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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATG2B Gene

protein-coding   GIFtS: 46
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATG2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATG2B_HUMAN, Q96BY7 (See protein sequence)
Recommended Name: Autophagy-related protein 2 homolog B  
Size: 2078 amino acids; 232763 Da
Subcellular location: Preautophagosomal structure membrane; Peripheral membrane protein. Lipid droplet
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96BY7

  • ATG2B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATG2B Protein Expression
    REFSEQ proteins: NP_060506.5  
    ENSEMBL proteins: 
     ENSP00000353010  

    Human Recombinant Protein Products for ATG2B: 
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    Cloud-Clone Corp. Proteins for ATG2B 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ATG2B for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for ATG2B 
    Cloud-Clone Corp. CLIAs for ATG2B


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR026849 ATG2
     IPR026885 ATG2_CAD_motif
     IPR015412 Autophagy-rel_C
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 - Custom generated mouse model solutions for ATG2B 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATG2B 
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    miRNA
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATG2B


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATG2B

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for ATG2B (Q96BY73 ENSP000003530104) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDR45Q9Y4843, ENSP000003488484I2D: score=3 STRING: ENSP00000348848
    ATG2AQ2TAZ03, ENSP000003664754I2D: score=3 STRING: ENSP00000366475
    --A0AUL93I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATG2B

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATG2B
    8/71 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATG2B
      QIAGEN 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 

    24/174 AceView cDNA sequences (see all 174):

    BM129020 BU187838 AI744759 AI560009 BM661875 BM722242 AW963994 AA677746 
    BE047250 AA463258 AI094178 BI467243 NM_018036 BM128371 AW511077 AI079350 
    AK128275 AA262490 CK819322 BM704302 AW444725 BC015016 AA983768 AA904877 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See ATG2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATG2B

    SOURCE GeneReport for Unigene cluster: Hs.168241
        SABiosciences Custom PCR Arrays for ATG2B
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ATG2B
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATG2B
    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATG2B gene from 7/15 species (see all 15)    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_421350.3  XP_421350.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATG2B6
    Uncharacterized protein
    81(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 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atg21 Autophagy-specific gene 2 44.72(n)
    33.7(a)
      38344  NM_139491.1  NP_647748.1 
    worm
    (Caenorhabditis elegans)
    Secernentea atg-21 Protein ATG-2 41.4(n)
    26.23(a)
      180949  NM_076744.5  NP_509145.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATG26
    Peripheral membrane protein required for vesicle f...
    16(a)
    1 → many
    XIV(191324-196102)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1816 SNPs in ATG2B are shown (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
    ----------
    VAR_0230964
    ----see VAR_0230962 I T mis40--------
    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

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

    Structural Variations
          Database of Genomic Variants (DGV) variations for ATG2B: --
    SABiosciences Cancer Mutation 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.)
    About This Section
    3 diseases for ATG2B:    About MalaCards
    chronic lymphocytic leukemia    colorectal cancer    leukemia


    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)
    About This Section

    PubMed articles for ATG2B gene, integrated from 9 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 autophagosom e formation and important for regulation of size and distribution of lipid dropl ets. (PubMed id 22219374)1, 2 Velikkakath A.K....Mizushima N. (2012)
    2. miRNA-130a targets ATG2B and DICER1 to inhibit autopha gy and trigger killing of chronic lymphocytic leukemia cells. (PubMed id 22350415)1, 3 Kovaleva V....Seiffert M. (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. (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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    7. The functional interactome landscape of the human hist one deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (2013)
    8. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. Bridging expressed sequence alignments through targeted cDNA sequencing. (PubMed id 15028280)1 Xie H....Gill-More R. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 55102 HGNC: 20187 AceView: C14orf103 Ensembl:ENSG00000066739 euGenes: HUgn55102
    ECgene: ATG2B H-InvDB: ATG2B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for ATG2B gene:
    Search GeneIP for patents involving ATG2B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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