Atp6v0e2 ATPase, H+ transporting, lysosomal V0 subunit E2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v0e2provided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V0 subunit E2provided by MGI
Primary source: MGI:MGI:1923502
See related: Ensembl:ENSMUSG00000039347 AllianceGenome:MGI:1923502
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: NM9.2; 0610006O14Rik
Summary: Predicted to enable proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Predicted to be located in clathrin-coated vesicle membrane. Predicted to be part of vacuolar proton-transporting V-type ATPase, V0 domain. Predicted to be active in synaptic vesicle membrane. Is expressed in several structures, including genitourinary system; nervous system; sensory organ; and tongue. Orthologous to human ATP6V0E2 (ATPase H+ transporting V0 subunit e2). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in cortex adult (RPKM 116.9), cerebellum adult (RPKM 109.2) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 B2.3; 6 23.52 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (48514503..48518735)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (48537569..48541801)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A cDNA encoding a novel putative neuron-specific isoform of vacuolar proton-translocating ATPase (V-ATPase), NM9.2, was isolated from rat and mouse
Title: A novel putative M9.2 isoform of V-ATPase expressed in the nervous system.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables proton-transporting ATPase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info
enables proton-transporting ATPase activity, rotational mechanism	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in proton transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle lumen acidification	EXP Inferred from Experiment more info	PubMed
involved_in synaptic vesicle lumen acidification	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle lumen acidification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology 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: ATPase, H+ transporting, lysosomal, V0 subunit E; V-ATPase subunit e 2; vacuolar proton pump subunit e 2

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_001347164.1 → NP_001334093.1 V-type proton ATPase subunit e 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a longer and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC154013

Consensus CDS

CCDS85039.1

UniProtKB/TrEMBL

A0A0N4SVQ2

Related

ENSMUSP00000145198.2, ENSMUST00000203011.2
NM_133764.3 → NP_598525.1 V-type proton ATPase subunit e 2 isoform 1

See identical proteins and their annotated locations for NP_598525.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (1).

Source sequence(s)

AC154013, AI839056, AK077313, BY296901

Consensus CDS

CCDS20103.1

UniProtKB/Swiss-Prot

Q91XE7

Related

ENSMUSP00000044110.6, ENSMUST00000040361.8

Conserved Domains (1) summary

pfam05493
Location:9 → 67

ATP_synt_H; ATP synthase subunit H