amino acids
- Molecular mass:
- 68585 Da
- Quaternary structure:
-
- Functional P2XRs are organized as homomeric and heteromeric trimers. Interacts with LAMA3, ITGB2, ACTB, ACTN4, SVIL, MPP3, HSPA1, HSPCB, HSPA8, PIK230 and PTPRB. Interacts (via C-terminus) with EMP2 (PubMed:12107182).
Protein Expression for P2RX7 Gene
Post-translational modifications for P2RX7 Gene
- Phosphorylation results in its inactivation.
- ADP-ribosylation at Arg-125 is necessary and sufficient to activate P2RX7 and gate the channel.
- Palmitoylation of several cysteines in the C-terminal cytoplasmic tail is required for efficient localization to cell surface.
- Glycosylation at isoforms=2, 4, 7, 8284, Asn241, isoforms=2, 4, 7, 8213, Asn202, and isoforms=2, 4, 5, 7, 8187
- Modification sites at PhosphoSitePlus
Other Protein References for P2RX7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for P2RX7 (P2X7/P2RX7)
- Novus Biologicals Antibodies for P2RX7
-
Abcam antibodies for P2RX7
- Invitrogen Antibodies for P2RX7
- GeneTex P2RX7 Antibody for P2RX7
-
Custom Antibody ServicesProSci Antibodies for P2RX7
-
Santa Cruz Biotechnology (SCBT) Antibodies for P2RX7
Protein Products
-
OriGene Purified Proteins for P2RX7
- Search Origene for MassSpec and Protein Over-expression Lysates for P2RX7
- Origene Custom Protein Services for P2RX7
- Search GeneTex for Proteins for P2RX7
-
Abcam proteins for P2RX7
Assay Products
No data available for DME Specific Peptides for P2RX7 Gene
Domains & Families for P2RX7 Gene
Gene Families for P2RX7 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
- Transporters
Protein Domains for P2RX7 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for P2RX7 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99572- Family:
-
- Belongs to the P2X receptor family.
Function for P2RX7 Gene
Molecular function for P2RX7 Gene
- UniProtKB/Swiss-Prot Function:
- Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells (PubMed:21821797, PubMed:23303206).
- GENATLAS Biochemistry:
- purinoceptor,P2X7
Phenotypes From GWAS Catalog for P2RX7 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001530 | lipopolysaccharide binding | ISS | -- |
| GO:0001614 | purinergic nucleotide receptor activity | IDA | 9038151 |
| GO:0004931 | extracellularly ATP-gated cation channel activity | TAS | -- |
| GO:0005102 | signaling receptor binding | ISS | 17785580 |
| GO:0005216 | ion channel activity | IEA | -- |
Phenotypes for P2RX7 Gene
- MGI mutant phenotypes for P2RX7:
-
inferred from 6 alleles
- cardiovascular system phenotype
- limbs/digits/tail phenotype
- homeostasis/metabolism phenotype
- behavior/neurological phenotype
- integument phenotype
- cellular phenotype
- skeleton phenotype
- hearing/vestibular/ear phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for P2RX7:
-
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Decreased shRNA abundance
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased IL-8 secretion
Animal Models for P2RX7 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for P2RX7
- Cyagen custom Knockout/knockin (KOKI) mouse models for P2RX7
-
CRISPR Products
-
OriGene CRISPR knockouts for P2RX7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for P2RX7
- genomics-online: gRNA clones - Search results for 117 available P2RX7 gene related products
- Overview of 117 available P2RX7 gene related products
- Applied Biological Materials CRISPR for P2RX7
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for P2RX7
- GenScript: Design CRISPR guide RNA sequences for P2RX7
miRNA for P2RX7 Gene
- miRTarBase miRNAs that target P2RX7
-
- hsa-mir-186-5p (MIRT004356)
- hsa-mir-150-5p (MIRT004357)
- hsa-mir-218-1-3p (MIRT443516)
- hsa-mir-1200 (MIRT443517)
- hsa-mir-378a-5p (MIRT443518)
- hsa-mir-9-3p (MIRT443519)
- hsa-mir-4682 (MIRT443520)
- hsa-mir-544b (MIRT443521)
- hsa-mir-4324 (MIRT443522)
- hsa-mir-876-5p (MIRT529929)
- hsa-mir-3167 (MIRT529930)
- hsa-mir-6880-3p (MIRT529931)
- hsa-mir-4312 (MIRT529932)
- hsa-mir-1324 (MIRT529933)
- hsa-mir-4524b-3p (MIRT529935)
- hsa-mir-6809-3p (MIRT655556)
- hsa-mir-6833-3p (MIRT655557)
- hsa-mir-4768-5p (MIRT655558)
- hsa-mir-4753-3p (MIRT655559)
- hsa-mir-3191-5p (MIRT655560)
- hsa-mir-627-3p (MIRT655561)
- hsa-mir-130b-5p (MIRT655562)
- hsa-mir-3921 (MIRT655563)
- hsa-mir-4653-5p (MIRT655564)
- hsa-mir-301b-5p (MIRT655565)
- hsa-mir-301a-5p (MIRT655566)
- hsa-mir-146a-3p (MIRT655567)
- hsa-mir-216b-5p (MIRT655568)
- hsa-mir-640 (MIRT677134)
- hsa-mir-6821-3p (MIRT677135)
- hsa-mir-6790-3p (MIRT677136)
- hsa-mir-186-3p (MIRT677137)
- hsa-mir-3934-5p (MIRT677138)
- hsa-mir-764 (MIRT677139)
- hsa-mir-125a-3p (MIRT677140)
- hsa-mir-6778-3p (MIRT678525)
- hsa-mir-3653-5p (MIRT678526)
- hsa-mir-520h (MIRT678527)
- hsa-mir-520g-3p (MIRT678528)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for P2RX7
- Browse OriGene Inhibitory RNA Products For P2RX7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P2RX7
- genomics-online: shRNA clones - Search results for 117 available P2RX7 gene related products
- Overview of 117 available P2RX7 gene related products
Clone Products
- Sino Biological Human cDNA Clone for P2RX7
- VectorBuilder custom plasmid, inducible vectors for P2RX7
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for P2RX7
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for P2RX7
- Applied Biological Materials Clones for P2RX7
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for P2RX7 (P2X7/P2RX7)
Cell Line Products
-
Horizon Cell Lines for P2RX7
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for P2RX7 Gene
Localization for P2RX7 Gene
Subcellular locations from UniProtKB/Swiss-Prot for P2RX7 Gene
- Cell membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 4 |
| extracellular | 3 |
| cytosol | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005639 | integral component of nuclear inner membrane | IBA | -- |
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005886 | plasma membrane | TAS,ISS | -- |
| GO:0005887 | integral component of plasma membrane | IC | 9038151 |
| GO:0005911 | cell-cell junction | IEA | -- |
Pathways & Interactions for P2RX7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Platelet homeostasis | ||
| 2 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
.01
|
|
| 3 | Toll-like Receptor Signaling Pathway | ||
| 4 | Innate Immune System |
.61
|
|
| 5 | Calcium signaling pathway | ||
Pathways by source for P2RX7 Gene
9 Reactome pathways for P2RX7 Gene
3 KEGG pathways for P2RX7 Gene
1 R&D Systems pathway for P2RX7 Gene
1 Qiagen pathway for P2RX7 Gene
2 Cell Signaling Technology pathways for P2RX7 Gene
Interacting Proteins for P2RX7 Gene
| 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 | IEA | -- |
No data available for SIGNOR curated interactions for P2RX7 Gene
Drugs & Compounds for P2RX7 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Ivermectin | Approved, Investigational, Vet_approved | Pharma | activator | NAChR/purinergic P2X4 receptor modulator | 70 | |
| DECAVANADATE | Pharma | Antagonist, Activator | 0 | |||
| KN62 | Pharma | Antagonist | 0 | |||
| 2-Methylthioadenosine triphosphate tetrasodium salt | Pharma | P2 purinergic agonist | 0 | |||
| NF 157 | Pharma | Selective P2Y11/P2X1 antagonist | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ATPgammaS tetralithium salt |
|
93839-89-5 |
|
|
(5) Tocris Compounds for P2RX7 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 2-Methylthioadenosine triphosphate tetrasodium salt | P2 purinergic agonist | 100020-57-3 |
| ATPgammaS tetralithium salt | P2 agonist; ATP (Cat. No. 3245) analog | 93839-89-5 |
| NF 157 | Selective P2Y11/P2X1 antagonist | 104869-26-3 |
| PPADS tetrasodium salt | P2 purinergic antagonist | 192575-19-2 |
| Suramin hexasodium salt | Non-selective P2 antagonist | 129-46-4 |
Drug Products
Transcripts for P2RX7 Gene
mRNA/cDNA for P2RX7 Gene
- (8) REFSEQ mRNAs :
- (31) Additional mRNA sequences :
- (72) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000537312 2134 bps (uc058ufe.1)
- ENST00000328963 5161 bps (uc001tzm.4)
- ENST00000535928 546 bps (uc058uff.1)
- ENST00000539695 1832 bps (uc058ufg.1)
- ENST00000545434 520 bps (uc058ufh.1)
Unigene Clusters for P2RX7 Gene
CRISPR Products
-
OriGene CRISPR knockouts for P2RX7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for P2RX7
- genomics-online: gRNA clones - Search results for 117 available P2RX7 gene related products
- Overview of 117 available P2RX7 gene related products
- Applied Biological Materials CRISPR for P2RX7
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for P2RX7
- GenScript: Design CRISPR guide RNA sequences for P2RX7
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for P2RX7
- Browse OriGene Inhibitory RNA Products For P2RX7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P2RX7
- genomics-online: shRNA clones - Search results for 117 available P2RX7 gene related products
- Overview of 117 available P2RX7 gene related products
Clone Products
- Sino Biological Human cDNA Clone for P2RX7
- VectorBuilder custom plasmid, inducible vectors for P2RX7
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for P2RX7
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for P2RX7
- Applied Biological Materials Clones for P2RX7
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for P2RX7 (P2X7/P2RX7)
| 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: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - |
Expression for P2RX7 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for P2RX7 Gene
This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.7), Brain - Substantia nigra (x4.2), and Brain - Hippocampus (x4.1).
This gene is overexpressed in Frontal cortex (33.5), Spinal cord (14.5), and Bone (10.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for P2RX7 Gene
NURSA nuclear receptor signaling pathways regulating expression of P2RX7 Gene:
P2RX7SOURCE GeneReport for Unigene cluster for P2RX7 Gene:
Hs.729169mRNA Expression by UniProt/SwissProt for P2RX7 Gene:
Q99572-P2RX7_HUMAN
Tissue specificity:
Widely expressed with highest levels in brain and immune tissues.
Evidence on tissue expression from TISSUES for P2RX7 Gene
- Nervous system(4.9)
- Blood(4.5)
- Skin(4.4)
- Liver(4.2)
- Adrenal gland(2.8)
- Kidney(2.2)
- Muscle(2)
Primer Products
-
OriGene qPCR primer pairs for P2RX7
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for P2RX7 Gene
Orthologs for P2RX7 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | P2RX7 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | P2RX7 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | P2RX7 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | P2rx7 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | P2RX7 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | P2RX7 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | P2RX7 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100490828 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | p2X7 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | p2rx7 34 33 |
|
OneToOne | |
| -- 33 |
|
- Species where no ortholog for P2RX7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (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 P2RX7 Gene
- ENSEMBL:
- Gene Tree for P2RX7 (if available)
- TreeFam:
- Gene Tree for P2RX7 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for P2RX7: view image
Paralogs for P2RX7 Gene
(8) SIMAP similar genes for P2RX7 Gene using alignment to 8 proteins:
- P2RX7_HUMAN
- C6KE32_HUMAN
- F5H237_HUMAN
- F5H2X6_HUMAN
- F5H8E7_HUMAN
- J3KN30_HUMAN
- K4K1I8_HUMAN
- Q0IJ51_HUMAN
Variants for P2RX7 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_036444 | A colorectal cancer sample | p.Asn25Ser | |||
| VAR_036445 | A colorectal cancer sample | p.Arg574Leu | |||
| rs28360460 | uncertain-significance, not provided | 121,184,747(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000002654 | -- | 121,168,468(+) | T/G | intron_variant | |
| rs1000069620 | -- | 121,135,449(+) | C/T | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv307e214 | CNV | gain | 21293372 |
| dgv319e199 | CNV | deletion | 23128226 |
| esv26396 | CNV | gain | 19812545 |
| esv2746483 | CNV | deletion | 23290073 |
| esv2759917 | CNV | loss | 17122850 |
| esv3630934 | CNV | loss | 21293372 |
| esv3630940 | CNV | loss | 21293372 |
| esv3630941 | CNV | loss | 21293372 |
| esv3630942 | CNV | loss | 21293372 |
| esv3630943 | CNV | loss | 21293372 |
| nsv1054878 | CNV | gain | 25217958 |
| nsv1127298 | CNV | deletion | 24896259 |
| nsv521928 | CNV | gain | 19592680 |
| nsv560454 | CNV | loss | 21841781 |
| nsv560455 | CNV | gain | 21841781 |
| nsv832531 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
21.94;
99.36% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for P2RX7 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P2RX7 Gene
Disorders for P2RX7 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| extrapulmonary tuberculosis |
|
|
| bone cancer |
|
|
| tularemia |
|
|
| root resorption |
|
|
| pulmonary tuberculosis |
|
Search P2RX7 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for P2RX7
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for P2RX7 Gene
Publications for P2RX7 Gene
- The permeabilizing ATP receptor, P2X7. Cloning and expression of a human cDNA. (PMID: 9038151) Rassendren F … Surprenant A (The Journal of biological chemistry 1997) 2 3 4 22 58
- Functional variants of the P2RX7 gene, aseptic osteolysis, and revision of the total hip arthroplasty: a preliminary study. (PMID: 19891999) Mrazek F … Petrek M (Human immunology 2010) 3 22 44 58
- P2X7 gene polymorphisms and risk assessment for pulmonary tuberculosis in Asian Indians. (PMID: 20164546) Sambasivan V … Hasan Q (Disease markers 2010) 3 22 44 58
- Palmitoylation of the P2X7 receptor, an ATP-gated channel, controls its expression and association with lipid rafts. (PMID: 18971257) Gonnord P … Kanellopoulos JM (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 4 22 58
- Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a dimensional approach. (PMID: 18543274) Hejjas K … Nemoda Z (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 44 58
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- Mammalian expression: PiggyBac
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Sources for P2RX7 Gene
- (1) GeneCards
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- (68) Cloud-Clone Corp.
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- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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