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

Gene ID: 55102, updated on 5-Mar-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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Location:
14q32.2
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (96279195..96363341, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (90510437..90594937, complement)
105.20220307 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. 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
  2. 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
  3. 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
  4. Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms. Pegliasco J, et al. Leukemia, 2022 Jan. PMID 34172895
  5. LncRNA-HOTAIR activates autophagy and promotes the imatinib resistance of gastrointestinal stromal tumor cells through a mechanism involving the miR-130a/ATG2B pathway. Zhang J, et al. Cell Death Dis, 2021 Apr 6. PMID 33824300, Free PMC Article

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. miR-1278 sensitizes nasopharyngeal carcinoma cells to cisplatin and suppresses autophagy via targeting ATG2B.
    Title: miR-1278 sensitizes nasopharyngeal carcinoma cells to cisplatin and suppresses autophagy via targeting ATG2B.
Submit: New GeneRIF Correction See all GeneRIFs (23)

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

  • 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-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 autophagy of peroxisome 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 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_2023_10

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

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