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    ATG2B autophagy related 2B [ Homo sapiens (human) ]

    Gene ID: 55102, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ATG2Bprovided by HGNC
    Official Full Name
    autophagy related 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:20187
    See related
    Ensembl:ENSG00000066739 MIM:616226; AllianceGenome:HGNC:20187
    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
    BLTP4B; C14orf103
    Summary
    This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in testis (RPKM 8.1), skin (RPKM 7.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATG2B in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (96279195..96363341, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (90510437..90594937, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (96745532..96829678, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene bradykinin receptor B2 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:96697669-96697864 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96719533-96720042 Neighboring gene uncharacterized LOC124903375 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96734992-96736191 Neighboring gene bradykinin receptor B1 Neighboring gene NANOG hESC enhancer GRCh37_chr14:96748657-96749197 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_38870 Neighboring gene uncharacterized LOC124903430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8985 Neighboring gene Sharpr-MPRA regulatory region 11883 Neighboring gene GSK3B interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6054 Neighboring gene RNA, U2 small nuclear 33, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr14:96878860-96878992 Neighboring gene translation machinery-associated protein 7-like Neighboring gene adenylate kinase 7

    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. Human ATG2B possesses a lipid transfer activity which is accelerated by negatively charged lipids and WIPI4. Osawa T, et al. Genes Cells, 2020 Jan. PMID 31721365
    2. Polymorphism in autophagy gene ATG2B is not associated with bladder cancer recurrence after intravesical Bacillus Calmette-Guerin (BCG) immunotherapy in Asian patients. Zang Z, et al. Urol Oncol, 2021 Apr. PMID 33250346
    3. MiR-143-3p targets ATG2B to inhibit autophagy and promote endothelial progenitor cells tube formation in deep vein thrombosis. Zhang W, et al. Tissue Cell, 2020 Dec. PMID 33130456
    4. Crocin exerts anti-proliferative and apoptotic effects on cutaneous squamous cell carcinoma via miR-320a/ATG2B. Bi X, et al. Bioengineered, 2021 Dec. PMID 34320900, Free PMC Article
    5. Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms. Pegliasco J, et al. Leukemia, 2022 Jan. PMID 34172895

    See all (80) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human gastric cancer progression and stabilization of ATG2B through RNF5 binding facilitated by autophagy-associated CircDHX8.
      Title: Human gastric cancer progression and stabilization of ATG2B through RNF5 binding facilitated by autophagy-associated CircDHX8.
    2. The prognostic value of autophagy related genes with potential protective function in Ewing sarcoma.
      Title: The prognostic value of autophagy related genes with potential protective function in Ewing sarcoma.
    3. Downregulation of LINC01296 suppresses non-small-cell lung cancer via targeting miR-143-3p/ATG2B.
      Title: Downregulation of LINC01296 suppresses non-small-cell lung cancer via targeting miR-143-3p/ATG2B.
    4. Loss of Atg2b and Gskip Impairs the Maintenance of the Hematopoietic Stem Cell Pool Size.
      Title: Loss of Atg2b and Gskip Impairs the Maintenance of the Hematopoietic Stem Cell Pool Size.
    5. Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.
      Title: Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.
    6. Crocin exerts anti-proliferative and apoptotic effects on cutaneous squamous cell carcinoma via miR-320a/ATG2B.
      Title: Crocin exerts anti-proliferative and apoptotic effects on cutaneous squamous cell carcinoma via miR-320a/ATG2B.
    7. Polymorphism in autophagy gene ATG2B is not associated with bladder cancer recurrence after intravesical Bacillus Calmette-Guerin (BCG) immunotherapy in Asian patients.
      Title: Polymorphism in autophagy gene ATG2B is not associated with bladder cancer recurrence after intravesical Bacillus Calmette-Guerin (BCG) immunotherapy in Asian patients.
    8. LncRNA-HOTAIR activates autophagy and promotes the imatinib resistance of gastrointestinal stromal tumor cells through a mechanism involving the miR-130a/ATG2B pathway.
      Title: LncRNA-HOTAIR activates autophagy and promotes the imatinib resistance of gastrointestinal stromal tumor cells through a mechanism involving the miR-130a/ATG2B pathway.
    9. MiR-143-3p targets ATG2B to inhibit autophagy and promote endothelial progenitor cells tube formation in deep vein thrombosis.
      Title: MiR-143-3p targets ATG2B to inhibit autophagy and promote endothelial progenitor cells tube formation in deep vein thrombosis.
    10. ATG2B/GSKIP in de novo acute myeloid leukemia (AML): high prevalence of germline predisposition in French West Indies.
      Title: ATG2B/GSKIP in de novo acute myeloid leukemia (AML): high prevalence of germline predisposition in French West Indies.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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)

    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

    • FLJ10242

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

    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.

    Genomic

    1. NG_051091.2 RefSeqGene

      Range
      5000..89146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018036.7 → NP_060506.6  autophagy-related protein 2 homolog B

      Status: REVIEWED

      Source sequence(s)
      AL355102, AL359240
      Consensus CDS
      CCDS9944.2
      UniProtKB/Swiss-Prot
      Q6ZRE7, Q96BY7, Q96DQ3, Q9NW80
      Related
      ENSP00000353010.4, ENST00000359933.6
      Conserved Domains (4) summary
      pfam09333
      Location:1980 → 2074
      ATG_C; Autophagy-related protein C terminal domain
      pfam12624
      Location:11 → 106
      Chorein_N; N-terminal region of Chorein or VPS13
      pfam13329
      Location:1245 → 1372
      ATG2_CAD; Autophagy-related protein 2 CAD motif
      cl25572
      Location:17 → 234
      VPS13; Vacuolar sorting-associated protein 13, N-terminal

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      96279195..96363341 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      90510437..90594937 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BY7.5 GenPept UniProtKB/Swiss-Prot:Q96BY7

    Gene LinkOut

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

    Chemical Information
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