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ATG2B Gene

protein-coding   GIFtS: 47
GCID: GC14M096747

Autophagy Related 2B

(Previous names: chromosome 14 open reading frame 103, ATG2 autophagy related...)
(Previous symbol: C14orf103)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Autophagy Related 2B1 2
C14orf1031 2 3
ATG2 Autophagy Related 2 Homolog B (S. Cerevisiae)1
Chromosome 14 Open Reading Frame 1031
ATG2 Autophagy Related 2 Homolog B2
Autophagy-Related Protein 2 Homolog B2

External Ids:    HGNC: 201871   Entrez Gene: 551022   Ensembl: ENSG000000667397   UniProtKB: Q96BY73   

Export aliases for ATG2B gene to outside databases

Previous GC identifers: GC14M095817 GC14M076932


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ATG2B Gene:
ATG2B (autophagy related 2B) is a protein-coding gene. Diseases associated with ATG2B include chronic lymphocytic leukemia, and colorectal cancer. An important paralog of this gene is ATG2A.

UniProtKB/Swiss-Prot: ATG2B_HUMAN, Q96BY7
Function: Required for both autophagosome formation and regulation of lipid droplet morphology and dispersion




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATG2B gene promoter:
         GR   HSF1 (long)   FOXL1   FOXO4   COMP1   HSF1short   Sox9   GR-alpha   LyF-1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATG2B promoter sequence
   Search Chromatin IP Primers for ATG2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATG2B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.2   Ensembl cytogenetic band:  14q32.2   HGNC cytogenetic band: 14q32.31

ATG2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATG2B gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M096747:  view genomic region     (about GC identifiers)

Start:
96,747,595 bp from pter      End:
96,830,207 bp from pter
Size:
82,613 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ATG2B_HUMAN, Q96BY7 (See protein sequence)
Recommended Name: Autophagy-related protein 2 homolog B  
Size: 2078 amino acids; 232763 Da
Sequence caution: Sequence=BAA91504.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB70872.1; Type=Erroneous termination; Positions=800; Note=Translated as Glu; Sequence=BAC87363.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6ZRE7 Q96DQ3 Q9NW80

Explore the universe of human proteins at neXtProt for ATG2B: NX_Q96BY7

Explore proteomics data for ATG2B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATG2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060506.5  
    ENSEMBL proteins: 
     ENSP00000353010  

    ATG2B Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for ATG2B


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR015412 Autophagy-rel_C
     IPR026849 ATG2
     IPR026885 ATG2_CAD_motif
     IPR026854 VPS13A_N

    Graphical View of Domain Structure for InterPro Entry Q96BY7

    ProtoNet protein and cluster: Q96BY7

    UniProtKB/Swiss-Prot: ATG2B_HUMAN, Q96BY7
    Similarity: Belongs to the ATG2 family


    ATG2B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATG2B_HUMAN, Q96BY7
    Function: Required for both autophagosome formation and regulation of lipid droplet morphology and dispersion

    Animal Models:

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATG2B
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    miRNA
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    miRTarBase miRNAs that target ATG2B:
    hsa-mir-421 (MIRT016131), hsa-mir-130a-3p (MIRT006259)

    Block miRNA regulation of human, mouse, rat ATG2B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATG2B (see all 71):
    hsa-miR-106a hsa-miR-632 hsa-miR-519a hsa-miR-890 hsa-miR-93 hsa-miR-4326 hsa-miR-130b hsa-miR-490-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATG2B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATG2B_HUMAN, Q96BY7: Preautophagosomal structure membrane; Peripheral membrane protein. Lipid droplet
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    lysosome1
    vacuole1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005811lipid particle IEA--
    GO:0034045pre-autophagosomal structure membrane IEA--

    ATG2B for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATG2B
    Interactions:

        Search GeneGlobe Interaction Network for ATG2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ATG2B (Q96BY73 ENSP000003530104) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDR45Q9Y4843, ENSP000003488484I2D: score=3 STRING: ENSP00000348848
    ATG2AQ2TAZ03, ENSP000003664754I2D: score=3 STRING: ENSP00000366475
    WIPI1ENSP000002621394STRING: ENSP00000262139
    WIPI2ENSP000002888284STRING: ENSP00000288828
    ATG9AENSP000003551734STRING: ENSP00000355173
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006914autophagy IEA--

    ATG2B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATG2B



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATG2B gene: 
    NM_018036.5  

    Unigene Cluster for ATG2B:

    Autophagy related 2B
    Hs.168241  [show with all ESTs]
    Unigene Representative Sequence: NM_018036
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359933(uc001yfi.3) ENST00000555263 ENST00000261834 ENST00000553643
    ENST00000554151 ENST00000473234 ENST00000488421
    miRNA
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    Block miRNA regulation of human, mouse, rat ATG2B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATG2B (see all 71):
    hsa-miR-106a hsa-miR-632 hsa-miR-519a hsa-miR-890 hsa-miR-93 hsa-miR-4326 hsa-miR-130b hsa-miR-490-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ATG2B (NM_018036)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATG2B
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      QuantiTect SYBR Green Assays in human, mouse, rat ATG2B
      QuantiFast Probe-based Assays in human, mouse, rat ATG2B

    Additional mRNA sequence: 

    AK001104.1 AK055200.1 AK123451.1 AK128275.1 AK302641.1 AL133095.1 BC015016.2 BC015851.1 

    3 DOTS entries:

    DT.208671  DT.210601  DT.101957710 

    Selected AceView cDNA sequences (see all 174):

    AA983768 NM_018036 CK819322 BM128371 AI560009 BI467243 AK128275 AK001104 
    AI744759 AA904877 AW444725 AI094178 BE047250 CA425557 BM704302 AA677746 
    AA463258 AW963994 BM129020 BM661875 AA262490 BM722242 BU187838 AI079350 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATG2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTATTGACT
    ATG2B Expression
    About this image

    ATG2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATG2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.168241
        Custom PCR Arrays for ATG2B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATG2B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATG2B gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atg2b1 , 5 ATG2 autophagy related 2 homolog B (S. cerevisiae)5
    autophagy related 2B1
    85.69(n)1
    91.13(a)1
      12 (55.82 cM)5
    765591  NM_029654.41  NP_083930.51 
     1056135395 
    chicken
    (Gallus gallus)
    Aves ATG2B1 autophagy related 2B 78.8(n)
    83.57(a)
      423441  XM_421350.4  XP_421350.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATG2B6
    autophagy related 2B
    82(a)
    1 ↔ 1
    1(7773348-7838621)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.83032 Transcribed sequence with moderate similarity to protein more 78.05(n)    CF226038.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ATG2B6
    autophagy related 2B
    75(a)
    1 ↔ 1
    17(43050215-43057177) ENSDARG00000097650
    fruit fly
    (Drosophila melanogaster)
    Insecta Atg21 Autophagy-specific gene 2 45.03(n)
    34.07(a)
      38344  NM_001274412.1  NP_001261341.1 
    worm
    (Caenorhabditis elegans)
    Secernentea atg-26
    Protein ATG-2 (atg-2) mRNA, complete cds
    18(a)
    1 → many
    X(6809104-6817632) WBGene00019748
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATG26
    Peripheral membrane protein required for vesicle f...
    17(a)
    1 → many
    XIV(191324-196102) YNL242W


    ENSEMBL Gene Tree for ATG2B (if available)
    TreeFam Gene Tree for ATG2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATG2B gene
    ATG2A2  
    1 SIMAP similar gene for ATG2B using alignment to 2 protein entries:     ATG2B_HUMAN (see all proteins):
    ATG2A

    ATG2B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATG2B (see all 1816)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs780502651,2
    C,F--96747234(+) ATAAAT/CAAAAT 1 -- ds50011Minor allele frequency- C:0.10EA 120
    rs1411863551,2
    C--96747338(+) TTGCTG/TCAAGT 1 -- ds50010--------
    rs1507282071,2
    --96747349(+) CCTTAA/TTGCAG 1 -- ds50010--------
    rs747486031,2
    F--96747391(+) CAAAGC/TAGGGA 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1378845831,2
    C--96747416(+) AAACTC/TCATAC 1 -- ds50010--------
    rs1833012831,2
    --96747460(+) CTGCTA/GTCAGA 1 -- ds50010--------
    rs1427110921,2
    --96747574(+) GTGAAA/GGACAA 1 -- ds50010--------
    rs727048591,2
    C--96747607(+) AGTAAA/CTATTT 1 -- ut313Minor allele frequency- C:0.10WA NA 240
    rs1170237491,2
    C,F--96747697(+) TTGTAC/TAGCAT 1 -- ut311Minor allele frequency- T:0.03NA 120
    rs751911401,2
    C--96747944(+) GAAATC/TGGAAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ATG2B (96747595 - 96830207 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ATG2B: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATG2B
    DNA2.0 Custom Variant and Variant Library Synthesis for ATG2B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    4 diseases for ATG2B:    About MalaCards
    chronic lymphocytic leukemia    colorectal cancer    leukemia    malaria


    ATG2B for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATG2B
    Human Genome Epidemiology (HuGE) Navigator: ATG2B (1 document)

    Export disorders for ATG2B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATG2B gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with ATG2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian Atg2 proteins are essential for autophagosome formation and important for regulation of size and distribution of lipid droplets. (PubMed id 22219374)1, 2 Velikkakath A.K.... Mizushima N. (Mol. Biol. Cell 2012)
    2. miRNA-130a targets ATG2B and DICER1 to inhibit autophagy and trigger killing of chronic lymphocytic leukemia cells. (PubMed id 22350415)1, 3 Kovaleva V....Seiffert M. (Cancer Res. 2012)
    3. Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability. (PubMed id 19197948)1, 4 Kang M.R....Lee S.H. (J. Pathol. 2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
    7. The functional interactome landscape of the human histone deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (Mol. Syst. Biol. 2013)
    8. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    10. Bridging expressed sequence alignments through targeted cDNA sequencing. (PubMed id 15028280)1 Xie H.... Gill-More R. (Genomics 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55102 HGNC: 20187 AceView: C14orf103 Ensembl:ENSG00000066739 euGenes: HUgn55102
    ECgene: ATG2B H-InvDB: ATG2B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATG2B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATG2B gene:
    Search GeneIP for patents involving ATG2B

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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