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

Gene ID: 155066, updated on 23-Nov-2023

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
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Genomic context

See ATP6V0E2 in Genome Data Viewer
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_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:149479128-149479704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:149480282-149480858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149480859-149481434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149482621-149483120 Neighboring gene Sharpr-MPRA regulatory region 4172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:149484857-149485446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149487626-149488414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149496913-149497414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149497415-149497914 Neighboring gene zinc finger protein 467 Neighboring gene SCO-spondin, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:149552405-149552958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:149552959-149553510 Neighboring gene ATP6V0E2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149570857-149571825 Neighboring gene zinc finger protein 862 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:149604113-149604612 Neighboring gene actin related protein 3C Neighboring gene uncharacterized LOC124901772 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:149697909-149698096 Neighboring gene NANOG hESC enhancer GRCh37_chr7:149721691-149722215 Neighboring gene NANOG hESC enhancer GRCh37_chr7:149728774-149729275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:149732655-149733170 Neighboring gene uncharacterized LOC100134040

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

  1. NM_001100592.3NP_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:951
    ATP_synt_H; ATP synthase subunit H
  2. NM_001289990.2NP_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:967
    ATP_synt_H; ATP synthase subunit H
  3. NM_001367788.1NP_001354717.1  V-type proton ATPase subunit e 2 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC093458
  4. NM_001367789.2NP_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:967
    ATP_synt_H; ATP synthase subunit H
  5. NM_001367791.1NP_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
  6. NM_001367792.1NP_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
  7. NM_001367793.1NP_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
  8. NM_001367794.1NP_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
  9. NM_001367795.1NP_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
  10. NM_001367796.1NP_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
  11. NM_001367797.1NP_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
  12. NM_145230.4NP_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:967
    ATP_synt_H; ATP synthase subunit H

RNA

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    149872964..149880713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    151055071..151062678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)