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ATP6V1G2 ATPase H+ transporting V1 subunit G2 [ Homo sapiens (human) ]

Gene ID: 534, updated on 25-Nov-2021

Summary

Official Symbol
ATP6V1G2provided by HGNC
Official Full Name
ATPase H+ transporting V1 subunit G2provided by HGNC
Primary source
HGNC:HGNC:862
See related
Ensembl:ENSG00000213760 MIM:606853
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NG38; ATP6G; VMA10; ATP6G2
Summary
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]
Expression
Biased expression in brain (RPKM 100.0) and adrenal (RPKM 3.8) See more
Orthologs
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Genomic context

See ATP6V1G2 in Genome Data Viewer
Location:
6p21.33
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31544444..31546742, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31512221..31514519, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATP6V1G2-DDX39B readthrough (NMD candidate) Neighboring gene DExD-box helicase 39B Neighboring gene DDX39B antisense RNA 1 Neighboring gene small nucleolar RNA, C/D box 84 Neighboring gene NFKB inhibitor like 1 Neighboring gene uncharacterized LOC100287329 Neighboring gene lymphotoxin alpha

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough ATP6V1G2-DDX39B

Readthrough gene: ATP6V1G2-DDX39B, Included gene: DDX39B

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase-coupled transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in melanosome IEA
Inferred from Electronic Annotation
more info
 
part_of vacuolar proton-transporting V-type ATPase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of vacuolar proton-transporting V-type ATPase, V1 domain ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
V-type proton ATPase subunit G 2
Names
ATPase, H+ transporting, lysosomal (vacuolar proton pump)
ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
H(+)-transporting two-sector ATPase, subunit G2
V-ATPase 13 kDa subunit 2
vacuolar ATP synthase subunit G 2
vacuolar proton pump G subunit 2
NP_001191007.1
NP_569730.1
NP_612139.1

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_001204078.2NP_001191007.1  V-type proton ATPase subunit G 2 isoform c

    See identical proteins and their annotated locations for NP_001191007.1

    Status: REVIEWED

    Source sequence(s)
    AL662801, BC047791
    Consensus CDS
    CCDS56413.1
    UniProtKB/Swiss-Prot
    O95670
    UniProtKB/TrEMBL
    Q6NVJ2
    Related
    ENSP00000365321.4, ENST00000376151.4
    Conserved Domains (1) summary
    cl03922
    Location:367
    V-ATPase_G; Vacuolar (H+)-ATPase G subunit
  2. NM_130463.4NP_569730.1  V-type proton ATPase subunit G 2 isoform a

    See identical proteins and their annotated locations for NP_569730.1

    Status: REVIEWED

    Source sequence(s)
    AL662801, BC068023, DA129116
    Consensus CDS
    CCDS4698.1
    UniProtKB/Swiss-Prot
    O95670
    UniProtKB/TrEMBL
    Q6NVJ2
    Related
    ENSP00000302194.5, ENST00000303892.10
    Conserved Domains (1) summary
    pfam03179
    Location:3107
    V-ATPase_G; Vacuolar (H+)-ATPase G subunit
  3. NM_138282.3NP_612139.1  V-type proton ATPase subunit G 2 isoform b

    See identical proteins and their annotated locations for NP_612139.1

    Status: REVIEWED

    Source sequence(s)
    AA401769, AL662801
    Consensus CDS
    CCDS4699.1
    UniProtKB/Swiss-Prot
    O95670
    UniProtKB/TrEMBL
    Q6NVJ2
    Related
    ENSP00000419698.1, ENST00000483251.1
    Conserved Domains (1) summary
    cl03922
    Location:166
    V-ATPase_G; Vacuolar (H+)-ATPase G subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    31544444..31546742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3021774..3024068 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    2792214..2794508 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    2849497..2851791 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    2886383..2888677 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    2800300..2802594 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    2843728..2846026 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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