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

    Gene ID: 23130, updated on 2-Nov-2024

    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
    Enables lipid transfer activity. Involved in autophagosome assembly and positive regulation of autophagosome assembly. Is active in organelle membrane contact site. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 17.3), spleen (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64894546..64917209, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64887785..64910450, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 4933 Neighboring gene microRNA 6750 Neighboring gene microRNA 6749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4934 Neighboring gene protein phosphatase 2 regulatory subunit B'beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64691122-64691919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3503 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:64694868-64696067 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 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. Differential requirement for ATG2A domains for localization to autophagic membranes and lipid droplets. Tamura N, et al. FEBS Lett, 2017 Dec. PMID 29113029
    2. ATG2 transports lipids to promote autophagosome biogenesis. Valverde DP, et al. J Cell Biol, 2019 Jun 3. PMID 30952800, Free PMC Article
    3. Quantitative analysis of autophagy reveals the role of ATG9 and ATG2 in autophagosome formation. Broadbent DG, et al. J Cell Biol, 2023 Jul 3. PMID 37115157, Free PMC Article
    4. Mammalian Atg2 proteins are essential for autophagosome formation and important for regulation of size and distribution of lipid droplets. Velikkakath AK, et al. Mol Biol Cell, 2012 Mar. PMID 22219374, Free PMC Article
    5. Lipid droplet and early autophagosomal membrane targeting of Atg2A and Atg14L in human tumor cells. Pfisterer SG, et al. J Lipid Res, 2014 Jul. PMID 24776541, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MGCG regulates glioblastoma tumorigenicity via hnRNPK/ATG2A and promotes autophagy.
      Title: MGCG regulates glioblastoma tumorigenicity via hnRNPK/ATG2A and promotes autophagy.
    2. Quantitative analysis of autophagy reveals the role of ATG9 and ATG2 in autophagosome formation.
      Title: Quantitative analysis of autophagy reveals the role of ATG9 and ATG2 in autophagosome formation.
    3. 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.
    4. 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.
    5. A conserved ATG2-GABARAP family interaction is critical for phagophore formation.
      Title: A conserved ATG2-GABARAP family interaction is critical for phagophore formation.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-membrane adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    involved_in glycophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pexophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in piecemeal microautophagy of the nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in phagophore assembly site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
      UniProtKB/TrEMBL
      H7C3T2

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

      Status: VALIDATED

      Source sequence(s)
      AP001187
      UniProtKB/TrEMBL
      H7C3T2

    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
      O43154, Q14DM2, Q2TAZ0, Q6ZTV2, Q7Z6K8, Q8IVY5, Q8TAI8, Q96HH7
      UniProtKB/TrEMBL
      H7C3T2
      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: GCF_000001405.40-RS_2024_08

    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/TrEMBL
      H7C3T2
      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

      UniProtKB/TrEMBL
      H7C3T2
      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)

    mRNA and Protein(s)

    1. XM_054368138.1 → XP_054224113.1  autophagy-related protein 2 homolog A isoform X1

    2. XM_054368139.1 → XP_054224114.1  autophagy-related protein 2 homolog A isoform X2

    3. XM_054368140.1 → XP_054224115.1  autophagy-related protein 2 homolog A isoform X3

    RNA

    1. XR_008488364.1 RNA Sequence

    2. XR_008488366.1 RNA Sequence

    3. XR_008488365.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TAZ0.3 GenPept UniProtKB/Swiss-Prot:Q2TAZ0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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