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TOM1L2 Gene

protein-coding   GIFtS: 54
GCID: GC17M017746

Target Of Myb1-Like 2 (Chicken)

(Previous name: target of myb1 (chicken) homolog-like 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Target Of Myb1-Like 2 (Chicken)1 2
Target Of Myb-Like Protein 22 3
Target Of Myb1 (Chicken) Homolog-Like 11
TOM1-Like Protein 22

External Ids:    HGNC: 119841   Entrez Gene: 1466912   Ensembl: ENSG000001756627   OMIM: 6155195   UniProtKB: Q6ZVM73   

Export aliases for TOM1L2 gene to outside databases

Previous GC identifers: GC17U990153 GC17M017693 GC17M017950 GC17M017691 GC17M017688 GC17M017500


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TOM1L2 Gene:
TOM1L2 (target of myb1-like 2 (chicken)) is a protein-coding gene. Diseases associated with TOM1L2 include smith magenis syndrome, and medulloblastoma. An important paralog of this gene is STAM2.

UniProtKB/Swiss-Prot: TM1L2_HUMAN, Q6ZVM7
Function: Probable role in protein transport. May regulate growth factor-induced mitogenic signaling

Gene Wiki entry for TOM1L2 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:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TOM1L2 gene promoter:
         SRF   HOXA9   AML1a   p53   SRF (504 AA)   LUN-1   Nkx2-5   Evi-1   Arnt   CP2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTOM1L2 promoter sequence
   Search Chromatin IP Primers for TOM1L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TOM1L2


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

TOM1L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOM1L2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M017746:  view genomic region     (about GC identifiers)

Start:
17,746,822 bp from pter      End:
17,875,784 bp from pter
Size:
128,963 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TM1L2_HUMAN, Q6ZVM7 (See protein sequence)
Recommended Name: TOM1-like protein 2  
Size: 507 amino acids; 55556 Da
Subunit: Interacts with clathrin, SRC and TOLLIP
Sequence caution: Sequence=AAL78338.1; Type=Frameshift; Positions=101, 121, 170;
Secondary accessions: B7Z7F4 Q86V61 Q8TDE7 Q96M88
Alternative splicing: 4 isoforms:  Q6ZVM7-1   Q6ZVM7-2   Q6ZVM7-3   Q6ZVM7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TOM1L2: NX_Q6ZVM7

Explore proteomics data for TOM1L2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys101, Lys106, Lys145, Lys147, Lys400, Lys462
  • Modification sites at PhosphoSitePlus

  • See TOM1L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001028723.1  NP_001076437.1  NP_001275715.1  NP_001275716.1  NP_001275717.1  NP_001275718.1  

    ENSEMBL proteins: 
     ENSP00000464297   ENSP00000463313   ENSP00000368818   ENSP00000312860   ENSP00000379088  
     ENSP00000438621   ENSP00000437655   ENSP00000445188   ENSP00000465677   ENSP00000466863  

    TOM1L2 Human Recombinant Protein Products:

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    Novus Biologicals TOM1L2 Lysate
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    Cloud-Clone Corp. Proteins for TOM1L2

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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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    Selected InterPro protein domains (see all 6):
     IPR002014 VHS
     IPR004152 GAT
     IPR027429 TOM1L2
     IPR018205 VHS_subgr
     IPR008942 ENTH_VHS

    Graphical View of Domain Structure for InterPro Entry Q6ZVM7

    ProtoNet protein and cluster: Q6ZVM7

    2 Blocks protein domains:
    IPB002014 VHS
    IPB004152 GAT domain


    UniProtKB/Swiss-Prot: TM1L2_HUMAN, Q6ZVM7
    Domain: The GAT domain mediates interaction with TOLLIP
    Similarity: Belongs to the TOM1 family
    Similarity: Contains 1 GAT domain
    Similarity: Contains 1 VHS domain


    TOM1L2 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: TM1L2_HUMAN, Q6ZVM7
    Function: Probable role in protein transport. May regulate growth factor-induced mitogenic signaling

         Genatlas biochemistry entry for TOM1L2:
    v-Myb target gene-like 2,retroviral oncogene,involved in transformation of myelomonoctic cells,in the
    Smith-Magenis critical region

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16412388
    GO:0019901protein kinase binding IPI16479011
    GO:0030276clathrin binding IDA16412388
         
    TOM1L2 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 1 allele(MGI details for Tom1l2) (see all 16):
     adipose tissue  behavior/neurological  cardiovascular system  craniofacial  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  immune system  integument  nervous system 
     renal/urinary system  reproductive system  respiratory system  skeleton  tumorigenesis 

    TOM1L2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TOM1L2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TOM1L2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TOM1L2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TOM1L2

    miRNA
    Products:
        
    miRTarBase miRNAs that target TOM1L2:
    hsa-mir-19b-3p (MIRT031250), hsa-mir-26b-5p (MIRT030189), hsa-mir-148b-3p (MIRT019484), hsa-mir-130b-3p (MIRT020320)

    Block miRNA regulation of human, mouse, rat TOM1L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TOM1L2 (see all 40):
    hsa-miR-194* hsa-miR-4254 hsa-miR-642a hsa-miR-520f hsa-miR-301a hsa-miR-519a hsa-miR-548m hsa-miR-1183
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TOM1L2
    Predesigned siRNA for gene silencing in human, mouse, rat TOM1L2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TOM1L2

    Clone
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    OriGene clones in human, mouse for TOM1L2 (see all 14)
    OriGene ORF clones in mouse, rat for TOM1L2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TOM1L2 (NM_001033551)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOM1L2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOM1L2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TOM1L2
    Browse ESI BIO Cell Lines and PureStem Progenitors for TOM1L2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOM1L2


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    endosome2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    TOM1L2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TOM1L2
    Interactions:

        GeneGlobe Interaction Network for TOM1L2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for TOM1L2 (Q6ZVM73 ENSP000003688184) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOLLIPQ9H0E23, ENSP000003147334I2D: score=3 STRING: ENSP00000314733
    LAPTM5Q135713I2D: score=3 
    RNF11Q9Y3C53I2D: score=3 
    EGFRP005333I2D: score=1 
    CLTCENSP000002691224STRING: ENSP00000269122
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0007165signal transduction IDA16479011
    GO:0045839negative regulation of mitosis IDA16479011

    TOM1L2 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for TOM1L2 (TM1L2)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TOM1L2 gene (7 alternative transcripts): 
    NM_144678.3  NM_001033551.2  NM_001082968.1  NM_001288786.1  NM_001288787.1  NM_001288788.1  NM_001288789.1  

    Unigene Cluster for TOM1L2:

    Target of myb1-like 2 (chicken)
    Hs.462379  [show with all ESTs]
    Unigene Representative Sequence: NM_001082968
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000581396(uc002grv.4 uc002grz.4 uc002gry.4 uc010vwy.2 uc010cpr.3 uc010vwz.2 uc010vxa.2)
    ENST00000478943 ENST00000379504 ENST00000318094 ENST00000577794 ENST00000395739
    ENST00000535933 ENST00000540946 ENST00000486413 ENST00000542206 ENST00000468944
    ENST00000577517 ENST00000537091(uc010vxb.2) ENST00000579586
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TOM1L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TOM1L2 (see all 40):
    hsa-miR-194* hsa-miR-4254 hsa-miR-642a hsa-miR-520f hsa-miR-301a hsa-miR-519a hsa-miR-548m hsa-miR-1183
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TOM1L2
    Predesigned siRNA for gene silencing in human, mouse, rat TOM1L2
    Clone
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    OriGene clones in human, mouse for TOM1L2 (see all 14)
    OriGene ORF clones in mouse, rat for TOM1L2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TOM1L2 (NM_001033551)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOM1L2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOM1L2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TOM1L2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TOM1L2
      QuantiTect SYBR Green Assays in human, mouse, rat TOM1L2
      QuantiFast Probe-based Assays in human, mouse, rat TOM1L2

    Additional mRNA sequence: 

    AF038192.1 AK055959.1 AK057308.1 AK124331.1 AK294846.1 AK295111.1 AK299872.1 AK301944.1 
    AK303305.1 AL133641.1 AY358769.1 BC051650.1 

    18 DOTS entries:

    DT.214806  DT.40317395  DT.101978294  DT.40206939  DT.100791262  DT.120893433  DT.91759435  DT.120893408 
    DT.91893600  DT.97771130  DT.99971568  DT.100791264  DT.120893367  DT.101965419  DT.40268049  DT.75138915 
    DT.91893536  DT.91996847 

    Selected AceView cDNA sequences (see all 181):

    BQ670241 BF589523 AI874411 BF436829 AL699152 BG152505 AI191415 AI079971 
    BU729407 CD672488 T72258 F11076 AA399639 BM703482 CA388796 BX093118 
    AI423798 BE464966 AI222548 BQ669270 Z39006 AK057308 N54155 AI146333 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TOM1L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAATACTC
    TOM1L2 Expression
    About this image


    TOM1L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Thyroid (Endocrine System)
    TOM1L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TOM1L2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.462379

    UniProtKB/Swiss-Prot: TM1L2_HUMAN, Q6ZVM7
    Tissue specificity: Ubiquitously expressed with higher expression in heart and skeletal muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOM1L2

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

    Orthologs for TOM1L2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tom1l21 , 5 target of myb1-like 2 (chicken)1, 5 87.64(n)1
    94.87(a)1
      11 (37.81 cM)5
    2168101  NM_153080.21  NP_694720.21 
     602267155 
    chicken
    (Gallus gallus)
    Aves TOM1L21 target of myb1-like 2 79.68(n)
    92.11(a)
      416509  NM_001270967.1  NP_001257896.1 
    lizard
    (Anolis carolinensis)
    Reptilia TOM1L26
    target of myb1-like 2 (chicken)
    71(a)
    1 ↔ 1
    GL343977.1(75936-118072)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.14822 Xenopus laevis transcribed sequence with weak similarity more 77(n)    BJ072276.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005356151 TOM1-like protein 2-like 70.36(n)
    75.64(a)
      100535615  XM_005171662.1  XP_005171719.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG35291 CG3529 53.31(n)
    48.97(a)
      39093  NM_140058.3  NP_648315.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C07A12.71 C07A12.7 55.18(n)
    52.62(a)
      180723  NM_076376.4  NP_508777.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GGA2(YHR108W)4 Protein that interacts with and regulates Arf1p and more   --   8(328303-330060) 856508  NP_011976.1 


    ENSEMBL Gene Tree for TOM1L2 (if available)
    TreeFam Gene Tree for TOM1L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TOM1L2 gene
    STAM22  TOM1L12  TOM12  STAM2  
    4 SIMAP similar genes for TOM1L2 using alignment to 6 protein entries:     TM1L2_HUMAN (see all proteins):
    TOM1    GGA3    TOM1L1    GGA1

    TOM1L2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TOM1L2 (see all 2177)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116528831,2
    C,F,H--17746649(+) ACAACC/ATGGGC 2 -- int15Minor allele frequency- A:0.00NS EA NA 404
    rs65026181,2
    C,F,H--17746741(+) TGGCCG/ACCCCT 2 -- int111Minor allele frequency- A:0.36NA WA CSA 254
    rs575255321,2
    C--17746979(+) AACAC-/ATGACAG 2 -- ut310--------
    rs1391430171,2
    --17747116(+) TATCCA/GTCCCC 2 -- ut310--------
    rs1425585391,2
    --17747127(+) CTCTCC/TGGGAG 2 -- ut310--------
    rs1159015421,2
    C,F--17747204(+) GTGGCC/TGCAGG 2 -- ut311Minor allele frequency- T:0.01WA 118
    rs1162628341,2
    C,F--17747251(+) GGTGAC/TGGGCA 2 -- ut311Minor allele frequency- T:0.03WA 118
    rs1927642651,2
    --17747268(+) GAGGCA/GAGCAC 2 -- ut310--------
    rs31837021,2
    C,F,A,H--17747289(-) CATTGT/CCTGTC 2 -- ut3125Minor allele frequency- C:0.43MN NS EA NA WA CSA 2525
    rs1854316751,2
    C--17747301(+) CTCTGA/GGGTGG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for TOM1L2 (17746822 - 17875784 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TOM1L2 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv510701CNV Loss20534489
    nsv522668CNV Loss19592680
    dgv3072n71CNV Loss21882294
    nsv907768CNV Loss21882294
    dgv3074n71CNV Loss21882294
    dgv3073n71CNV Loss21882294
    nsv833385CNV Loss17160897
    nsv907766CNV Loss21882294
    nsv907748CNV Loss21882294
    dgv3076n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (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: 615519    OMIM disorders: --

    7 diseases for TOM1L2:    
    About MalaCards
    smith magenis syndrome    medulloblastoma    dementia    thyroiditis
    cerebritis    malaria    prostatitis


    TOM1L2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TOM1L2
    Human Genome Epidemiology (HuGE) Navigator: TOM1L2 (1 document)

    Export disorders for TOM1L2 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 TOM1L2 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with TOM1L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PubMed id 20167577)1, 4 Reynolds C.A....Prince J.A. (Hum. Mol. Genet. 2010)
    2. Recruitment of clathrin onto endosomes by the Tom1-Tollip complex. (PubMed id 16412388)1, 2 Katoh Y.... Nakayama K. (Biochem. Biophys. Res. Commun. 2006)
    3. The adaptor protein Tom1L1 is a negative regulator of Src mitogenic signaling induced by growth factors. (PubMed id 16479011)1, 2 Franco M.... Roche S. (Mol. Cell. Biol. 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 2004)
    6. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PubMed id 11997338)1, 2 Bi W....Lupski J.R. (Genome Res. 2002)
    7. Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes. (PubMed id 10036180)1, 3 Seranski P....Poustka A. (Genomics 1999)
    8. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    9. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (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)
    About This Section

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    Entrez Gene: 146691 HGNC: 11984 AceView: TOM1L2 Ensembl:ENSG00000175662 euGenes: HUgn146691
    ECgene: TOM1L2 H-InvDB: TOM1L2

    (According to HUGE)
    About This Section

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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 TOM1L2 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for TOM1L2 gene:
    Search GeneIP for patents involving TOM1L2

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



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