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

TULP2 Gene

protein-coding   GIFtS: 54
GCID: GC19M049384

tubby like protein 2

 Explore 3 diseases affiliated with
TULP2 via our new
 Human Malady Compendium 
Biological research products
for TULP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tubby Like Protein 21 2     Tubby-Like Protein 22 3
CT651 2 3     Cancer Testis Antigen 652
TUBL21 2 3     Tubby-Related Protein 22
Cancer/Testis Antigen 652 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TULP2:
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)




(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_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TULP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: TULP2_HUMAN, O00295 (See protein sequence)
Recommended Name: Tubby-related protein 2  
Size: 520 amino acids; 58664 Da
Subcellular location: Cytoplasm (By similarity). Secreted (By similarity). Note=Does not have a cleavable signal
peptide and is secreted by a non-conventional pathway (By similarity)
Secondary accessions: Q8TC50

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00295

  • TULP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003314.2  
    ENSEMBL proteins: 
     ENSP00000221399   ENSP00000429131   ENSP00000428420   ENSP00000430040   ENSP00000428535  
     ENSP00000429658  

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    Novus Biologicals TULP2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TULP2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    TULP2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TULP2


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

    TULP2 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB000007 Tubby

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


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

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TULP2

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

    Animal Models:
         1 MGI phenotypic allele for Tulp2 (no phenotypes)

    TULP2 for phenotypes           About GeneDecksing


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TULP2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for TULP2 (O002952, 3 ENSP000002213994) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEOX2P502222, 3, ENSP000002620414MINT-67735 I2D: score=5 STRING: ENSP00000262041
    EWSR1Q018443, ENSP000003810314I2D: score=3 STRING: ENSP00000381031
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    --Q9BWA23, 2MINT-66842 I2D: score=1 
    --Q9BWA23, 2MINT-66842 I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    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 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
    EMD Millipore small molecules for TULP2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TULP2
    Search CenterWatch for drugs/clinical trials and news about TULP2 

    (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 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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    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TULP2 (see all 7)
    OriGene shRNA RFP: TULP2
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    Additional cDNA sequence: 

    BC026070.2 U82469.1 

    1 DOTS entry:

    DT.308924 

    24/27 AceView cDNA sequences (see all 27):

    BX103015 AA460020 U82469 NM_003323 BI827967 AW452476 BC026070 AW594133 
    AW274889 AI806947 BI828528 AA961794 BF061810 AW590860 AI917810 BI464372 
    BG772536 AI654642 AW873490 AA884015 AA883213 AI027650 AI631622 AA723710 

    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™, 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

    TULP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACTTCTGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    TULP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mature follicles (In-vitro growth and ...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TULP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TULP2

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TULP2 gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tulp21 , 5 tubby-like protein 21, 5 69.07(n)1
    57.59(a)1
      7 (29.33 cM)5
    567341  NM_008807.21  NP_032833.21 
     454862625 
    lizard
    (Anolis carolinensis)
    Reptilia TULP26
    --
    40(a)
    1 ↔ 1
    GL343355.1(542191-560653)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-220f10.46
    si:dkey-220f10.4
    31(a)
    1 ↔ 1
    12(21970133-21978175)
    fruit fly
    (Drosophila melanogaster)
    Insecta king-tubby6
    king tubby
    33(a)
    1 → many
    2R(16989435-17011220)
    worm
    (Caenorhabditis elegans)
    Secernentea tub-13 Tub family protein tub-1 49(a)   II(8154693-8156859)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TLP116
    TLP36
    (see all 11)
    Tubby-like F-box protein 3
    (see all 11)
    26(a)
    24(a)
    (see all 11)
    many ↔ many
    many ↔ many
    (see all 11)
    5(6228165-6230537)
    2(19610923-19613232)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 14)
    OsFBT11 - F-box and tubby domain containing protei...
    OsFBT1 - F-box and tubby domain containing protein...
    (see all 14)
    25(a)
    25(a)
    (see all 14)
    many ↔ many
    many ↔ many
    (see all 14)
    7(28172007-28175827)
    1(27715144-27720173)


    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)
    About This Section
    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, 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

    10/404 NCBI SNPs in TULP2 are shown (see all 404    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
    --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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for TULP2
         3 CNVs: 5108 5107 32261

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    TULP2 for disorders           About GeneDecksing

    OMIM gene information: 602309    OMIM disorders: --

    3 diseases for TULP2:    About MalaCards
    retinal degeneration    retinitis    neuronitis

    1 Novoseek 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)
    About This Section

    PubMed articles for TULP2 gene, integrated from 9 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. (1997)
    2. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (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. (2011)
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    5. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    6. Identification of cancer/testis-antigen genes by massively parallel signature sequencing. (PubMed id 15905330)2 Chen Y.-T.... Simpson A.J.G. (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. (2004)
    8. Tubby proteins: the plot thickens. (PubMed id 14708010)1 Carroll K....Shapiro L. (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. (2002)
    10. Implication of tubby proteins as transcription factors by structure-based functional analysis. (PubMed id 10591637)1 Boggon T.J....Shapiro L. (1999)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7288 HGNC: 12424 AceView: TULP2 Ensembl:ENSG00000104804 euGenes: HUgn7288
    ECgene: TULP2 H-InvDB: TULP2

    (According to HUGE)
    About This Section
      --

    (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 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

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