ENTPD8

ectonucleoside triphosphate diphosphohydrolase 8, the group of Ectonucleoside triphosphate diphosphohydrolase family

Basic information

Region (hg38): 9:137434364-137441816

Links

ENSG00000188833 ∙ NCBI:377841 ∙ OMIM:616748 ∙ HGNC:24860 ∙ Uniprot:Q5MY95 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ENTPD8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENTPD8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			53	3	1	57
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	53	3	2

Variants in ENTPD8

This is a list of pathogenic ClinVar variants found in the ENTPD8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-137434967-G-C		not specified	Uncertain significance (Oct 13, 2023)
9-137435012-T-G		not specified	Uncertain significance (Feb 10, 2022)
9-137435020-C-T		not specified	Uncertain significance (Apr 01, 2024)
9-137435026-T-C		not specified	Uncertain significance (Jun 02, 2023)
9-137435030-C-A		not specified	Uncertain significance (Dec 08, 2023)
9-137435044-G-A		not specified	Uncertain significance (Aug 10, 2021)
9-137435056-G-A		not specified	Uncertain significance (Jun 22, 2023)
9-137435077-A-G		not specified	Uncertain significance (Jan 23, 2023)
9-137435226-G-C		not specified	Uncertain significance (Oct 04, 2022)
9-137435234-C-A		not specified	Uncertain significance (Oct 06, 2021)
9-137435248-C-T		not specified	Likely benign (Jun 16, 2024)
9-137435275-T-G		not specified	Uncertain significance (Sep 22, 2023)
9-137435301-C-T		not specified	Uncertain significance (Mar 08, 2024)
9-137435304-A-G		not specified	Uncertain significance (Oct 25, 2023)
9-137435760-T-C		not specified	Uncertain significance (Sep 25, 2023)
9-137435765-G-A		not specified	Uncertain significance (Feb 06, 2024)
9-137435807-G-A		not specified	Uncertain significance (Sep 15, 2021)
9-137435828-G-A		not specified	Uncertain significance (Dec 11, 2023)
9-137436005-G-A			Benign (Feb 26, 2018)
9-137436014-T-C		not specified	Uncertain significance (Oct 05, 2023)
9-137436032-G-C		not specified	Uncertain significance (Oct 18, 2021)
9-137436057-C-T		not specified	Uncertain significance (Jun 29, 2023)
9-137436101-C-T		not specified	Likely benign (Dec 15, 2022)
9-137436102-G-A		not specified	Uncertain significance (May 29, 2024)
9-137436114-C-T		not specified	Uncertain significance (Jul 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENTPD8	protein_coding	protein_coding	ENST00000371506	9	7453

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.04e-11	0.160	125387	1	230	125618	0.000920

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.229	321	310	1.04	0.0000194	3151
Missense in Polyphen		88	89.841	0.97951		1033
Synonymous	-0.0334	149	148	1.00	0.0000103	1059
Loss of Function	0.705	19	22.6	0.840	0.00000105	235

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00156	0.00156
Ashkenazi Jewish	0.000100	0.0000994
East Asian	0.000655	0.000653
Finnish	0.00	0.00
European (Non-Finnish)	0.00144	0.00142
Middle Eastern	0.000655	0.000653
South Asian	0.000133	0.000131
Other	0.000984	0.000979

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Canalicular ectonucleoside NTPDase responsible for the main hepatic NTPDase activity. Ectonucleoside NTPDases catalyze the hydrolysis of gamma- and beta-phosphate residues of nucleotides, playing a central role in concentration of extracellular nucleotides. Has activity toward ATP, ADP, UTP and UDP, but not toward AMP. {ECO:0000269|PubMed:16752921, ECO:0000269|PubMed:17095758}.
• Pathway: Pyrimidine metabolism - Homo sapiens (human);Purine metabolism - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Purine Nucleoside Phosphorylase Deficiency;Mercaptopurine Action Pathway;Azathioprine Action Pathway;Xanthine Dehydrogenase Deficiency (Xanthinuria);Adenylosuccinate Lyase Deficiency;AICA-Ribosiduria;Thioguanine Action Pathway;Adenine phosphoribosyltransferase deficiency (APRT);Mitochondrial DNA depletion syndrome;Myoadenylate deaminase deficiency;Purine Metabolism;Molybdenum Cofactor Deficiency;Adenosine Deaminase Deficiency;Gout or Kelley-Seegmiller Syndrome;Lesch-Nyhan Syndrome (LNS);Xanthinuria type I;Xanthinuria type II;Nucleobase catabolism;Metabolism of nucleotides;Phosphate bond hydrolysis by NTPDase proteins;Purine metabolism;Metabolism;Pyrimidine metabolism (Consensus)

Recessive Scores

• pRec: 0.142

Intolerance Scores

• loftool: 0.864
• rvis_EVS: -1.06
• rvis_percentile_EVS: 7.48

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.170
• ghis: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0408

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Entpd8
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: nucleoside monophosphate biosynthetic process;nucleoside diphosphate biosynthetic process;nucleobase-containing small molecule catabolic process
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: ATP binding;nucleoside-diphosphatase activity;nucleoside-triphosphatase activity;metal ion binding;dATP phosphohydrolase activity;dCTP phosphohydrolase activity;dUTP phosphohydrolase activity;dTTP phosphohydrolase activity;GTP phosphohydrolase activity;8-oxo-dGTP phosphohydrolase activity;dGTP phosphohydrolase activity