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

ATG16L1 Gene

protein-coding   GIFtS: 55
GCID: GC02P234118

autophagy related 16-like 1 (S. cerevisiae)

(Previous names: APG16 autophagy 16-like (S. cerevisiae), ATG16 autophagy...)
(Previous symbols: APG16L, ATG16L)
 Explore 13 diseases affiliated with
ATG16L1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATG16L1    

Aliases
for ATG16L1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Autophagy Related 16-Like 1 (S. Cerevisiae)1 2     ATG16 Autophagy Related 16-Like (S. Cerevisiae)1
APG16L1 2 3 5     ATG16 Autophagy Related 16-Like 1 (S. Cerevisiae)1
ATG16A1 2     APG16L Beta2
ATG16L1 2     ATG16 Autophagy Related 16-Like 12
WDR301 2     Autophagy-Related Protein 16-12
IBD102 5     WD Repeat Domain 302
FLJ100351     APG16-Like 13
APG16 Autophagy 16-Like (S. Cerevisiae)1     

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


Summaries
for ATG16L1 gene

(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 ATG16L1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005120.16  
Regulatory elements:
   SABiosciences 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 plasmid: ATG16L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATG16L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ATG16L1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: 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)
Sequence caution: Sequence=BAB15448.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB55412.1;
Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for ATG16L1:
4GDK (3D)        4GDL (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q676U5

    • ATG16L1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

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    Novus Biologicals ATG16L1 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ATG16L1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    ATG16L1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATG16L1

    Protein Domains /
    Families
    for ATG16L1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATG16L1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR013923 Autophagy-rel_prot_16
     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 family: IPB013923 Autophagy protein Apg16

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


    Function
    for ATG16L1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    8/46 QIAGEN miScript miRNA 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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    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    ATG16L1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Atg16l1tm1Aki for ATG16L1
         7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Atg16l1):
     cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size 
     immune system  mortality/aging 

    ATG16L1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ATG16L1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Senescence and Autophagy
    		Senescence and Autophagy1.00
    2Apoptosis and Autophagy
    		Apoptosis and Autophagy1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ATG16L1
        Apoptosis and Autophagy

    1 BioSystems Pathway for ATG16L1 
        Senescence and Autophagy



    ATG16L1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATG16L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/296 Interacting proteins for ATG16L1 (Q676U51, 2, 3 ENSP000003758724) via UniProtKB, MINT, STRING, and/or I2D (see all 296)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPL2P605201, 3EBI-535909,EBI-2973440 I2D: score=1 
    RPL9P329693I2D: score=1 
    RPL9P7P329693I2D: score=1 
    RPL9P8P329693I2D: score=1 
    RPL9P9P329693I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

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


    ATG16L1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATG16L1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 ATG16L1
    Search CenterWatch for drugs/clinical trials and news about ATG16L1 / A16L1 

    Transcripts
    for ATG16L1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/46 QIAGEN miScript miRNA 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 plasmid: ATG16L1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 

    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 

    24/202 AceView cDNA sequences (see all 202):

    CA432524 BM846001 F13421 BI753645 NM_017974 BC071846 AY358182 AL834526 
    NM_198890 AA314105 BU662843 CK300416 NM_030803 CK821017 BU860551 AI014359 
    BM473553 AK001690 AA677724 AI438995 BI793098 AI570313 AK000897 AK123876 

    GeneLoc Exon Structure

    5/15 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

    Expression
    for ATG16L1 gene

    (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

    ATG16L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTGTTCTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ATG16L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATG16L1

    SOURCE GeneReport for Unigene cluster: Hs.529322
        SABiosciences Expression via Pathway-Focused PCR Arrays including ATG16L1: 
              Autophagy in human mouse rat
              Cell Death PathwayFinder in human mouse rat

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    In Situ
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    Orthologs
    for ATG16L1 gene

    (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 eukaryotes.

    Orthologs for ATG16L1 gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ATG16L11 ATG16 autophagy related 16-like 1 (S. cerevisiae) 80.12(n)
    86.33(a)    		   424746  XM_422568.3  XP_422568.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ATG16L16
    		 --
    		 86(a)
    		 1 ↔ 1
    		 3(35931201-35951962)
    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-16.11 Protein ATG-16.1 45.74(n)
    34.89(a)    		   180717  NM_076367.2  NP_508768.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G502301 transducin/WD40 domain-containing protein 43.51(n)
    31.82(a)    		   835088  NM_124402.3  NP_199834.2 
    rice
    (Oryza sativa)    		 Liliopsida Os03g07466001 hypothetical protein 41.76(n)
    27.72(a)    		   4334090  NM_001057786.1  NP_001051251.1 


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

    Paralogs
    for ATG16L1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATG16L1 gene
    POC1B2  WDR832  WDR52  WDR882  SNRNP402  WDR5B2  KATNB12  PAFAH1B12  
    PRPF42  DAW12  WDR382  ATG16L22  POC1A2  WDSUB12  
    6 SIMAP similar genes for ATG16L1 using alignment to 13 protein entries:     A16L1_HUMAN (see all proteins):
    FLJ10035    FLJ00045    FLJ00012    ATG16L2    POC1B    DKFZp762M0115

    ATG16L1 for paralogs           About GeneDecksing



    Genomic Variants
    for ATG16L1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/858 NCBI SNPs in ATG16L1 are shown (see all 858)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs22418801,2
    		C,F,H,other234183368(-) ATGAGC/TATCCA 11 T A mis1 us2k1 ese336Minor allele frequency- N:0.00EA NA NS WA CSA EU 10423
    rs796543441,2
    		C,--225959017(+) TTGGCA/GTAAAT 5 -- us2k12Minor allele frequency- G:0.04WA 120
    rs785318281,2
    		F,--225959086(+) ATATAG/TAGAGA 5 -- us2k11Minor allele frequency- T:0.06WA 118
    rs744026501,2
    		C,--225959903(+) TCATCC/TCCCCC 5 -- us2k10--------
    rs758241261,2
    		--225959943(+) CTAAGG/CCTCCA 5 -- us2k11Minor allele frequency- C:0.01NA 120
    rs775056721,2
    		C,F,--225960094(+) TGTTTC/TCAAGT 5 -- us2k11Minor allele frequency- T:0.02WA 118
    rs124766351,2
    		C,F,H,--225960460(+) GCCATT/CAGGCT 5 -- us2k15Minor allele frequency- C:0.15NA WA EA 364
    rs799173761,2
    		C,F,--225960474(+) GTTTTT/GGGGTT 5 -- us2k11Minor allele frequency- G:0.04WA 118
    rs745995771,2
    		F,--225960533(+) GTCCAA/TGATGG 5 -- us2k12Minor allele frequency- T:0.02WA NA 238
    rs602127451,2
    		C,--225960545(+) AATGCT/CCCTGC 5 -- us2k12Minor allele frequency- C:0.10WA 120

    HapMap Linkage Disequilibrium report for ATG16L1 (234118697 - 234204320 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATG16L1: --
    Human Gene Mutation Database (HGMD): ATG16L1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for ATG16L1 gene

    (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.)
    About This Section
    ATG16L1 for disorders           About GeneDecksing

    OMIM gene information: 610767   
    OMIM disorders: 611081  
    UniProtKB/Swiss-Prot: A16L1_HUMAN, Q676U5
  • Genetic variations in ATG16L1 are associated with susceptibility to inflammatory bowel disease type 10 (IBD10)
    • [MIM:611081]. IBD is characterized by a chronic relapsing intestinal inflammation. IBD is subdivided into Crohn
    disease (CD) and ulcerative colitis phenotypes. IBD10 individuals show the phenotype characteristic to CD. It may
    involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. CD is commonly
    classified as autoimmune disease

    13 diseases for ATG16L1:    About MalaCards
    inflammatory bowel disease    sclerosing cholangitis    inflammatory bowel disease 10    primary sclerosing cholangitis
    primary biliary cirrhosis    pediatric crohns disease    ankylosing spondylitis    cholangitis
    crohn's disease    ulcerative colitis    spondylitis    celiac disease
    huntington's disease

    2 diseases from the University of Copenhagen DISEASES database for ATG16L1:
    Crohn's disease     Ulcerative colitis
    Human Genome Epidemiology (HuGE) Navigator: ATG16L1 (55 documents)

    Export disorders for ATG16L1 gene to outside databases

    Publications
    for ATG16L1 gene

    (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 ATG16L1 gene, integrated from 9 sources (see all 107):
    (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, 9 Hampe J.... Schreiber S. (2007)
    2. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. (PubMed id 17435756)1, 2 Rioux J.D....Brant S.R. (2007)
    3. Cloning and analysis of human Apg16L. (PubMed id 15620219)1, 2 Zheng H....Xie Y. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    7. ATG16L1 and IL23R are associated with inflammatory bowel diseases but not with celiac disease in the Netherlands. (PubMed id 18047540)1, 9 Weersma R.K....Dijkstra G. (2008)
    8. 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, 9 Cotterill L....Newman W.G. (2010)
    9. A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells. (PubMed id 18849966)1, 9 Cadwell K....Virgin H.W. (2008)
    10. NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn's disease. (PubMed id 20380008)1, 9 Gazouli M....Roma-Giannikou E. (2010)

    External Searches for ATG16L1 gene

    (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)

    Genome Databases showing ATG16L1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55054 HGNC: 21498 AceView: APG16L Ensembl:ENSG00000085978 euGenes: HUgn55054
    ECgene: ATG16L1 H-InvDB: ATG16L1

    Other Databases showing ATG16L1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATG16L1 gene

    (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 ATG16L1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ATG16L1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

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