chr12:121132876:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,570,679-121,625,835 |
| hg38 | chr12:121,132,876-121,188,032 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Chlamydia Infections | NA | BeFree | Detail | |
| 0.002 | chorioretinitis | NA | GAD | Detail | |
| <0.001 | colitis | NA | BeFree | Detail | |
| <0.001 | Crohn Disease | NA | BeFree | Detail | |
| 0.009 | Mental Depression | NA | BeFree,GAD | Detail | |
| 0.002 | depressive disorder | NA | BeFree | Detail | |
| <0.001 | Diabetes | In the Prevalence, Prediction, and Prevention of Diabetes in Botnia study, the m... | BeFree | 25719930 | Detail |
| <0.001 | diabetes mellitus | In the Prevalence, Prediction, and Prevention of Diabetes in Botnia study, the m... | BeFree | 25719930 | Detail |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | Experimental Autoimmune Encephalomyelitis | NA | BeFree | Detail | |
| 0.120 | Epilepsy, Temporal Lobe | NA | CTD_human | Detail | |
| <0.001 | Glioma | Moreover, high millimolar concentrations of ATP increased IL-8 and MCP-1 release... | BeFree | 25445541 | Detail |
| <0.001 | Glioma | Taken together, our findings imply the possibility of promoting proliferation an... | BeFree | 25839324 | Detail |
| 0.003 | glomerulonephritis | NA | BeFree,LHGDN | Detail | |
| 0.002 | nodular goiter | NA | GAD | Detail | |
| 0.002 | Graft-vs-Host Disease | NA | GAD | Detail | |
| <0.001 | Heart failure | NA | BeFree | Detail | |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| <0.001 | hyperinsulinism | In the Prevalence, Prediction, and Prevention of Diabetes in Botnia study, the m... | BeFree | 25719930 | Detail |
| 0.002 | Hyperparathyroidism, Secondary | NA | GAD | Detail | |
| 0.003 | Hyperplasia | NA | LHGDN | Detail | |
| 0.003 | Hypertensive disease | NA | BeFree,GAD | Detail | |
| <0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| <0.001 | Kidney Diseases | NA | BeFree | Detail | |
| <0.001 | Polycystic Kidney Diseases | NA | BeFree | Detail | |
| 0.008 | leukemia | NA | BeFree,GAD,LHGDN | Detail | |
| 0.130 | chronic lymphocytic leukemia | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.002 | lymphoid leukemia | NA | GAD | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| 0.002 | depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.009 | Mental Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| <0.001 | myeloid leukemia | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.009 | Lupus Erythematosus, Systemic | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Marijuana Abuse | NA | GAD | Detail | |
| 0.003 | melanoma | NA | LHGDN | Detail | |
| 0.003 | multiple myeloma | NA | BeFree,GAD | Detail | |
| 0.120 | multiple sclerosis | NA | BeFree,CTD_human | Detail | |
| <0.001 | Neoplasm Metastasis | These data indicate that P2X7 stimulates cell invasion and metastasis in prostat... | BeFree | 25486274 | Detail |
| <0.001 | Neuralgia | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| 0.001 | osteoporosis | NA | BeFree | Detail | |
| <0.001 | osteosarcoma | Trophic activity of human P2X7 receptor isoforms A and B in osteosarcoma. | BeFree | 25226385 | Detail |
| <0.001 | Pain | Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensit... | BeFree | 25472448 | Detail |
| 0.002 | Psychoses, Substance-Induced | NA | GAD | Detail | |
| <0.001 | retinal degeneration | NA | BeFree | Detail | |
| 0.003 | schizophrenia | NA | BeFree,GAD | Detail | |
| <0.001 | Septicemia | Although the role of purinergic receptor signaling in regulating inflammation an... | BeFree | 25318479 | Detail |
| <0.001 | Septicemia | Mice lacking P2X7 had increased susceptibility to polymicrobial sepsis, which wa... | BeFree | 25464855 | Detail |
| 0.003 | Skin Neoplasms | NA | LHGDN | Detail | |
| <0.001 | post-traumatic stress disorder | NA | BeFree | Detail | |
| 0.005 | Thyroid Neoplasm | NA | GAD,LHGDN | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | toxoplasmosis | NA | BeFree | Detail | |
| 0.002 | Toxoplasmosis, Congenital | NA | GAD | Detail | |
| 0.018 | tuberculosis | Pulmonary infection with hypervirulent Mycobacteria reveals a crucial role for t... | BeFree,GAD,LHGDN | 24991816 | Detail |
| 0.007 | Tuberculosis, Pulmonary | A meta-analysis of P2X7 gene-762T/C polymorphism and pulmonary tuberculosis susc... | BeFree,GAD | 24810548 | Detail |
| 0.002 | Unipolar Depression | NA | BeFree | Detail | |
| <0.001 | Polycystic Kidney, Autosomal Dominant | NA | BeFree | Detail | |
| <0.001 | Depressive Symptoms | NA | BeFree | Detail | |
| <0.001 | Pancreatitis, Chronic | NA | BeFree | Detail | |
| <0.001 | Chronic pain | NA | BeFree | Detail | |
| <0.001 | Myocardial Ischemia | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of bone | Together, our results suggest the distinct roles of ATP and adenosine released b... | BeFree | 24837364 | Detail |
| <0.001 | Recurrent major depressive episodes | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | Accelerated tumor progression in mice lacking the ATP receptor P2X7. | BeFree | 25542861 | Detail |
| 0.002 | Papillary and follicular adenocarcinoma | NA | GAD | Detail | |
| <0.001 | Inflammatory pain | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Papillary thyroid carcinoma | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of lung | Until now, no data regarding P2X7 expression and polymorphisms in lung cancer ha... | BeFree,GAD | 25178922 | Detail |
| <0.001 | age related macular degeneration | NA | BeFree | Detail | |
| <0.001 | Sepsis | Although the role of purinergic receptor signaling in regulating inflammation an... | BeFree | 25318479 | Detail |
| <0.001 | Sepsis | Mice lacking P2X7 had increased susceptibility to polymicrobial sepsis, which wa... | BeFree | 25464855 | Detail |
| <0.001 | Impaired glucose tolerance | Both male and female P2x7-C57 mice demonstrated impaired glucose tolerance compa... | BeFree | 25719930 | Detail |
| <0.001 | Malignant Bone Neoplasm | The role of the P2X7 receptor (P2X7R) is being explored with intensive interest ... | BeFree | 25591582 | Detail |
| <0.001 | Solid tumour | Understanding the roles of the P2X7 receptor in solid tumour progression and the... | BeFree | 25450340 | Detail |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | P2X7 mediates ATP-driven invasiveness in prostate cancer cells. | BeFree | 25486274 | Detail |
| <0.001 | Hematopoietic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Chronic Kidney Insufficiency | NA | BeFree | Detail | |
| <0.001 | Metabolic syndrome X | NA | BeFree | Detail | |
| <0.001 | Neurodegenerative Disorders | NA | BeFree | Detail | |
| 0.003 | Mood Disorders | NA | BeFree | Detail | |
| <0.001 | Thyroid carcinoma | A polymorphism in exon 13 of the P2X7 receptor gene at the +1513 position (rs375... | BeFree | 25178922 | Detail |
| <0.001 | Osteosarcoma of bone | Trophic activity of human P2X7 receptor isoforms A and B in osteosarcoma. | BeFree | 25226385 | Detail |
| <0.001 | Osteosarcoma of bone | The role of the P2X7 receptor (P2X7R) is being explored with intensive interest ... | BeFree | 25591582 | Detail |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | P2X7 mediates ATP-driven invasiveness in prostate cancer cells. | BeFree | 25486274 | Detail |
| <0.001 | breast carcinoma | Together, our results suggest the distinct roles of ATP and adenosine released b... | BeFree | 24837364 | Detail |
| 0.001 | Tuberculosis, extrapulmonary | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | Until now, no data regarding P2X7 expression and polymorphisms in lung cancer ha... | BeFree | 25178922 | Detail |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Infectious disease of lung | Pulmonary infection with hypervirulent Mycobacteria reveals a crucial role for t... | BeFree | 24991816 | Detail |
| <0.001 | Ischemic stroke | NA | BeFree | Detail | |
| 0.004 | major depressive disorder | NA | BeFree,GAD | Detail | |
| <0.001 | Inflammatory disorder | Pharmacologic block of P2X purinoceptor 7 and improved stress tolerance may repr... | BeFree | 25730877 | Detail |
| <0.001 | Chronic esophagitis | These results suggest that chronic esophagitis increases mRNA expressions of P2X... | BeFree | 25336328 | Detail |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| <0.001 | Chronic Kidney Diseases | NA | BeFree | Detail | |
| <0.001 | Severe Sepsis | NA | BeFree | Detail | |
| <0.001 | MAJOR AFFECTIVE DISORDER 2 | NA | BeFree | Detail | |
| <0.001 | NEUROTICISM | NA | BeFree | Detail | |
| <0.001 | MAJOR AFFECTIVE DISORDER 1 | NA | BeFree | Detail | |
| <0.001 | MAJOR AFFECTIVE DISORDER 4 | NA | BeFree | Detail | |
| <0.001 | MAJOR AFFECTIVE DISORDER 5 | NA | BeFree | Detail | |
| <0.001 | MAJOR AFFECTIVE DISORDER 6 | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | Prognostic value of purinergic P2X7 receptor expression in patients with hepatoc... | BeFree | 25722111 | Detail |
| <0.001 | Major affective disorder 7 | NA | BeFree | Detail | |
| <0.001 | MAJOR AFFECTIVE DISORDER 8 | NA | BeFree | Detail | |
| <0.001 | MAJOR AFFECTIVE DISORDER 9 | NA | BeFree | Detail | |
| <0.001 | Mechanical Allodynia | NA | BeFree | Detail | |
| <0.001 | aggressive cancer | NA | BeFree | Detail | |
| <0.001 | Ischemic Cerebrovascular Accident | NA | BeFree | Detail | |
| 0.003 | myelodysplastic syndrome | NA | LHGDN | Detail | |
| <0.001 | Intracranial glioma | Taken together, our findings imply the possibility of promoting proliferation an... | BeFree | 25839324 | Detail |
| <0.001 | acute pancreatitis | NA | BeFree | Detail | |
| 0.003 | adenocarcinoma | NA | LHGDN | Detail | |
| <0.001 | agoraphobia | NA | BeFree | Detail | |
| <0.001 | Alzheimer's disease | In conclusion, our data show a strong negative association between the P2X7R 489... | BeFree | 25456845 | Detail |
| 0.001 | amyotrophic lateral sclerosis | NA | BeFree | Detail | |
| 0.003 | Anxiety Disorders | NA | BeFree,GAD | Detail | |
| 0.006 | rheumatoid arthritis | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | asthma | NA | BeFree | Detail | |
| <0.001 | Bacteremia | Thus, regulation of Tfh cells by P2X7 activity is important for mucosal coloniza... | BeFree | 25464855 | Detail |
| 0.013 | bipolar disorder | NA | BeFree,GAD | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| <0.001 | Bone Diseases | Finally, we highlight how targeting P2X7R may have therapeutic potential in bone... | BeFree | 25591582 | Detail |
| <0.001 | Malignant neoplasm of breast | Together, our results suggest the distinct roles of ATP and adenosine released b... | BeFree | 24837364 | Detail |
| <0.001 | Malignant neoplasm of thyroid | A polymorphism in exon 13 of the P2X7 receptor gene at the +1513 position (rs375... | BeFree | 25178922 | Detail |
| <0.001 | Non-small cell lung carcinoma | P2X7 protein expression and polymorphism in non-small cell lung cancer (NSCLC). | BeFree | 25178922 | Detail |
| 0.002 | Carcinoma, Papillary | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the Prevalence, Prediction, and Prevention of Diabetes in Botnia study, the minor allele in the m... | DisGeNET | Detail |
| In the Prevalence, Prediction, and Prevention of Diabetes in Botnia study, the minor allele in the m... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Moreover, high millimolar concentrations of ATP increased IL-8 and MCP-1 release by the glioma cells... | DisGeNET | Detail |
| Taken together, our findings imply the possibility of promoting proliferation and targeting ability ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the Prevalence, Prediction, and Prevention of Diabetes in Botnia study, the minor allele in the m... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These data indicate that P2X7 stimulates cell invasion and metastasis in prostate cancer cells via s... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Trophic activity of human P2X7 receptor isoforms A and B in osteosarcoma. | DisGeNET | Detail |
| Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Although the role of purinergic receptor signaling in regulating inflammation and sepsis has been ad... | DisGeNET | Detail |
| Mice lacking P2X7 had increased susceptibility to polymicrobial sepsis, which was rescued by Tfh cel... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Pulmonary infection with hypervirulent Mycobacteria reveals a crucial role for the P2X7 receptor in ... | DisGeNET | Detail |
| A meta-analysis of P2X7 gene-762T/C polymorphism and pulmonary tuberculosis susceptibility. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Together, our results suggest the distinct roles of ATP and adenosine released by osteocytes and the... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Accelerated tumor progression in mice lacking the ATP receptor P2X7. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Until now, no data regarding P2X7 expression and polymorphisms in lung cancer have been published; b... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Although the role of purinergic receptor signaling in regulating inflammation and sepsis has been ad... | DisGeNET | Detail |
| Mice lacking P2X7 had increased susceptibility to polymicrobial sepsis, which was rescued by Tfh cel... | DisGeNET | Detail |
| Both male and female P2x7-C57 mice demonstrated impaired glucose tolerance compared with matched P2x... | DisGeNET | Detail |
| The role of the P2X7 receptor (P2X7R) is being explored with intensive interest in the context of no... | DisGeNET | Detail |
| Understanding the roles of the P2X7 receptor in solid tumour progression and therapeutic perspective... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| P2X7 mediates ATP-driven invasiveness in prostate cancer cells. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A polymorphism in exon 13 of the P2X7 receptor gene at the +1513 position (rs3751143>Glu496Ala subst... | DisGeNET | Detail |
| Trophic activity of human P2X7 receptor isoforms A and B in osteosarcoma. | DisGeNET | Detail |
| The role of the P2X7 receptor (P2X7R) is being explored with intensive interest in the context of no... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| P2X7 mediates ATP-driven invasiveness in prostate cancer cells. | DisGeNET | Detail |
| Together, our results suggest the distinct roles of ATP and adenosine released by osteocytes and the... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Until now, no data regarding P2X7 expression and polymorphisms in lung cancer have been published; b... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Pulmonary infection with hypervirulent Mycobacteria reveals a crucial role for the P2X7 receptor in ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Pharmacologic block of P2X purinoceptor 7 and improved stress tolerance may represent novel treatmen... | DisGeNET | Detail |
| These results suggest that chronic esophagitis increases mRNA expressions of P2X3 and P2X7 receptors... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Prognostic value of purinergic P2X7 receptor expression in patients with hepatocellular carcinoma af... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Taken together, our findings imply the possibility of promoting proliferation and targeting ability ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, our data show a strong negative association between the P2X7R 489C>T polymorphism and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thus, regulation of Tfh cells by P2X7 activity is important for mucosal colonization, which in turn ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Finally, we highlight how targeting P2X7R may have therapeutic potential in bone disease and cancer. | DisGeNET | Detail |
| Together, our results suggest the distinct roles of ATP and adenosine released by osteocytes and the... | DisGeNET | Detail |
| A polymorphism in exon 13 of the P2X7 receptor gene at the +1513 position (rs3751143>Glu496Ala subst... | DisGeNET | Detail |
| P2X7 protein expression and polymorphism in non-small cell lung cancer (NSCLC). | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386602118 dbSNP
- Genome
- hg38
- Position
- chr12:121,132,876-121,188,032
- Variant Type
- snv
Genome browser