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

DNTTIP2 Gene

protein-coding   GIFtS: 50
GCID: GC01M094331

deoxynucleotidyltransferase, terminal, interacting protein...

 Explore 3 diseases affiliated with
DNTTIP2 via our new
 Human Malady Compendium 
Biological research products
for DNTTIP2
    

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

Aliases
Deoxynucleotidyltransferase, Terminal, Interacting Protein 21 2     FCF22
ERBP1 2 3     Acidic 82 KDa Protein MRNA2
TdIF21 2 3     Deoxynucleotidyltransferase Terminal-Interacting Protein 22
HSU155521 2     Estrogen Receptor Binding Protein2
TdT-Interacting Factor 22 3     TDIF23
LPTS-RP22 3     Estrogen Receptor-Binding Protein3
LPTS-Interacting Protein 22 3     Terminal Deoxynucleotidyltransferase-Interacting Factor 23

External Ids:    HGNC: 240131   Entrez Gene: 308362   Ensembl: ENSG000000673347   OMIM: 6111995   UniProtKB: Q5QJE63   

Export aliases for DNTTIP2 gene to outside databases

Previous GC identifers: GC01M094048 GC01M092453


(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 DNTTIP2:
This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds
to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal
deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive
pulmonary disease. (provided by RefSeq, Dec 2010)

UniProtKB/Swiss-Prot: TDIF2_HUMAN, Q5QJE6
Function: Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein

Gene Wiki entry for DNTTIP2


(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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNTTIP2 gene promoter:
         Elk-1   AML1a   Nkx2-2   Ik-3   HEN1   PPAR-gamma1   POU2F1   POU2F1a   PPAR-gamma2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNTTIP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNTTIP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNTTIP2


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

Entrez Gene cytogenetic band: 1p22.1   Ensembl cytogenetic band:  1p22.1   HGNC cytogenetic band: 1p22.1

DNTTIP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNTTIP2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M094331:  view genomic region     (about GC identifiers)

Start:
94,333,373 bp from pter      End:
94,345,474 bp from pter
Size:
12,102 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: TDIF2_HUMAN, Q5QJE6 (See protein sequence)
Recommended Name: Deoxynucleotidyltransferase terminal-interacting protein 2  
Size: 756 amino acids; 84469 Da
Subunit: Forms a ternary complex with DNTT and core histone; interaction with PCNA releases DNTT and H2A/H2B histones
from this ternary complex. Interacts with ESR1, ESR2, PPARG and RXRA
Subcellular location: Nucleus
Sequence caution: Sequence=AAA50601.1; Type=Frameshift; Positions=717, 726; Sequence=AAH47688.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=CAI21812.1; Type=Erroneous gene model
prediction;
Secondary accessions: Q12987 Q53H59 Q5TFJ4 Q6TLI0 Q76MJ8 Q86WX9

Explore the universe of human proteins at neXtProt for DNTTIP2: NX_Q5QJE6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5QJE6

  • DNTTIP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055412.2  
    ENSEMBL proteins: 
     ENSP00000411010   ENSP00000352137   ENSP00000434261  

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    Uscn Proteins for DNTTIP2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--


    DNTTIP2 for ontologies           About GeneDecksing



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

    DNTTIP2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR014810 Fcf2

    Graphical View of Domain Structure for InterPro Entry Q5QJE6

    ProtoNet protein and cluster: Q5QJE6


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

    Function Summary:

         UniProtKB/Swiss-Prot: TDIF2_HUMAN, Q5QJE6
    Function: Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNTTIP2

    4 GenomeRNAi human phenotypes for DNTTIP2:
     Decreased TP53 protein express  Increased S DNA content  Nuclear pre-40S maturation def  S arrest 


    (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 DNTTIP2

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

    5/31 Interacting proteins for DNTTIP2 (Q5QJE62, 3 ENSP000003521374) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST4H4P628053, ENSP000003507674I2D: score=1 STRING: ENSP00000350767
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--


    DNTTIP2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNTTIP2
    Search CenterWatch for drugs/clinical trials and news about DNTTIP2 / TDIF2 

    (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 DNTTIP2 gene: 
    NM_014597.4  

    Unigene Cluster for DNTTIP2:

    Deoxynucleotidyltransferase, terminal, interacting protein 2
    Hs.85769  [show with all ESTs]
    Unigene Representative Sequence: AK123702
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000436063(uc001dqf.3 uc010otm.2 uc009wdo.2) ENST00000462746
    ENST00000496535 ENST00000359208 ENST00000460191 ENST00000496672 ENST00000528680


    miRNA
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    Additional cDNA sequence: 

    AB046574.1 AK123702.1 AK222722.1 AK292379.1 AK308808.1 AY336729.1 AY394925.1 BC001784.1 
    BC020634.1 BC047688.1 BC063040.1 BC130622.1 BX648593.1 U15552.1 

    12 DOTS entries:

    DT.100672258  DT.100814920  DT.101983694  DT.100029296  DT.75103290  DT.121436789  DT.95271196  DT.100814916 
    DT.91767617  DT.95271197  DT.95271199  DT.95271198 

    24/228 AceView cDNA sequences (see all 228):

    CB240557 AI916666 AU154061 AA832262 BU159818 BM977201 CB143817 BU783878 
    BI711261 BU689952 W38442 BQ549663 CA445986 BU153691 BC020634 BG575661 
    BM971186 AI078150 BM511644 AI926471 BU783778 BC001784 CB136180 BU947525 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DNTTIP2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
    SP1:                                                                                    
    SP2:                                                                                    
    SP3:                    -                                                               
    SP4:                                                                                    
    SP5:                    -     -                                                         


    ECgene alternative splicing isoforms for DNTTIP2

    (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

    DNTTIP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTGAAAAAG

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

    About this image
    See DNTTIP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNTTIP2

    SOURCE GeneReport for Unigene cluster: Hs.85769

    UniProtKB/Swiss-Prot: TDIF2_HUMAN, Q5QJE6
    Tissue specificity: Widely expressed with higher levels in testis

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    In Situ
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    (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 DNTTIP2 gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnttip21 , 5 deoxynucleotidyltransferase, terminal, interacting more1, 5 75.77(n)1
    65.03(a)1
      3 (52.94 cM)5
    994801  NM_153806.11  NP_722501.11 
     1222744145 
    chicken
    (Gallus gallus)
    Aves DNTTIP21 deoxynucleotidyltransferase, terminal, interacting more 55.11(n)
    42.94(a)
      424493  XM_003641682.1  XP_003641730.1 
    lizard
    (Anolis carolinensis)
    Reptilia DNTTIP26
    --
    39(a)
    1 ↔ 1
    4(88628979-88635076)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.80712 Xenopus laevis transcribed sequence with weak similarity more 75.84(n)    BQ732066.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570550032   -- 75.73(n)   387309  57055003 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG11421 CG1142 46.83(n)
    33.33(a)
      40894  NM_176415.2  NP_788592.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y49F6B.21 Protein Y49F6B.2 43.7(n)
    34.22(a)
      173696  NM_062162.4  NP_494563.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G547706
    AT5G304956
    Fcf2 pre-rRNA processing protein
    34(a)
    33(a)
    possible ortholog
    possible ortholog
    1(20434639-20436008)
    5(11380001-11381562)
    rice
    (Oryza sativa)
    Liliopsida --
    expressed protein
    33(a)
    1 ↔ 1
    2(30426274-30428217)


    ENSEMBL Gene Tree for DNTTIP2 (if available)
    TreeFam Gene Tree for DNTTIP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/245 NCBI SNPs in DNTTIP2 are shown (see all 245    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105579101,2
    C,--94334538(+) AAAAC-/TATTAT
            
    TAAAA
    1 -- ds50010--------
    rs575564741,2
    C--94334540(+) AACTA-/TTATTA
            
    AAAAA
    1 -- ds50011Minor allele frequency- TTATTA:0.00NA 2
    rs1821100401,2
    --94334565(+) TTCATA/GTTTGC 1 -- ds50010--------
    rs1851306581,2
    --94334593(+) AGTATA/GCTGGA 1 -- ds50010--------
    rs1143687721,2
    --94334649(+) ACCAAG/ATATCA 1 -- ds50011Minor allele frequency- A:0.01WA 118
    rs66647191,2
    C,F,A,H,--94334724(+) TGGAGA/CAGAGG 1 -- ds5001 ese3 trp318Minor allele frequency- C:0.36NS EA NA CSA 2222
    rs1410271681,2
    --94334738(+) GCTGGA/GTTAAC 1 -- ds50010--------
    rs1448360551,2
    --94334747(+) ACTTCA/GAAGAA 1 -- ds50010--------
    rs114459561,2
    C,--94334766(+) AACTTA/-AAATT 1 -- ds50011Minor allele frequency- -:0.00CSA 2
    rs775375961,2
    C,--94334766(+) CAACTA/TANNNN 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for DNTTIP2 (94333373 - 94345474 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DNTTIP2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNTTIP2
    DNA2.0 Custom Variant and Variant Library Synthesis for DNTTIP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DNTTIP2 for disorders           About GeneDecksing

    OMIM gene information: 611199    OMIM disorders: --

    3 diseases for DNTTIP2:    About MalaCards
    chronic obstructive pulmonary disease    pulmonary disease    noma

    Human Genome Epidemiology (HuGE) Navigator: DNTTIP2 (2 documents)

    Export disorders for DNTTIP2 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 DNTTIP2 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with DNTTIP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ERBP, a novel estrogen receptor binding protein enhancing the activity of estrogen receptor. (PubMed id 15047147)1, 2, 3, 9 Bu H.... Zhu Y.-J. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Terminal deoxynucleotidyltransferase forms a ternary complex with a novel chromatin remodeling protein with 82 kDa and core histone. (PubMed id 12786946)1, 2 Fujita K.... Koiwai O. (2003)
    4. A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)
    5. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    6. TdIF2 is a nucleolar protein that promotes rRNA gene promoter activity. (PubMed id 21668587)1 Koiwai K....Koiwai O. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    9. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 30836 HGNC: 24013 AceView: ERBP Ensembl:ENSG00000067334 euGenes: HUgn30836
    ECgene: DNTTIP2 H-InvDB: DNTTIP2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for DNTTIP2 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 DNTTIP2 gene:
    Search GeneIP for patents involving DNTTIP2

    GeneCards and IP:
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