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TULP2 Gene

protein-coding   GIFtS: 56
GCID: GC19M049384

Tubby Like Protein 2

  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
Tubby Like Protein 21 2     TUBL22 3
Cancer/Testis Antigen 651 2 3     Cancer Testis Antigen 652
Tubby-Like Protein 22 3     Tubby-Related Protein 22
CT652 3     

External Ids:    HGNC: 124241   Entrez Gene: 72882   Ensembl: ENSG000001048047   OMIM: 6023095   UniProtKB: O002953   

Export aliases for TULP2 gene to outside databases

Previous GC identifers: GC19M050042 GC19M049751 GC19M054060 GC19M054076 GC19M045760


(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 TULP2 Gene:
TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of
this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved
C-terminal region of approximately 200 amino acid residues. (provided by RefSeq, Jul 2008)

GeneCards Summary for TULP2 Gene:
TULP2 (tubby like protein 2) is a protein-coding gene. Diseases associated with TULP2 include retinal degeneration, and retinitis. An important paralog of this gene is TULP4.




(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_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TULP2 gene promoter:
         STAT1   RP58   Olf-1   CUTL1   Tal-1beta   E47   AREB6   Ik-2   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTULP2 promoter sequence
   Search Chromatin IP Primers for TULP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TULP2


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.1

TULP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TULP2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M049384:  view genomic region     (about GC identifiers)

Start:
49,384,222 bp from pter      End:
49,401,996 bp from pter
Size:
17,775 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: TULP2_HUMAN, O00295 (See protein sequence)
Recommended Name: Tubby-related protein 2  
Size: 520 amino acids; 58664 Da
Secondary accessions: Q8TC50

Explore the universe of human proteins at neXtProt for TULP2: NX_O00295

Explore proteomics data for TULP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TULP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003314.2  
    ENSEMBL proteins: 
     ENSP00000221399   ENSP00000429131   ENSP00000428420   ENSP00000430040   ENSP00000428535  

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    Cloud-Clone Corp. CLIAs for TULP2


    (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 O00295

    ProtoNet protein and cluster: O00295

    1 Blocks protein domain: IPB000007 Tubby

    UniProtKB/Swiss-Prot: TULP2_HUMAN, O00295
    Similarity: Belongs to the TUB family


    TULP2 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:
         Genatlas biochemistry entry for TULP2:
    tubby-like protein 2,weakly expressed in retina,highly in testis

    Phenotypes:
         2 GenomeRNAi human phenotypes for TULP2:
     Decreased Wnt reporter activit  Increased gamma-H2AX phosphory 

         1 MGI phenotypic allele for Tulp2 (no phenotypes)

    TULP2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TULP2
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    miRNA
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    miRTarBase miRNAs that target TULP2:
    hsa-mir-26b-5p (MIRT029936)

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    (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
    TULP2_HUMAN, O00295: Cytoplasm (By similarity). Secreted (By similarity). Note=Does not have a cleavable signal
    peptide and is secreted by a non-conventional pathway (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    extracellular2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--

    TULP2 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 TULP2
    Interactions:

        Search GeneGlobe Interaction Network for TULP2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for TULP2 (O002952, 3 ENSP000002213994) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEOX2P502222, 3, ENSP000002620414MINT-67735 I2D: score=5 STRING: ENSP00000262041
    EWSR1Q018443, ENSP000003810314I2D: score=3 STRING: ENSP00000381031
    TBC1D5ENSP000004029354STRING: ENSP00000402935
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    --Q9BWA23, 2MINT-66842 I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception TAS9096357

    TULP2 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 TULP2



    (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 TULP2 gene: 
    NM_003323.2  

    Unigene Cluster for TULP2:

    Tubby like protein 2
    Hs.104636  [show with all ESTs]
    Unigene Representative Sequence: NM_003323
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221399(uc002pkz.2) ENST00000522341 ENST00000518572 ENST00000522945
    ENST00000520977 ENST00000522229
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TULP2
      QuantiFast Probe-based Assays in human, mouse, rat TULP2

    Additional mRNA sequence: 

    BC026070.2 U82469.1 

    1 DOTS entry:

    DT.308924 

    Selected AceView cDNA sequences (see all 27):

    AW452476 BX103015 U82469 AA460020 BI827967 NM_003323 AI917810 AW274889 
    BC026070 BI464372 BG772536 AW594133 AW590860 AI806947 BF061810 AA961794 
    BI828528 AW873490 AI654642 AA884015 AA883213 AI027650 AA514711 AI631622 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TULP2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                                                                              
    SP2:                                                              -               


    ECgene alternative splicing isoforms for TULP2

    (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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    TULP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTTCTGCT
    TULP2 Expression
    About this image


    TULP2 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
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Growth Plate
     
     Ovary (Reproductive System)
             Mature follicles
     
     Testis (Reproductive System)
    TULP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TULP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.104636

    UniProtKB/Swiss-Prot: TULP2_HUMAN, O00295
    Tissue specificity: Strongly expressed in testis. Also expressed in retina. Expressed in cancer cell lines

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TULP2

    (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.

    Orthologs for TULP2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tulp21 , 5 tubby-like protein 21, 5 68.82(n)1
    58.59(a)1
      7 (29.33 cM)5
    567341  NM_008807.21  NP_032833.21 
     454862625 
    lizard
    (Anolis carolinensis)
    Reptilia TULP26
    tubby like protein 2
    32(a)
    1 ↔ 1
    GL343355.1(541082-563083)
    zebrafish
    (Danio rerio)
    Actinopterygii TULP26
    tubby like protein 2
    31(a)
    1 ↔ 1
    12(21970133-21978175) ENSDARG00000062902
    fruit fly
    (Drosophila melanogaster)
    Insecta king-tubby6
    king tubby
    36(a)
    1 → many
    2R(16989435-17011220)
    worm
    (Caenorhabditis elegans)
    Secernentea tub-13 Tub family protein tub-1 49(a)   II(8154693-8156859)   --


    ENSEMBL Gene Tree for TULP2 (if available)
    TreeFam Gene Tree for TULP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TULP2 gene
    TULP42  TUB2  TULP12  WDR352  TULP32  
    3 SIMAP similar genes for TULP2 using alignment to 5 protein entries:     TULP2_HUMAN (see all proteins):
    TULP1    TUB    TULP3

    TULP2 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 TULP2 (see all 520)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1135001951,2
    C,F--49383755(+) GACGGG/AGTTTG 1 -- int11Minor allele frequency- A:0.03NA 120
    rs1443967411,2
    C--49383832(+) TGTTGA/GGATTC 1 -- int10--------
    rs1867654121,2
    --49383912(+) AAGTGA/GAGCTA 1 -- int10--------
    rs1390713591,2
    --49383988(+) GCTGGA/GATTAC 1 -- int10--------
    rs1499092401,2
    --49384057(+) ATGTTC/GGCCAG 1 -- int10--------
    rs1448785481,2
    --49384072(+) GTCTCA/GATCTC 1 -- int10--------
    rs99733101,2
    C,F,A,H--49384074(+) CTCGAT/ACTCCT 1 -- int18Minor allele frequency- A:0.21NA CSA EA 251
    rs1153881161,2
    C,F--49384272(+) TCTAAT/CTGAAA 2 /N /S mis12Minor allele frequency- C:0.00WA NA 4670
    rs1453630541,2
    C,F--49384276(+) ATTGAA/GACTGG 2 L F mis11Minor allele frequency- G:0.00NA 4552
    rs1493978641,2
    C--49384284(+) TGGACA/GAGCAG 2 S L mis11Minor allele frequency- G:0.00NA 4552

    HapMap Linkage Disequilibrium report for TULP2 (49384222 - 49401996 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for TULP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670526CNV Deletion23128226
    nsv833855CNV Loss17160897
    nsv833856CNV Loss17160897
    nsv912245CNV Loss21882294
    nsv470148CNV Gain18288195
    dgv3969n71CNV Gain21882294
    nsv9739CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TULP2
    DNA2.0 Custom Variant and Variant Library Synthesis for TULP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602309    OMIM disorders: --

    2 diseases for TULP2:    
    About MalaCards
    retinal degeneration    retinitis


    TULP2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for TULP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinal degeneration 76.2 1 9096357 (1)


    Export disorders for TULP2 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 TULP2 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with TULP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3, 9 North M.A.... Nishina P.M. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    3. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PubMed id 21248752)2 Varela I....Futreal P.A. (Nature 2011)
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    5. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    6. Identification of cancer/testis-antigen genes by massively parallel signature sequencing. (PubMed id 15905330)2 Chen Y.-T.... Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Tubby proteins: the plot thickens. (PubMed id 14708010)1 Carroll K....Shapiro L. (Nat. Rev. Mol. Cell Biol. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Implication of tubby proteins as transcription factors by structure-based functional analysis. (PubMed id 10591637)1 Boggon T.J....Shapiro L. (Science 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 7288 HGNC: 12424 AceView: TULP2 Ensembl:ENSG00000104804 euGenes: HUgn7288
    ECgene: TULP2 H-InvDB: TULP2

    (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 TULP2 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 TULP2 gene:
    Search GeneIP for patents involving TULP2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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