ENTPD1 Chromosome 10
Ectonucleoside triphosphate diphosphohydrolase 1
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What This Gene Does
The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"CD molecules|Ectonucleoside triphosphate diphosphohydrolase family"
Locus Type
gene with protein product
Location
10q24.1
Ensembl
ENSG00000138185
Associated Conditions (13)
Hereditary spastic paraplegia 64
Hereditary spastic paraplegia
Microcephaly
Global developmental delay
Polymicrogyria
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Sarcoma
Inborn genetic diseases
Familial cancer of breast
Colon adenocarcinoma
Lung cancer
Gastric cancer
Key Variants
RS139646807
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 64, Hereditary spastic paraplegia, Hereditary spastic paraplegia 64
Health Risk
RS146889178
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 64, Hereditary spastic paraplegia, Hereditary spastic paraplegia 64
Health Risk
RS150772804
Conflicting classifications of pathogenicity
Microcephaly, Global developmental delay, Polymicrogyria
Health Risk
RS192954755
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 64, Clear cell carcinoma of kidney, Malignant tumor of esophagus
Health Risk
RS200247284
Conflicting classifications of pathogenicity
Health Risk
RS2494328715
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2494403988
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64
Health Risk
RS373236811
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Familial cancer of breast, Inborn genetic diseases
Health Risk
RS766776589
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 64, Inborn genetic diseases, Hereditary spastic paraplegia 64
Health Risk
RS780312005
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 64, Inborn genetic diseases, Hereditary spastic paraplegia 64
Health Risk
RS780370619
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 64, Hereditary spastic paraplegia, Hereditary spastic paraplegia 64
Health Risk
RS1412393736
Likely pathogenic
Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139646807 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia, Hereditary spastic paraplegia 64 |
| RS146889178 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia, Hereditary spastic paraplegia 64 |
| RS150772804 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, Global developmental delay, Polymicrogyria |
| RS192954755 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 64, Clear cell carcinoma of kidney, Malignant tumor of esophagus |
| RS200247284 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2494328715 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2494403988 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |
| RS373236811 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Familial cancer of breast, Inborn genetic diseases |
| RS766776589 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 64, Inborn genetic diseases, Hereditary spastic paraplegia 64 |
| RS780312005 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 64, Inborn genetic diseases, Hereditary spastic paraplegia 64 |
| RS780370619 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia, Hereditary spastic paraplegia 64 |
| RS1412393736 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |
| RS1309641888 | Health Risk | Pathogenic | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |
| RS1379388267 | Health Risk | Pathogenic | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |
| RS149326648 | Health Risk | Pathogenic | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |
| RS1566229309 | Health Risk | Pathogenic | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |
| RS1590126497 | Health Risk | Pathogenic | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |
| RS2494454909 | Health Risk | Pathogenic | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |
| RS587777200 | Health Risk | Pathogenic | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |
| RS766222251 | Health Risk | Pathogenic | Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |