ENTPD7
protein-codingectonucleoside triphosphate diphosphohydrolase 7, the group of Ectonucleoside triphosphate diphosphohydrolase family
Gene summary
This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside triphosphates (UTP, GTP, and CTP) to nucleoside monophosphates as part of a purinergic signaling pathway. It contains two transmembrane domains at the N- and C-termini and a large, hydrophobic catalytic domain located in between. This gene affects oxidative stress as well as DNA damage and is a mediator of senescence. [provided by RefSeq, Mar 2017]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~51.7 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 ENTPD7 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020354.5. 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 | 1 | 1 | ||||
| missense | 77 | 1 | 78 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 79 | 2 | 0 | 81 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_065087.1 | 12 | MANE Select | |
| Ensembl | ENSP00000359520.4 | 12 | MANE Select | |
| RefSeq | NP_001336891.1 | 12 | Standard | |
| RefSeq | NP_001336892.1 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Nucleobase catabolism
- Metabolism of nucleotides
- Phosphate bond hydrolysis by NTPDase proteins
- Metabolism
Biological Process
- nucleobase-containing small molecule catabolic process
Molecular Function
- nucleoside-triphosphatase activity
- metal ion binding
Cellular Component
- integral component of membrane
- endocytic vesicle membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000370489
- Coding exons
- 12
- Length
- 46735
- Individuals with no LoFs
- 125466
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 280
- Defined
- 125748
- p
- 0.00112
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.878 | 294 | 340 | 0.866 | 0.0000188 | 3899 |
| Missense (PolyPhen) | 81 | 106.75 | 0.75879 | 1239 | ||
| Synonymous | -0.593 | 135 | 127 | 1.07 | 0.00000662 | 1223 |
| Loss of Function | 2.18 | 23 | 37.4 | 0.616 | 0.00000246 | 361 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00043 | 0.00043 | rare |
| Latino/Admixed American | 0.00023 | 0.00023 | rare |
| Ashkenazi Jewish | 0.0024 | 0.0023 | notable |
| East Asian | 0.00044 | 0.00044 | rare |
| Finnish | 0.0029 | 0.0028 | notable |
| European (Non-Finnish) | 0.0012 | 0.0012 | notable |
| South Asian | 0.0010 | 0.0010 | notable |
| Other | 0.0012 | 0.0011 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Preferentially hydrolyzes nucleoside 5'-triphosphates. The order of activity with respect to possible substrates is UTP > GTP > CTP.;
Recessive Scores
- pRec
- 0.144
Intolerance Scores
- LoFtool
- 0.882
- RVIS EVS
- 0.11
- RVIS percentile EVS
- 62
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.161
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |