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TUB Gene

protein-coding   GIFtS: 59
GCID: GC11P008040

Tubby Bipartite Transcription Factor

(Previous names: tubby (mouse) homolog, tubby homolog (mouse))
  See TUB-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
Tubby Bipartite Transcription Factor1 2     Tubby Homolog2
Tubby (Mouse) Homolog1     Tubby Homologue2
Tubby Homolog (Mouse)1     Tubby Protein Homolog2
rd52     

External Ids:    HGNC: 124061   Entrez Gene: 72752   Ensembl: ENSG000001664027   OMIM: 6011975   UniProtKB: P506073   

Export aliases for TUB gene to outside databases

Previous GC identifers: GC11P008828 GC11P008520 GC11P007999 GC11P008024 GC11P008016 GC11P007727


(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 TUB Gene:
This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a
role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in
mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response
to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for TUB Gene:
TUB (tubby bipartite transcription factor) is a protein-coding gene. Diseases associated with TUB include leber congenital amaurosis, and obesity. GO annotations related to this gene include G-protein coupled photoreceptor activity. An important paralog of this gene is TULP2.

UniProtKB/Swiss-Prot: TUB_HUMAN, P50607
Function: Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes
containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of
transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity).
Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages

Gene Wiki entry for TUB 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_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TUB gene promoter:
         c-Fos   Spz1   AP-1   NCX/Ncx   CUTL1   HEN1   S8   Ik-2   Zic1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TUB promoter sequence
   Search Chromatin IP Primers for TUB

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


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.5

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P008040:  view genomic region     (about GC identifiers)

Start:
8,040,791 bp from pter      End:
8,127,659 bp from pter
Size:
86,869 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: TUB_HUMAN, P50607 (See protein sequence)
Recommended Name: Tubby protein homolog  
Size: 506 amino acids; 55651 Da
Subunit: Interacts with GNAQ (By similarity). Interacts with TULP1 (By similarity)
1 PDB 3D structure from and Proteopedia for TUB:
1S31 (3D)    
Secondary accessions: D3DQU4 O00293 Q6B007
Alternative splicing: 2 isoforms:  P50607-1   P50607-2   

Explore the universe of human proteins at neXtProt for TUB: NX_P50607

Explore proteomics data for TUB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_003311.2  NP_813977.1  

    ENSEMBL proteins: 
     ENSP00000434400   ENSP00000305426   ENSP00000299506  

    TUB 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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    4 InterPro protein domains:
     IPR025659 Tubby_C-like
     IPR018066 Tubby_C_CS
     IPR005398 Tubby_N
     IPR000007 Tubby_C

    Graphical View of Domain Structure for InterPro Entry P50607

    ProtoNet protein and cluster: P50607

    2 Blocks protein domains:
    IPB000007 Tubby
    IPB005398 Tubby protein signature


    UniProtKB/Swiss-Prot: TUB_HUMAN, P50607
    Similarity: Belongs to the TUB family


    Find genes that share domains with TUB           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: TUB_HUMAN, P50607
    Function: Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes
    containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of
    transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity).
    Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages

         Genatlas biochemistry entry for TUB:
    tubby gene homolog of mouse (Tub) of mild naturity onset obesity,progressive retinal and cochlear
    degeneration,expressed in cochlea,retina,brain,testis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008020G-protein coupled photoreceptor activity IEA--
         
    Find genes that share ontologies with TUB           About GenesLikeMe


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tub):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  immune system  liver/biliary system 
     nervous system  pigmentation  vision/eye 

    Find genes that share phenotypes with TUB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tubtm1Rok for TUB

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target TUB:
    hsa-mir-320a (MIRT044577), hsa-mir-124-3p (MIRT022311), hsa-mir-744-5p (MIRT037636), hsa-mir-128-3p (MIRT021923), hsa-mir-940 (MIRT036622), hsa-mir-221-3p (MIRT024147), hsa-mir-181c-5p (MIRT047219)

    Block miRNA regulation of human, mouse, rat TUB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TUB (see all 69):
    hsa-miR-520f hsa-miR-4272 hsa-miR-128 hsa-miR-938 hsa-miR-3613-3p hsa-miR-3116 hsa-miR-2113 hsa-miR-3690
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat TUB

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    GenScript: all cDNA clones in your preferred vector (see all 2): TUB (NM_003320)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TUB

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TUB


    (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
    TUB_HUMAN, P50607: Cytoplasm (By similarity). Nucleus (By similarity). Secreted (By similarity). Cell membrane;
    Peripheral membrane protein; Cytoplasmic side (By similarity). Note=Binds phospholipid and is anchored to the
    plasma membrane through binding phosphatidylinositol 4,5-bisphosphate. Is released upon activation of
    phospholipase C. Translocates from the plasma membrane to the nucleus upon activation of guanine
    nucleotide-binding protein G(q) subunit alpha. Does not have a cleavable signal peptide and is secreted by a
    non-conventional pathway (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus4
    cytosol3
    cytoskeleton2
    extracellular2
    mitochondrion2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm TAS11000483
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with TUB           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 TUB About    
    See pathways by source

    SuperPathContained pathways About
    1ADP signalling through P2Y purinoceptor 12
    G-Protein Signaling through Tubby Protein0.35
    2Transcription Transcription factor Tubby signaling pathways
    Transcription Transcription factor Tubby signaling pathways

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TUB
        G-Protein Signaling through Tubby Protein

    1 GeneGo (Thomson Reuters) Pathway for TUB
        Transcription Transcription factor Tubby signaling pathways


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TUB
    Interactions:

        GeneGlobe Interaction Network for TUB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for TUB (P506073 ENSP000003054264) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005193, ENSP000003614234I2D: score=3 STRING: ENSP00000361423
    PLCG1P191743, ENSP000002440074I2D: score=3 STRING: ENSP00000244007
    GNAQP501483, ENSP000002865484I2D: score=2 STRING: ENSP00000286548
    LCKP062393, ENSP000003378254I2D: score=2 STRING: ENSP00000337825
    PIK3R1P279863, ENSP000002743354I2D: score=2 STRING: ENSP00000274335
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006909phagocytosis IEA--
    GO:0007602phototransduction IEA--
    GO:0007605sensory perception of sound IEA--
    GO:0009584detection of visible light ----
    GO:0009725response to hormone IEA--

    Find genes that share ontologies with TUB           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 TUB

    1 DrugBank Compound for TUB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Alpha-Glycerophospho-D-Myo-Inositol-4,5-Bis-Phosphate-- --target--10592235



    (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 TUB gene (2 alternative transcripts): 
    NM_003320.4  NM_177972.2  

    Unigene Cluster for TUB:

    Tubby homolog (mouse)
    Hs.568986  [show with all ESTs]
    Unigene Representative Sequence: NM_003320
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534099 ENST00000305253(uc010rbk.2 uc001mfy.3 uc001mga.3)
    ENST00000299506
    miRNA
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    Block miRNA regulation of human, mouse, rat TUB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TUB (see all 69):
    hsa-miR-520f hsa-miR-4272 hsa-miR-128 hsa-miR-938 hsa-miR-3613-3p hsa-miR-3116 hsa-miR-2113 hsa-miR-3690
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TUB
      QuantiTect SYBR Green Assays in human, mouse, rat TUB
      QuantiFast Probe-based Assays in human, mouse, rat TUB

    Additional mRNA sequence: 

    AK022297.1 AK293528.1 BC036400.1 BC075031.2 BC075032.2 U82467.1 

    7 DOTS entries:

    DT.100649186  DT.40125226  DT.100773456  DT.95215754  DT.92060927  DT.120705939  DT.303992 

    Selected AceView cDNA sequences (see all 72):

    BC075032 NM_003320 AA910482 BU150872 CR617957 NM_177972 BE505023 BM720656 
    BC075031 CR619255 BM679358 AA338677 AA338676 CD674811 BM975413 BM992151 
    AI672313 BI850456 AI830423 BX507893 BG029107 AL528916 BQ441192 BI551887 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TUB    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:              -     -     -     -     -                       -                                                         
    SP2:                                                                                                                        
    SP3:                          -                                                                                             
    SP4:                                                                                                                        


    ECgene alternative splicing isoforms for TUB

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


    TUB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
     
     Brain (Nervous System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Kidney (Urinary System)
    TUB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TUB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.568986
        Custom PCR Arrays for TUB
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    QuantiFast Probe-based Assays in human, mouse, rat TUB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TUB

    (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 TUB gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tub1 , 5 tubby candidate gene1, 5 90.85(n)1
    95.12(a)1
      7 (57.21 cM)5
    221411  NM_021885.41  NP_068685.11 
     1090108255 
    chicken
    (Gallus gallus)
    Aves TUB1 tubby homolog (mouse) 71.9(n)
    79.34(a)
      423061  XM_420992.4  XP_420992.3 
    lizard
    (Anolis carolinensis)
    Reptilia TUB6
    tubby bipartite transcription factor
    75(a)
    1 ↔ 1
    GL343294.1(613870-802467)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.121412 Transcribed sequence with moderate similarity to protein more 75.44(n)    BX708616.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tub1 tubby homolog (mouse) 73.92(n)
    80.5(a)
      568677  XM_005172352.1  XP_005172409.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tulp3   -- 63(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea tub-11 , 3 Tub family protein tub-13
    tub-11
    50(a)3
    57.18(n)1
    61.26(a)1
      II(8154693-8156859)3
    1743121  NM_063309.41  NP_495710.11 
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.68352 Vitis vinifera transcribed sequence with weak similarity more 79.81(n)    CB916004.1 
    rice
    (Oryza sativa)
    Liliopsida AK070139.12   -- 77.24(n)    AK070139.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TUB gene
    TULP22  TULP42  TULP12  WDR352  TULP32  
    3 SIMAP similar genes for TUB using alignment to 4 protein entries:     TUB_HUMAN (see all proteins):
    TULP3    TULP2    TULP1

    Find genes that share paralogs with TUB           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 TUB (see all 1789)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1509362691,2
    Cuntested17985255(+) GAGATC/TGGTAA 2 R W mis11Minor allele frequency- T:0.00NA 4544
    rs1380113491,2
    C--7983007(+) TCCCCA/GGTTGT 1 -- us2k10--------
    rs1124050941,2
    F--7983022(+) CAGGGG/AGTCAT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs122718741,2
    F,H--7983047(+) TAGCAC/TGGGCC 1 -- us2k15Minor allele frequency- T:0.00NS EA WA 534
    rs1909693041,2
    C--7983096(+) AGGAAA/GCTGGC 1 -- us2k10--------
    rs1822238131,2
    --7983129(+) ACCTTC/TTTTCC 1 -- us2k10--------
    rs1494870151,2
    --7983132(+) TTTTTA/TCCTGG 1 -- us2k10--------
    rs1873722521,2
    --7983193(+) AAGGAA/GACCAG 1 -- us2k10--------
    rs1156920641,2
    C,F--7983409(+) TGTGCG/ATGTGC 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1917533851,2
    --7983572(+) AGATGC/TGCTTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TUB (8040791 - 8127659 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TUB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1001231CNV Insertion20482838
    nsv428249CNV Loss18775914
    esv25122CNV Loss19812545
    nsv499766OTHER Inversion21111241
    nsv7215OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TUB
    DNA2.0 Custom Variant and Variant Library Synthesis for TUB

    (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: 601197    OMIM disorders: --

    2 diseases for TUB:    
    About MalaCards
    leber congenital amaurosis    obesity


    Find genes that share disorders with TUB           About GenesLikeMe

    Genetic Association Database (GAD): TUB
    Human Genome Epidemiology (HuGE) Navigator: TUB (10 documents)

    Export disorders for TUB 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 TUB gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with TUB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. (PubMed id 8612280)1, 2, 3 Kleyn P.W.... Moore K.J. (Cell 1996)
    2. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. (PubMed id 9096357)1, 2, 9 North M.A.... Nishina P.M. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    3. Identification of tubby and tubby-like protein 1 as eat-me signals by phage display. (PubMed id 19837063)1, 2 Caberoy N.B.... Li W. (Exp. Cell Res. 2010)
    4. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. (PubMed id 20080650)1, 4 Xu J....Isaacs W.B. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. (PubMed id 19077438)1, 4 Chung W.K....Tiwari H.K. (Hum. Hered. 2009)
    7. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    8. TUB is a candidate gene for late-onset obesity in women. (PubMed id 17955208)1, 4 Snieder H....O'Dell S.D. (Diabetologia 2008)
    9. Polymorphisms of the TUB gene are associated with body composition and eating behavior in middle-aged women. (PubMed id 18183286)1, 4 van Vliet-Ostaptchouk J.V....van der Schouw Y.T. (PLoS ONE 2008)
    10. Identification of TUB as a novel candidate gene influencing body weight in humans. (PubMed id 16443771)1, 4 Shiri-Sverdlov R....Wijmenga C. (Diabetes 2006)

    (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: 7275 HGNC: 12406 AceView: TUB Ensembl:ENSG00000166402 euGenes: HUgn7275
    ECgene: TUB H-InvDB: TUB

    (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 TUB 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 TUB gene:
    Search GeneIP for patents involving TUB

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



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