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ATG2A autophagy related 2A [ Homo sapiens (human) ]

Gene ID: 23130, updated on 9-Mar-2023

Summary

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Official Symbol
ATG2Aprovided by HGNC
Official Full Name
autophagy related 2Aprovided by HGNC
Primary source
HGNC:HGNC:29028
See related
Ensembl:ENSG00000110046 MIM:616225; AllianceGenome:HGNC:29028
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
BLTP4A
Summary
Predicted to enable phosphatidylinositol-3-phosphate binding activity. Involved in autophagosome assembly. Predicted to be located in endoplasmic reticulum membrane; lipid droplet; and phagophore assembly site membrane. Predicted to be active in phagophore assembly site. Predicted to be extrinsic component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 17.3), spleen (RPKM 4.8) and 25 other tissues See more
Orthologs
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Genomic context

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See ATG2A in Genome Data Viewer
Location:
11q13.1
Exon count:
41
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64894546..64917209, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64887785..64910450, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64662018..64684681, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MIR194-2 host gene Neighboring gene microRNA 194-2 Neighboring gene microRNA 192 Neighboring gene microRNA 6750 Neighboring gene microRNA 6749 Neighboring gene protein phosphatase 2 regulatory subunit B'beta Neighboring gene glycoprotein hormone subunit alpha 2 Neighboring gene membrane anchored junction protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. ATG2 transports lipids to promote autophagosome biogenesis. Valverde DP, et al. J Cell Biol, 2019 Jun 3. PMID 30952800, Free PMC Article
  2. Differential requirement for ATG2A domains for localization to autophagic membranes and lipid droplets. Tamura N, et al. FEBS Lett, 2017 Dec. PMID 29113029
  3. Insights into autophagosome biogenesis from structural and biochemical analyses of the ATG2A-WIPI4 complex. Chowdhury S, et al. Proc Natl Acad Sci U S A, 2018 Oct 16. PMID 30185561, Free PMC Article
  4. Atg2A/B deficiency switches cytoprotective autophagy to non-canonical caspase-8 activation and apoptosis. Tang Z, et al. Cell Death Differ, 2017 Dec. PMID 28800131, Free PMC Article
  5. Identification of C21orf59 and ATG2A as novel determinants of renal function-related traits in Japanese by exome-wide association studies. Yamada Y, et al. Oncotarget, 2017 Jul 11. PMID 28410202, Free PMC Article

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HIF-1alpha-induced expression of m6A reader YTHDF1 drives hypoxia-induced autophagy and malignancy of hepatocellular carcinoma by promoting ATG2A and ATG14 translation.
    Title: HIF-1α-induced expression of m6A reader YTHDF1 drives hypoxia-induced autophagy and malignancy of hepatocellular carcinoma by promoting ATG2A and ATG14 translation.
  2. A model for a partnership of lipid transfer proteins and scramblases in membrane expansion and organelle biogenesis.
    Title: A model for a partnership of lipid transfer proteins and scramblases in membrane expansion and organelle biogenesis.
  3. A conserved ATG2-GABARAP family interaction is critical for phagophore formation.
    Title: A conserved ATG2-GABARAP family interaction is critical for phagophore formation.
  4. N-terminal fragment of ATG2A that supports lipid transfer in vitro is both necessary and fully sufficient to rescue blocked autophagosome biogenesis in ATG2A/ATG2B KO cells
    Title: ATG2 transports lipids to promote autophagosome biogenesis.
  5. Here, the authors demonstrate that human ATG2A is a lipid transfer protein. ATG2A can extract lipids from membrane vesicles and unload them to other vesicles. Lipid transfer by ATG2A is more efficient between tethered vesicles than between untethered vesicles.
    Title: The autophagic membrane tether ATG2A transfers lipids between membranes.
  6. Authors demonstrate that inhibition of autophagosome completion by Atg2A/B deletion accumulates immature autophagosomal membranes that promote non-canonical caspase-8 activation in response to nutrient starvation via an intracellular death-inducing signaling complex (iDISC).
    Title: Atg2A/B deficiency switches cytoprotective autophagy to non-canonical caspase-8 activation and apoptosis.
  7. Among polymorphisms identified in the present study, rs76974938 [C/T (D67N)] of C21orf59 and rs188780113 [G/A (R478C)] of ATG2A may be novel determinants of estimated glomerular filtration rate and chronic kidney disease or of the serum concentration of uric acid, respectively.
    Title: Identification of C21orf59 and ATG2A as novel determinants of renal function-related traits in Japanese by exome-wide association studies.
  8. These data provide evidence for additional roles of Atg2A and Atg14L in the formation of early autophagosomal membranes and also in lipid metabolism.
    Title: Lipid droplet and early autophagosomal membrane targeting of Atg2A and Atg14L in human tumor cells.
  9. The N-terminal amino acids 1-198 and the C-terminal amino acids 1830-1938 are required for the localization to isolation membranes and lipid droplets, respectively. We also identified an amphipathic helix in ATG2A that is required for both its localization to organelles and autophagosome formation.
    Title: Differential requirement for ATG2A domains for localization to autophagic membranes and lipid droplets.
  10. Depletion of both Atg2A and Atg2B causes clustering of enlarged lipid droplets in an autophagy-independent manner. These data suggest that mammalian Atg2 proteins function both in autophagosome formation and regulation of lipid droplet morphology and dispersion.
    Title: Mammalian Atg2 proteins are essential for autophagosome formation and important for regulation of size and distribution of lipid droplets.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0404, MGC117153

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
  
involved_in late nucleophagy IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in piecemeal microautophagy of the nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of autophagosome assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in reticulophagy IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
  
is_active_in organelle membrane contact site IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in phagophore assembly site membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
autophagy-related protein 2 homolog A
Names
ATG2 autophagy related 2 homolog A
bridge-like lipid transfer protein family member 4A

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_001367971.1 → NP_001354900.1  autophagy-related protein 2 homolog A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AP001187

  2. NM_001367972.1 → NP_001354901.1  autophagy-related protein 2 homolog A isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP001187

  3. NM_015104.3 → NP_055919.2  autophagy-related protein 2 homolog A isoform 1

    See identical proteins and their annotated locations for NP_055919.2

    Status: VALIDATED

    Source sequence(s)
    AP001187, BC110650
    Consensus CDS
    CCDS31602.1
    UniProtKB/Swiss-Prot
    Q2TAZ0, Q96HH7
    Related
    ENSP00000366475.3, ENST00000377264.8
    Conserved Domains (2) summary
    pfam09333
    Location:1839 → 1932
    ATG_C; Autophagy-related protein C terminal domain
    pfam12624
    Location:14 → 108
    Chorein_N; N-terminal region of Chorein or VPS13

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    64894546..64917209 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544863.3 → XP_011543165.1  autophagy-related protein 2 homolog A isoform X1

    UniProtKB/Swiss-Prot
    Q2TAZ0
    Related
    ENSP00000413716.1, ENST00000418259.5
    Conserved Domains (2) summary
    pfam09333
    Location:1841 → 1934
    ATG_C; Autophagy-related protein C terminal domain
    pfam12624
    Location:14 → 108
    Chorein_N; N-terminal region of Chorein or VPS13

  2. XM_011544866.3 → XP_011543168.1  autophagy-related protein 2 homolog A isoform X2

    Conserved Domains (1) summary
    pfam12624
    Location:14 → 108
    Chorein_N; N-terminal region of Chorein or VPS13

  3. XM_011544867.4 → XP_011543169.1  autophagy-related protein 2 homolog A isoform X3

    Conserved Domains (1) summary
    pfam12624
    Location:14 → 108
    Chorein_N; N-terminal region of Chorein or VPS13

RNA

  1. XR_007062462.1 RNA Sequence

  2. XR_949848.3 RNA Sequence

  3. XR_949847.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    64887785..64910450 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2TAZ0.3 GenPept UniProtKB/Swiss-Prot:Q2TAZ0

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