ATP6V0E2

ATPase H+ transporting V0 subunit e2, the group of V-type ATPase subunits

Basic information

Region (hg38): 7:149872968-149891204

Previous symbols: [ "C7orf32", "ATP6V0E2L" ]

Links

ENSG00000171130 ∙ NCBI:155066 ∙ OMIM:611019 ∙ HGNC:21723 ∙ Uniprot:Q8NHE4 ∙ 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 ATP6V0E2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATP6V0E2 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						0
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	10	0	0

Variants in ATP6V0E2

This is a list of pathogenic ClinVar variants found in the ATP6V0E2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-149874004-C-T		not specified	Uncertain significance (Sep 25, 2023)
7-149874025-T-A		not specified	Uncertain significance (Mar 15, 2024)
7-149874034-C-G		not specified	Uncertain significance (Jan 23, 2024)
7-149874057-C-T		not specified	Uncertain significance (Sep 16, 2021)
7-149874102-T-C		not specified	Uncertain significance (Mar 31, 2024)
7-149874127-G-T		not specified	Uncertain significance (Mar 30, 2024)
7-149874129-A-G		not specified	Uncertain significance (Jan 08, 2024)
7-149874130-T-C		not specified	Uncertain significance (Aug 02, 2021)
7-149874159-C-T		not specified	Uncertain significance (Jul 27, 2021)
7-149875609-C-T		not specified	Uncertain significance (Dec 14, 2023)
7-149875620-G-A		not specified	Uncertain significance (May 27, 2022)
7-149875627-C-T		not specified	Uncertain significance (Jul 05, 2023)
7-149875638-T-C		not specified	Uncertain significance (May 15, 2024)
7-149879399-C-G		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ATP6V0E2	protein_coding	protein_coding	ENST00000421974	3	7728

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.295	0.632	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.562	95	112	0.850	0.00000579	1280
Missense in Polyphen		19	29.405	0.64615		281
Synonymous	-0.908	61	52.6	1.16	0.00000290	497
Loss of Function	1.37	1	3.92	0.255	1.71e-7	40

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. {ECO:0000250}.
• Pathway: Synaptic vesicle cycle - Homo sapiens (human);Phagosome - Homo sapiens (human);Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human);Oxidative phosphorylation - Homo sapiens (human);Collecting duct acid secretion - Homo sapiens (human);Vibrio cholerae infection - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);Signal Transduction;Transferrin endocytosis and recycling;Ion channel transport;Insulin receptor recycling;Signaling by Insulin receptor;ROS, RNS production in phagocytes;Innate Immune System;Immune System;Transport of small molecules;Iron uptake and transport;Signaling by Receptor Tyrosine Kinases (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.182
• ghis: 0.441

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Atp6v0e2

Gene ontology

• Biological process: vacuolar acidification;insulin receptor signaling pathway;ATP hydrolysis coupled proton transport;regulation of macroautophagy;transferrin transport;ion transmembrane transport;transmembrane transport;proton transmembrane transport
• Cellular component: endosome membrane;integral component of membrane;phagocytic vesicle membrane;proton-transporting V-type ATPase, V0 domain
• Molecular function: ATPase coupled ion transmembrane transporter activity;proton-transporting ATPase activity, rotational mechanism