ENTPD2
protein-codingectonucleoside triphosphate diphosphohydrolase 2, the group of Ectonucleoside triphosphate diphosphohydrolase family
Gene summary
The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
- CD39L1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~6.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ENTPD2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_203468.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 5 | 2 | 1 | 8 | ||
| missense | 97 | 4 | 2 | 103 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 0 | 1 | 107 | 6 | 3 | 117 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_982293.1 | 9 | MANE Select | |
| Ensembl | ENSP00000347213.2 | 9 | MANE Select | |
| RefSeq | NP_001237.1 | 9 | Standard | |
| Ensembl | ENSP00000312494.5 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Purine metabolism - Homo sapiens (human)
- Taste transduction - Homo sapiens (human)
- Nucleobase catabolism
- Metabolism of nucleotides
- Phosphate bond hydrolysis by NTPDase proteins
Biological Process
- G protein-coupled receptor signaling pathway
- purine ribonucleoside diphosphate catabolic process
- platelet activation
- nucleobase-containing small molecule catabolic process
Molecular Function
- ATP binding
- nucleoside-diphosphatase activity
- nucleoside-triphosphatase activity
Cellular Component
- basement membrane
- endoplasmic reticulum membrane
- plasma membrane
- integral component of membrane
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000355097
- Coding exons
- 9
- Length
- 5948
- Individuals with no LoFs
- 125593
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 64
- Defined
- 125658
- p
- 0.000259
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.659 | 299 | 269 | 1.11 | 0.0000154 | 3125 |
| Missense (PolyPhen) | 110 | 102.81 | 1.0699 | 1330 | ||
| Synonymous | -0.453 | 123 | 117 | 1.05 | 0.00000694 | 1074 |
| Loss of Function | -0.0940 | 21 | 20.5 | 1.02 | 0.00000114 | 209 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.00012 | 0.000087 | rare |
| Ashkenazi Jewish | 0.00031 | 0.00030 | rare |
| East Asian | 0.00016 | 0.00016 | rare |
| Finnish | 0.00028 | 0.00028 | rare |
| European (Non-Finnish) | 0.00040 | 0.00034 | rare |
| South Asian | 0.00020 | 0.00020 | rare |
| Other | 0.00017 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Hydrolyzes ADP only to a marginal extent. The order of activity with different substrates is ATP > GTP > CTP = ITP > UTP >> ADP = UDP.;
Recessive Scores
- pRec
- 0.155
Intolerance Scores
- LoFtool
- 0.897
- RVIS EVS
- 0.2
- RVIS percentile EVS
- 67.3
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.365
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |