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

ATG9B Gene

protein-coding   GIFtS: 45
GCID: GC07M150710

Autophagy Related 9B

(Previous names: nitric oxide synthase 3 antisense, ATG9 autophagy related...)
(Previous symbol: NOS3AS)
  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 9B1 2     Nitric Oxide Synthase 3 Antisense1
NOS3AS1 2 3 5     ATG9 Autophagy Related 9 Homolog B2
APG9L22 3 5     Autophagy 9-Like 2 Protein2
Nitric Oxide Synthase 3-Overlapping Antisense Gene Protein2 3     Autophagy-Related Protein 9B2
APG9-Like 22 3     Endothelial Nitric Oxide Synthase Antisense2
SONE2 5     Protein SONE3
ATG9 Autophagy Related 9 Homolog B (S. Cerevisiae)1     

External Ids:    HGNC: 218991   Entrez Gene: 2859732   Ensembl: ENSG000001816527   OMIM: 6122055   UniProtKB: Q674R73   

Export aliases for ATG9B gene to outside databases

Previous GC identifers: GC07U901563 GC07M150170 GC07M150340 GC07M144521


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

Entrez Gene summary for ATG9B Gene:
This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as
an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene,
which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the
autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Sep 2012)

GeneCards Summary for ATG9B Gene: 
ATG9B (autophagy related 9B) is a protein-coding gene. Diseases associated with ATG9B include skeletal tuberculosis, and hypertensive retinopathy. An important paralog of this gene is ATG9A.

UniProtKB/Swiss-Prot: ATG9B_HUMAN, Q674R7
Function: Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in
the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for
formation of the sequestering vesicle (By similarity)




(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_000007.13  NC_018918.2  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATG9B gene promoter:
         AREB6   USF-1   Lmo2   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Pax-4a   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATG9B promoter sequence
   Search SABiosciences Chromatin IP Primers for ATG9B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATG9B


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

Entrez Gene cytogenetic band: 7q36.1   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q36

ATG9B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATG9B gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M150710:  view genomic region     (about GC identifiers)

Start:
150,709,297 bp from pter      End:
150,721,586 bp from pter
Size:
12,290 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 150,038,886-150,051,176     

(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: ATG9B_HUMAN, Q674R7 (See protein sequence)
Recommended Name: Autophagy-related protein 9B  
Size: 924 amino acids; 101019 Da
Subcellular location: Cytoplasmic vesicle, autophagosome membrane; Multi-pass membrane protein. Note=Under amino
acid starvation or rapamycin treatment, redistributes from a juxtanuclear clustered pool to a dispersed
peripheral cytosolic pool. The starvation-induced redistribution depends on ULK1 and ATG13
Miscellaneous: ATG9B gene is located on the opposite DNA strand of the NOS3 gene at chromosome 7q36. The genes are
oriented in a tail-to-tail configuration and the mRNAs encoding ATG9B and NOS3 are complementary for 662
nucleotides. ATG9B transcription may a role in NOS3 transcription regulation
Sequence caution: Sequence=AAQ86941.1; Type=Erroneous initiation; Sequence=AC010973; Type=Frameshift;
Positions=766;
Secondary accessions: A1A5D3 Q6JRW5 Q8N8I8
Alternative splicing: 3 isoforms:  Q674R7-1   Q674R7-2   Q674R7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATG9B: NX_Q674R7

Explore proteomics data for ATG9B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q674R7

  • ATG9B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATG9B Protein Expression
    REFSEQ proteins: NP_775952.4  
    ENSEMBL proteins: 
     ENSP00000475005   ENSP00000473897   ENSP00000475202   ENSP00000475737  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000421autophagic vacuole membrane IEA--
    GO:0005737cytoplasm ----
    GO:0005776autophagic vacuole ----
    GO:0016021integral to membrane IEA--
    GO:0031410cytoplasmic vesicle IEA--

    ATG9B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007241 Autophagy-rel_prot_9

    Graphical View of Domain Structure for InterPro Entry Q674R7

    ProtoNet protein and cluster: Q674R7

    UniProtKB/Swiss-Prot: ATG9B_HUMAN, Q674R7
    Similarity: Belongs to the ATG9 family


    ATG9B 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: ATG9B_HUMAN, Q674R7
    Function: Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in
    the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for
    formation of the sequestering vesicle (By similarity)
    Induction: By hypoxia, leading to inhibit NOS3 expression

    Animal Models:

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    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATG9B

    1 Interacting protein for ATG9B (Q674R73) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATG16L1Q676U53I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly IDA15755735
    GO:0006914autophagy ----

    ATG9B 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 ATG9B

    Search CenterWatch for drugs/clinical trials and news about ATG9B

    (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 ATG9B gene: 
    NM_173681.5  

    Unigene Cluster for ATG9B:

    Autophagy related 9B
    Hs.707300  [show with all ESTs]
    Unigene Representative Sequence: NM_173681
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498521 ENST00000494791(uc003wig.4 uc011kvc.2) ENST00000486407
    ENST00000404733 ENST00000476282 ENST00000471797 ENST00000464855 ENST00000469530
    ENST00000473698 ENST00000473409 ENST00000473134 ENST00000466157 ENST00000377974
    ENST00000444312 ENST00000605938 ENST00000605952
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ATG9B:
    hsa-miR-4316 hsa-miR-485-5p
    SwitchGear 3'UTR luciferase reporter plasmidATG9B 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AY316116.1 BC128587.1 NR_073169.1 

    12 DOTS entries:

    DT.100778681  DT.308401  DT.97837908  DT.97845230  DT.75176268  DT.97765741  DT.111928  DT.121121388 
    DT.95269492  DT.97835824  DT.100001498  DT.313642 

    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

    ATG9B expression in normal human tissues (normalized intensities)      ATG9B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGGTGGGT
    ATG9B Expression
    About this image


    ATG9B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Placenta (Extraembryonic Tissues)

     -- (Integumentary System)
             skin   

    See ATG9B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATG9B

    SOURCE GeneReport for Unigene cluster: Hs.707300

    UniProtKB/Swiss-Prot: ATG9B_HUMAN, Q674R7
    Tissue specificity: Highly expressed in placenta (trophoblast cells) and pituitary gland. Not expressed in
    vascular endothelial

        SABiosciences Expression via Pathway-Focused PCR Array including ATG9B: 
              Autophagy in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATG9B

    (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 ATG9B gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atg9b1 , 5 ATG9 autophagy related 9 homolog B (S. cerevisiae)5
    autophagy related 9B1
    85.76(n)1
    87.54(a)1
      5 (11.49 cM)5
    2139481  NM_001002897.31  NP_001002897.21 
     243841815 
    lizard
    (Anolis carolinensis)
    Reptilia ATG9A6
    Uncharacterized protein
    47(a)
    1 ↔ 1
    GL343807.1(1913-13984)
    zebrafish
    (Danio rerio)
    Actinopterygii atg9b6
    ATG9 autophagy related 9 homolog B (S. cerevisiae)...
    44(a)
    1 ↔ 1
    24(35064904-35098243)
    fruit fly
    (Drosophila melanogaster)
    Insecta Atg96
    Autophagy-specific gene 9
    30(a)
    1 → many
    2R(12181903-12184737)
    worm
    (Caenorhabditis elegans)
    Secernentea atg-96
    Protein ATG-9, isoform a
    20(a)
    1 → many
    V(348789-358841)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATG96
    Transmembrane protein involved in forming Cvt and ...
    16(a)
    1 → many
    IV(184925-187918)


    ENSEMBL Gene Tree for ATG9B (if available)
    TreeFam Gene Tree for ATG9B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATG9B gene
    ATG9A2  
    1 SIMAP similar gene for ATG9B using alignment to 1 protein entry:     ATG9B_HUMAN:
    ATG9A

    ATG9B 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

    10/438 SNPs in ATG9B are shown (see all 438)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113936071,2
    C--150043491(+) AAGGCC/-TCAGG 3 /A /GL fra12Minor allele frequency- -:0.00CSA 4
    rs105435151,2
    C--150718922(+) GTAGA-/GACAGGG 2 -- int10--------
    rs113275681,2
    C--150718949(+) CCAGA-/ATGGTT 2 -- int10--------
    rs355786721,2
    C--150719936(+) AAAAA-/A/AA  
            
    GATAT
    2 -- int11NA 2
    rs1871102551,2
    --154160948(+) TTCACC/TATGTT 2 -- ds50010--------
    rs22563141,2
    C,F,A,H--154160985(-) AGGATT/CGTGAG 2 -- ds500113Minor allele frequency- C:0.27NS NA WA CSA EA 560
    rs39182351,2
    C,F--154161058(+) tgAAGG/AATTTT 2 -- ds50018Minor allele frequency- A:0.02NS NA 418
    rs1904369181,2
    --154161118(+) GCCAGC/GAACCA 2 -- ds50010--------
    rs1835083861,2
    --154161207(+) AACTAC/TAAATA 2 -- ds50010--------
    rs1884527421,2
    --154161231(+) TACTGA/TACATA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for ATG9B (150709297 - 150721586 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ATG9B:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1252e199CNV Deletion23128226
    nsv889474CNV Loss21882294
    nsv889473CNV Loss21882294
    dgv7544n71CNV Loss21882294
    nsv889465CNV Loss21882294
    nsv526410CNV Loss19592680
    nsv889471CNV Loss21882294
    nsv889469CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    (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
    OMIM gene information: 612205    OMIM disorders: --

    12 diseases for ATG9B:    About MalaCards
    skeletal tuberculosis    hypertensive retinopathy    endotheliitis    non-hodgkin lymphoma
    hodgkin's lymphoma    hypoxia    meningioma    tuberculosis
    hypertension    atherosclerosis    colorectal cancer    leukemia


    ATG9B for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATG9B
    Human Genome Epidemiology (HuGE) Navigator: ATG9B (11 documents)

    Export disorders for ATG9B 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 ATG9B gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with ATG9B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Post-transcriptional regulation of endothelial nitric-oxide synthase by an overlapping antisense mRNA transcript. (PubMed id 15234981)1, 2, 3, 9 Robb G.B.... Marsden P.A. (2004)
    2. Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast. (PubMed id 15755735)1, 2, 3 Yamada T....Scherer S.W. (2005)
    3. Identification of type 2 diabetes-associated combinat ion of SNPs using support vector machine. (PubMed id 20416077)1, 4 Ban H.J....Park K.J. (2010)
    4. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    5. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Integrative predictive model of coronary artery calci fication in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (2009)
    8. 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)
    9. Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma. (PubMed id 19423521)1, 4 Han X....Zhang Y. (2009)
    10. Hypoxia-inducible expression of a natural cis-antisense transcript inhibits endothelial nitric-oxide synthase. (PubMed id 17403686)1, 2 Fish J.E.... Marsden P.A. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 285973 HGNC: 21899 Ensembl:ENSG00000181652 euGenes: HUgn285973 ECgene: ATG9B
    H-InvDB: ATG9B

    (According to HUGE)
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    About This Section
    NameDescription
    PharmGKB entry for ATG9B Pharmacogenomics, SNPs, Pathways

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    Patent Information for ATG9B gene:
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