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ATG16L1 Gene

protein-coding   GIFtS: 61
GCID: GC02P234118

Autophagy Related 16-Like 1 (S. Cerevisiae)

(Previous names: APG16 autophagy 16-like (S. cerevisiae), ATG16 autophagy...)
(Previous symbols: APG16L, ATG16L)
  See ATG16L1-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 16-Like 1 (S. Cerevisiae)1 2     ATG16A2
APG16L1 2 3 5     WDR302
ATG16L1 2     APG16L Beta2
IBD102 5     ATG16 Autophagy Related 16-Like 12
APG16 Autophagy 16-Like (S. Cerevisiae)1     Autophagy-Related Protein 16-12
ATG16 Autophagy Related 16-Like (S. Cerevisiae)1     WD Repeat Domain 302
ATG16 Autophagy Related 16-Like 1 (S. Cerevisiae)1     APG16-Like 13

External Ids:    HGNC: 214981   Entrez Gene: 550542   Ensembl: ENSG000000859787   OMIM: 6107675   UniProtKB: Q676U53   

Export aliases for ATG16L1 gene to outside databases

Previous GC identifers: GC02P233943 GC02P233825 GC02P225960


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATG16L1 Gene:
The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major
process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a
cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding
different isoforms have been found for this gene.(provided by RefSeq, Jun 2010)

GeneCards Summary for ATG16L1 Gene:
ATG16L1 (autophagy related 16-like 1 (S. cerevisiae)) is a protein-coding gene. Diseases associated with ATG16L1 include inflammatory bowel disease 10, and microvascular complications of diabetes 6. GO annotations related to this gene include identical protein binding. An important paralog of this gene is NLE1.

UniProtKB/Swiss-Prot: A16L1_HUMAN, Q676U5
Function: Plays an essential role in autophagy: interacts with ATG12-ATG5 to mediate the conjugation of
phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form
of LC3 named LC3-II

Gene Wiki entry for ATG16L1 Gene


(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 at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATG16L1 gene promoter:
         STAT5B   STAT1   STAT4   STAT6   STAT1beta   STAT5A   STAT1alpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATG16L1 promoter sequence
   Search Chromatin IP Primers for ATG16L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATG16L1


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

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

ATG16L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATG16L1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P234118:  view genomic region     (about GC identifiers)

Start:
234,118,697 bp from pter      End:
234,204,320 bp from pter
Size:
85,624 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: A16L1_HUMAN, Q676U5 (See protein sequence)
Recommended Name: Autophagy-related protein 16-1  
Size: 607 amino acids; 68265 Da
Subunit: Homooligomer. Interacts with ATG5. Part of either the minor and major complexes respectively composed of
4 sets of ATG12-ATG5 and ATG16L1 (400 kDa) or 8 sets of ATG12-ATG5 and ATG16L1 (800 kDa) (By similarity).
Interacts with RAB33B (By similarity). Interacts with TMEM59, TLR2 and NOD2
Sequence caution: Sequence=BAB15448.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB55412.1;
Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for ATG16L1:
4GDK (3D)        4GDL (3D)        4NAW (3D)    
Secondary accessions: A3EXK9 A3EXL0 B6ZDH0 Q6IPN1 Q6UXW4 Q6ZVZ5 Q8NCY2 Q96JV5 Q9H619
Alternative splicing: 5 isoforms:  Q676U5-1   Q676U5-2   Q676U5-3   Q676U5-4   Q676U5-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATG16L1: NX_Q676U5

Explore proteomics data for ATG16L1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys513
  • Modification sites at PhosphoSitePlus

  • See ATG16L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001177195.1  NP_001177196.1  NP_060444.3  NP_110430.5  NP_942593.2  

    ENSEMBL proteins: 
     ENSP00000397512   ENSP00000375872   ENSP00000409215   ENSP00000362625   ENSP00000375876  
     ENSP00000398773   ENSP00000412046   ENSP00000375875   ENSP00000375873   ENSP00000318259  

    ATG16L1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 6):
     IPR019775 WD40_repeat_CS
     IPR013923 Autophagy-rel_prot_16
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q676U5

    ProtoNet protein and cluster: Q676U5

    1 Blocks protein domain: IPB013923 Autophagy protein Apg16

    UniProtKB/Swiss-Prot: A16L1_HUMAN, Q676U5
    Similarity: Belongs to the WD repeat ATG16 family
    Similarity: Contains 7 WD repeats


    Find genes that share domains with ATG16L1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: A16L1_HUMAN, Q676U5
    Function: Plays an essential role in autophagy: interacts with ATG12-ATG5 to mediate the conjugation of
    phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form
    of LC3 named LC3-II

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0042802identical protein binding IPI--
         
    Find genes that share ontologies with ATG16L1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ATG16L1:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Atg16l1):
     cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  immune system  mortality/aging 

    Find genes that share phenotypes with ATG16L1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Atg16l1tm1Aki for ATG16L1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATG16L1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATG16L1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATG16L1

    miRNA
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    miRTarBase miRNAs that target ATG16L1:
    hsa-mir-92a-3p (MIRT049399), hsa-mir-196a-5p (MIRT048211), hsa-mir-188-3p (MIRT038607)

    Block miRNA regulation of human, mouse, rat ATG16L1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATG16L1 (see all 46):
    hsa-miR-576-3p hsa-miR-142-5p hsa-miR-4291 hsa-let-7d hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidATG16L1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ATG16L1
    Predesigned siRNA for gene silencing in human, mouse, rat ATG16L1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATG16L1


    (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
    A16L1_HUMAN, Q676U5: Cytoplasm (By similarity). Preautophagosomal structure membrane; Peripheral membrane protein
    (By similarity). Note=Localized to preautophagosomal structure (PAS) where it is involved in the membrane
    targeting of ATG5 (By similarity). Localizes also to discrete punctae along the ciliary axoneme (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    vacuole4
    nucleus3
    cytosol2
    lysosome2
    endoplasmic reticulum1
    endosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000421autophagic vacuole membrane IEA--
    GO:0005776autophagic vacuole ISS15620219
    GO:0005930axoneme ISS--
    GO:0034045pre-autophagosomal structure membrane IEA--

    Find genes that share ontologies with ATG16L1           About GenesLikeMe


    (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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    SuperPaths for ATG16L1 About    
    See pathways by source

    SuperPathContained pathways About
    1Senescence and Autophagy
    Senescence and Autophagy
    2Regulation of autophagy
    Regulation of autophagy


    Find genes that share SuperPaths with ATG16L1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ATG16L1
        Senescence and Autophagy



    1 Kegg Pathway  (Kegg details for ATG16L1):
        Regulation of autophagy

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATG16L1: 
              Autophagy in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATG16L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATG16L1 (Q676U51, 2, 3 ENSP000003758724) via UniProtKB, MINT, STRING, and/or I2D (see all 334)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RB1CC1Q8TDY21, 2, 3, ENSP000000250084EBI-535909,EBI-1047793 MINT-8430634 MINT-8431568 MINT-8430695 MINT-8430779 MINT-8430758 MINT-8430743 MINT-8430728 I2D: score=3 STRING: ENSP00000025008
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly NAS15620219
    GO:0015031protein transport IEA--
    GO:0051260protein homooligomerization NAS15620219

    Find genes that share ontologies with ATG16L1           About GenesLikeMe



    (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 ATG16L1 (A16L1)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATG16L1 gene (5 alternative transcripts): 
    NM_001190266.1  NM_001190267.1  NM_017974.3  NM_030803.6  NM_198890.2  

    Unigene Cluster for ATG16L1:

    Autophagy related 16-like 1 (S. cerevisiae)
    Hs.529322  [show with all ESTs]
    Unigene Representative Sequence: NM_030803
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000431917 ENST00000392017(uc021vyl.1 uc002vub.3 uc002vtz.3 uc002vty.3 uc002vud.4 uc002vua.3 uc002vtx.2)
    ENST00000444735 ENST00000373525 ENST00000392021 ENST00000419681 ENST00000479942
    ENST00000485623 ENST00000474148 ENST00000417017 ENST00000392020 ENST00000392018
    ENST00000498620 ENST00000492298 ENST00000464645 ENST00000472242 ENST00000473865
    ENST00000347464
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    Selected qRT-PCR Assays for microRNAs that regulate ATG16L1 (see all 46):
    hsa-miR-576-3p hsa-miR-142-5p hsa-miR-4291 hsa-let-7d hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-548l
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    GenScript: all cDNA clones in your preferred vector (see all 5): ATG16L1 (NM_198890)
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      QuantiFast Probe-based Assays in human, mouse, rat ATG16L1

    Additional mRNA sequence: 

    AK001690.1 AK026330.1 AK027854.1 AK074434.1 AK308400.1 AY398617.1 BC000061.2 BC006253.2 
    BC013411.2 BC071846.1 BC117337.1 BC143900.1 EF079889.1 EF079890.1 EF560734.1 JQ924062.1 

    14 DOTS entries:

    DT.100751962  DT.452645  DT.99959954  DT.100751963  DT.91976672  DT.121023968  DT.40213490  DT.100751964 
    DT.206842  DT.95274506  DT.102821359  DT.86855156  DT.95274511  DT.97845540 

    Selected AceView cDNA sequences (see all 202):

    AI093450 F13421 BF981189 CD632810 AU133029 BU623762 AI339035 CK300416 
    BE907639 AK024453 BQ932369 BC071846 BM910525 BU662843 AI570313 BU171895 
    NM_017974 BI793098 NM_030803 BF509941 AK123876 AA314105 BU860551 CA432524 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATG16L1 (see all 15)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a ·
    SP1:                                                                                            -           -                                   -     -         
    SP2:                                                                                      -     -           -                                   -     -         
    SP3:                                                                                            -           -                                   -     -         
    SP4:                                                                                      -     -           -                                   -     -         
    SP5:                                                                                            -           -                                   -     -         

    ExUns: 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c
    SP1:        -                                             
    SP2:        -                                             
    SP3:                                                      
    SP4:        -                                             
    SP5:                                                      


    ECgene alternative splicing isoforms for ATG16L1

    (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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    ATG16L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGTTCTCT
    ATG16L1 Expression
    About this image


    ATG16L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ATG16L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATG16L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.529322
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATG16L1: 
              Autophagy in human mouse rat
              Cell Death PathwayFinder in human mouse rat

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    (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 eukaryotes.

    Orthologs for ATG16L1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atg16l11 , 5 autophagy-related 16-like 1 (yeast)5
    autophagy related 16-like 1 (S. cerevisiae)1
    89.49(n)1
    94.22(a)1
      1 (44.44 cM)5
    770401  NM_029846.41  NP_084122.21 
     877558705 
    chicken
    (Gallus gallus)
    Aves ATG16L11 autophagy related 16-like 1 (S. cerevisiae) 80.07(n)
    86.33(a)
      424746  XM_004936940.1  XP_004936997.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATG16L16
    autophagy related 16-like 1 (S. cerevisiae)
    84(a)
    1 ↔ 1
    3(35931137-35953337)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA986627.12   -- 76.65(n)    CA986627.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atg16l11 ATG16 autophagy related 16-like 1 (S. cerevisiae) 65.71(n)
    69.84(a)
      550552  NM_001017854.1  NP_001017854.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG310331 CG31033 49.44(n)
    42.18(a)
      326115  NM_170434.4  NP_733313.2 
    worm
    (Caenorhabditis elegans)
    Secernentea atg-16.16
    atg-16.26
    Protein ATG-16.2 (atg-16.2) mRNA, complete cds
    29(a)
    29(a)
    many ↔ many
    many ↔ many
    X(4459634-4462609) WBGene00017178
    II(6450930-6453391) WBGene00019427
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G502301 AT5G50230 43.9(n)
    32.15(a)
      835088  NM_124402.3  NP_199834.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g07466001 Os03g0746600 43.06(n)
    30.6(a)
      4334090  NM_001057786.1  NP_001051251.1 


    ENSEMBL Gene Tree for ATG16L1 (if available)
    TreeFam Gene Tree for ATG16L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATG16L1 gene
    NLE12  WDR832  POC1B2  WDR52  SNRNP402  WDR5B2  PAFAH1B12  SMU12  
    DAW12  WDR382  ATG16L22  POC1A2  
    7 SIMAP similar genes for ATG16L1 using alignment to 13 protein entries:     A16L1_HUMAN (see all proteins):
    FLJ10035    FLJ00045    FLJ00012    ATG16L2    POC1B    DKFZp762M0115
    GNB2L1

    Find genes that share paralogs with ATG16L1           About GenesLikeMe



    (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 ATG16L1 (see all 1054)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22418801,2,,4
    C,F,Hother1233556218(-) ATGAGC/TATCCA 10 T A mis1 ese336Minor allele frequency- N:0.00EA NA NS WA CSA EU 10423
    rs796543441,2
    C,F--233531092(+) TTGGCA/GTAAAT 5 -- us2k12Minor allele frequency- G:0.04WA 120
    rs1995833371,2
    --233531151(+) ATTTT-/TATATAT 5 -- us2k10--------
    rs753360101,2
    C--233531159(+) ATATAT/GAGAGA 5 -- us2k13Minor allele frequency- G:0.06CSA WA EA 240
    rs785318281,2
    C,F--233531161(+) ATATAG/TAGAGA 5 -- us2k11Minor allele frequency- T:0.06WA 118
    rs1453447991,2
    --233531254(+) TCGAGC/TGATGC 5 -- us2k10--------
    rs1476554281,2
    --233531255(+) CGAGCA/GATGCT 5 -- us2k10--------
    rs1902594961,2
    --233531271(+) CTCAGA/CCCCAT 5 -- us2k10--------
    rs1817633341,2
    --233531567(+) TTCTCA/GGTCAC 5 -- us2k10--------
    rs1863415331,2
    --233531599(+) TTCAGC/TGTGTG 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATG16L1 (234118697 - 234204320 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ATG16L1: --
    Human Gene Mutation Database (HGMD): ATG16L1
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ATG16L1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATG16L1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610767   
    OMIM disorders: 611081  
    UniProtKB/Swiss-Prot: A16L1_HUMAN, Q676U5
  • Inflammatory bowel disease 10 (IBD10) [MIM:611081]: A chronic, relapsing inflammation of the
    gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis
    phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most
    frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may
    contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the
    inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not
    observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • 4 diseases for ATG16L1:    
    About MalaCards
    inflammatory bowel disease 10    microvascular complications of diabetes 6    inflammatory bowel disease    crohn's disease

    2 diseases from the University of Copenhagen DISEASES database for ATG16L1:
    Crohn's disease     Ulcerative colitis

    Find genes that share disorders with ATG16L1           About GenesLikeMe

    Genetic Association Database (GAD): ATG16L1
    Human Genome Epidemiology (HuGE) Navigator: ATG16L1 (55 documents)

    Export disorders for ATG16L1 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 ATG16L1 gene, integrated from 10 sources (see all 125):
    (articles sorted by number of sources associating them with ATG16L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. (PubMed id 17200669)1, 2, 4, 9 Hampe J.... Schreiber S. (Nat. Genet. 2007)
    2. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. (PubMed id 17435756)1, 2, 4 Rioux J.D....Brant S.R. (Nat. Genet. 2007)
    3. ATG16L1 and IL23R are associated with inflammatory bowel diseases but not with celiac disease in the Netherlands. (PubMed id 18047540)1, 4, 9 Weersma R.K....Dijkstra G. (Am. J. Gastroenterol. 2008)
    4. Replication and meta-analysis of 13,000 cases defines the risk for interleukin-23 receptor and autophagy-related 16-like 1 variants in Crohn's disease. (PubMed id 20485703)1, 4, 9 Cotterill L....Newman W.G. (Can. J. Gastroenterol. 2010)
    5. NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn's disease. (PubMed id 20380008)1, 4, 9 Gazouli M....Roma-Giannikou E. (World J. Gastroenterol. 2010)
    6. Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients. (PubMed id 20066736)1, 4, 9 CsAPngei V....Melegh B. (World J. Gastroenterol. 2010)
    7. Autophagy 16-like 1 rs2241880 G allele is associated with Crohn's disease in German children. (PubMed id 19659808)1, 4, 9 Lacher M....Koletzko S. (Acta Paediatr. 2009)
    8. Association of IL23R p.381Gln and ATG16L1 p.197Ala with Crohn disease in the Czech population. (PubMed id 19590455)1, 4, 9 Dusatkova P....Cinek O. (J. Pediatr. Gastroenterol. Nutr. 2009)
    9. Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. (PubMed id 17534574)1, 4, 9 Yamazaki K....Hata A. (J. Hum. Genet. 2007)
    10. Molecular prediction of disease risk and severity in a large Dutch Crohn's disease cohort. (PubMed id 18824555)1, 4, 9 Weersma R.K....Dijkstra G. (Gut 2009)

    (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: 55054 HGNC: 21498 AceView: APG16L Ensembl:ENSG00000085978 euGenes: HUgn55054
    ECgene: ATG16L1 Kegg: 55054 H-InvDB: ATG16L1

    (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 ATG16L1 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 ATG16L1 gene:
    Search GeneIP for patents involving ATG16L1

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



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