P2RX7 - purinergic receptor P2X 7 Gene

Homo sapiens

Also known as P2X7

Gene ID: 5027 | Gene type: protein coding

About P2RX7

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:121,132,876-121,188,032 (from NCBI)

This gene has 13 transcripts (splice variants), 195 orthologues, 6 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 6.8), skin (RPKM 4.9) and 23 other tissues.

Summary

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]

P2RX7 Products(14)

mRNA	Protein	Name
XM_017019367.3	XP_016874856.1	P2X purinoceptor 7 isoform X3
XM_011538419.4	XP_011536721.1	P2X purinoceptor 7 isoform X2
NR_033955.2
NR_033953.2
NR_033954.2
NM_002562.6	NP_002553.3	P2X purinoceptor 7
XM_047428912.1	XP_047284868.1	P2X purinoceptor 7 isoform X1
NR_033950.2
NR_033948.2
NR_033952.2
NR_033956.2
NR_033949.2
NR_033951.2
NM_177427.2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables extracellularly ATP-gated monoatomic cation channel activity	IDA IDA: Inferred from direct assay	9038151	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12107182	GOA
enables purinergic nucleotide receptor activity	IDA IDA: Inferred from direct assay	9038151	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in bleb assembly	IDA IDA: Inferred from direct assay	12107182	GOA
involved in membrane depolarization	IDA IDA: Inferred from direct assay	9038151	GOA
involved in negative regulation of cell volume	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in plasma membrane phospholipid scrambling	IDA IDA: Inferred from direct assay	25651887	GOA
involved in pore complex assembly	IDA IDA: Inferred from direct assay	9038151	GOA
involved in pore complex assembly	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in positive regulation of bleb assembly	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in positive regulation of calcium ion transport into cytosol	IDA IDA: Inferred from direct assay	9038151	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22898868	GOA
involved in positive regulation of glycolytic process	IMP IMP: Inferred from mutant phenotype	22898868	GOA
involved in positive regulation of interleukin-1 beta production	IDA IDA: Inferred from direct assay	17036048	GOA
involved in positive regulation of monoatomic ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in purinergic nucleotide receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in response to ATP	IDA IDA: Inferred from direct assay	9038151	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane	IDA IDA: Inferred from direct assay	17785580	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12107182	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

P2RX7 Protein Structure

P2X_receptor

0
100
200
300
400
425 a.a.

Protein Preferred Names

Protein Names

P2X purinoceptor 7

ATP receptor	P2X7 receptor
P2Z receptor	purinergic receptor P2X, ligand gated ion channel, 7
purnergic receptor P2X 7

Related Diseases

Diseases

Alias

Q Fever

Infection Due To Coxiella Burnetii	Quadrilateral Fever
Query Fever	Nine Mile Fever
Coxiella Burnetii Fever	Q Fever Pneumonia
Coxiellosis	Pneumonia In Q Fever
Australian Q Fever	Balkan Grippe

Anxiety

Anxiety Disorder	Anxiety Disorders
Anxiety State	Anxieties
Anxiety Neurosis

Cystic Kidney Disease

Renal Cyst	Simple Renal Cyst
Kidney Cysts	Kidney Diseases, Cystic
Renal Cysts	Kidney Cyst
Cystic Kidney	Congenital Cystic Kidney Disease
Cystic Kidney Diseases	Bosniak 1 Cyst

Root Resorption

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Toxoplasmosis

Disseminated Toxoplasmosis	Multisystemic Disseminated Toxoplasmosis
Acquired Toxoplasmosis	Toxoplasmosis Disease Or Disorder
Infection By Toxoplasma Gondii	Toxoplasmal
Toxoplasma

Pulmonary Tuberculosis

Tuberculosis, Pulmonary	PTB
Tuberculosis Pulmonary

Leishmaniasis

Post-Kala-Azar Dermal Leishmaniasis	Post Kala-Azar Dermal Leishmaniasis
Post-Kala-Azar Dermal Infectious Disease By Leishmaniasis	Cutaneous Leishmaniasis
Kala-Azar	Visceral Leishmaniasis
Leishmaniasis, Cutaneous	Leishmaniasis, Visceral
Leishmania	Leishmania Infection
Leishmaniosis

Gout

Gouty Arthritis	Articular Gout
Gouty Arthropathy	Arthritis, Gouty
Arthritis Gouty	Idiopathic Gout
Idiopathic Gout, Unspecified Site	Gouty Bursitis
Uratic Arthritis	Gout Nos
Gouty	Gouty Diathesis

Mycobacterium Tuberculosis 1

Tuberculosis	Tuberculosis, Susceptibility To
Tuberculoma	Mycobacterium Tuberculosis, Susceptibility To, 1
Mtbs1	TB

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Migraine With Or Without Aura 1

Migraine	Migraine With Or Without Aura, Susceptibility To, 1
Migraine Disorder	Migraine Variant
Migraines	Migraine Disorders
Mgr1	Mgau
Ma	Migraine With Or Without Aura
Classic Migraine	Common Migraine
Disorder, Migraine	Headache Migraine
Headache Migrainous	Migraine Headache
Migraine Syndrome	Headache Including Migraine
Migraine, Susceptibility To

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia	B-Cell Chronic Lymphocytic Leukemia
CLL	B-Cell Chronic Lymphoid Leukemia
Chronic Lymphatic Leukemia	Chronic Lymphocytic Leukaemia
Lymphoplasmacytic Leukemia	Small Lymphocytic Lymphoma
Leukemia, Chronic Lymphatic	B-Cell Chronic Lymphocytic Leukaemia
Chronic Lymphatic Leukaemia	Lymphoplasmacytic Leukaemia
B Cell Chronic Lymphocytic Leukemia	Chronic B-Cell Lymphocytic Leukemia
Leukemia, Lymphocytic, Chronic	B-Cll
Chronic Lymphoid Leukemia	Leukemia Lymphocytic Chronic
Lymphoma Small Lymphocytic	Leukemia, Lymphocytic, Chronic, B-Cell

Bipolar Disorder

Bipolar Depression	Manic Disorder
Depression, Bipolar	Bipolar Disorder Manic Phase
Depressive-Manic Psych.	Manic Bipolar Affective Disorder
Manic Bipolar I Disorder	Manic Depression
Manic Depressive Disorder	Mixed Bipolar Disorder
Bipolar Affective Disorder	Bipolar Affective Psychosis
Bipolar Spectrum Disorder	Manic Depressive Illness
Depression Bipolar	Bipolar Disorder, Mixed
Major Affective Disorder	Major Affective Disorder 1
Major Affective Disorder 2

Pericarditis

Sarcoidosis 1

Sarcoidosis	Boeck Sarcoid
Besnier-Boeck-Schaumann Disease	SS1
Sarcoidosis, Susceptibility To, 1	Lymphogranulomatosis
Hodgkin Disease	Boeck'S Disease
Boeck'S Sarcoid	Schaumann'S Disease Or Syndrome
Hutchinson-Boeck Disease Or Syndrome

Mood Disorder

Mood Disorders

Episodic Mood Disorder

Tularemia

Francisella Tularensis Infection	Deerfly Fever
Lemming Fever	Ohara Disease
Pahvant Valley Plague	Rabbit Fever
Yatobyo

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09911	P2RX7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS09912	P2rx7 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS09913	P2RX7 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	P2RX7	VGNC	VGNC:68672
Canis familiaris	P2RX7	VGNC	VGNC:44212
Mus musculus	P2RX7	MGD	MGI:1339957
Rattus norvegicus	P2RX7	RGD	RGD:3241
Macaca mulatta	P2RX7	VGNC	VGNC:75735
Bos taurus	P2RX7	VGNC	VGNC:32522

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