ATP6V0E2 ATPase H+ transporting V0 subunit e2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP6V0E2provided by HGNC
Official Full Name: ATPase H+ transporting V0 subunit e2provided by HGNC
Primary source: HGNC:HGNC:21723
See related: Ensembl:ENSG00000171130 MIM:611019; AllianceGenome:HGNC:21723
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C7orf32; ATP6V0E2L
Summary: Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008]
Expression: Broad expression in brain (RPKM 57.2), kidney (RPKM 22.7) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (149872964..149880713)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (151055071..151062678)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (149570053..149577802)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The identification of this novel form of the e-subunit lends further support to the hypothesis that subunit differences may play a key role in the structure, site and function of H(+)-ATPases within the cell.[ATPV0E2]
Title: Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-15316 (e-PCR)
- UniSTS:10040

GDB:1318310 (e-PCR)
- UniSTS:74819

HSC185_(GAP_113_G) (e-PCR)
- UniSTS:255210

A002C21 (e-PCR)
- UniSTS:17917

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase-coupled ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables proton-transporting ATPase activity, rotational mechanism	IGI Inferred from Genetic Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in proton transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of macroautophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vacuolar acidification	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
part_of vacuolar proton-transporting V-type ATPase, V0 domain	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: V-type proton ATPase subunit e 2

Names: H+-ATPase e2 subunit; V-ATPase subunit e 2; V-ATPase subunit e1; lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2; vacuolar proton pump subunit e 2; vacuolar proton-ATPase subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001100592.3 → NP_001094062.2 V-type proton ATPase subunit e 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) has a longer and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC093458

Consensus CDS

CCDS47742.2

Related

ENSP00000411672.3, ENST00000421974.7

Conserved Domains (1) summary

pfam05493
Location:9 → 51

ATP_synt_H; ATP synthase subunit H
NM_001289990.2 → NP_001276919.2 V-type proton ATPase subunit e 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded protein (isoform 3) has a longer and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC093458

Consensus CDS

CCDS94229.1

Related

ENSP00000417939.1, ENST00000479613.5

Conserved Domains (1) summary

pfam05493
Location:9 → 67

ATP_synt_H; ATP synthase subunit H
NM_001367788.1 → NP_001354717.1 V-type proton ATPase subunit e 2 isoform 4

Status: VALIDATED

Source sequence(s)

AC093458
NM_001367789.2 → NP_001354718.2 V-type proton ATPase subunit e 2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (6), as well as variant 1, encodes isoform 1.

Source sequence(s)

AC093458

Consensus CDS

CCDS55181.2

UniProtKB/Swiss-Prot

A2T863, A2T8L7, B5MDP5, J3KQW7, Q6MZW1, Q75L47, Q7Z4R7, Q8N7I8, Q8NHE4

Related

ENSP00000475645.1, ENST00000464662.5

Conserved Domains (1) summary

pfam05493
Location:9 → 67

ATP_synt_H; ATP synthase subunit H
NM_001367791.1 → NP_001354720.1 V-type proton ATPase subunit e 2 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (7), as well as variants 8-13, encodes isoform 5.

Source sequence(s)

AC093458
NM_001367792.1 → NP_001354721.1 V-type proton ATPase subunit e 2 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (8), as well as variants 7 and 9-13, encodes isoform 5.

Source sequence(s)

AC093458
NM_001367793.1 → NP_001354722.1 V-type proton ATPase subunit e 2 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (9), as well as variants 7, 8, and 10-13, encodes isoform 5.

Source sequence(s)

AC093458
NM_001367794.1 → NP_001354723.1 V-type proton ATPase subunit e 2 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (10), as well as variants 7-9 and 11-13, encodes isoform 5.

Source sequence(s)

AC093458, HY134292
NM_001367795.1 → NP_001354724.1 V-type proton ATPase subunit e 2 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (11), as well as variants 7-10, 12, and 13, encodes isoform 5.

Source sequence(s)

AC093458
NM_001367796.1 → NP_001354725.1 V-type proton ATPase subunit e 2 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (12), as well as variants 7-11 and 13, encodes isoform 5.

Source sequence(s)

AC093458, BX488744
NM_001367797.1 → NP_001354726.1 V-type proton ATPase subunit e 2 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (13), as well as variants 7-12, encodes isoform 5.

Source sequence(s)

AC093458, DA066294
NM_145230.4 → NP_660265.3 V-type proton ATPase subunit e 2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the predominantly occurring transcript and it encodes isoform 1. Variants 1 and 6 both encode the same isoform (1).

Source sequence(s)

AC093458

Consensus CDS

CCDS55181.2

UniProtKB/Swiss-Prot

A2T863, A2T8L7, B5MDP5, J3KQW7, Q6MZW1, Q75L47, Q7Z4R7, Q8N7I8, Q8NHE4

Related

ENSP00000396148.2, ENST00000425642.3

Conserved Domains (1) summary

pfam05493
Location:9 → 67

ATP_synt_H; ATP synthase subunit H

RNA

NR_110612.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK057700, AK094602, AK172725, BE677432