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Aliases for DNTTIP2 Gene

Aliases for DNTTIP2 Gene

  • Deoxynucleotidyltransferase Terminal Interacting Protein 2 2 3 5
  • Acidic 82 KDa Protein MRNA 2 3
  • LPTS-Interacting Protein 2 3 4
  • TdT-Interacting Factor 2 3 4
  • LPTS-RP2 3 4
  • TdIF2 3 4
  • ERBP 3 4
  • Deoxynucleotidyltransferase, Terminal, Interacting Protein 2 2
  • Deoxynucleotidyltransferase Terminal-Interacting Protein 2 3
  • Terminal Deoxynucleotidyltransferase-Interacting Factor 2 4
  • Estrogen Receptor Binding Protein 3
  • Estrogen Receptor-Binding Protein 4
  • HSU15552 3
  • FCF2 3

External Ids for DNTTIP2 Gene

Previous GeneCards Identifiers for DNTTIP2 Gene

  • GC01M094048
  • GC01M094331
  • GC01M092453

Summaries for DNTTIP2 Gene

Entrez Gene Summary for DNTTIP2 Gene

  • 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]

GeneCards Summary for DNTTIP2 Gene

DNTTIP2 (Deoxynucleotidyltransferase Terminal Interacting Protein 2) is a Protein Coding gene. Diseases associated with DNTTIP2 include Leukoencephalopathy With Vanishing White Matter. GO annotations related to this gene include poly(A) RNA binding.

UniProtKB/Swiss-Prot for DNTTIP2 Gene

  • Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein.

Gene Wiki entry for DNTTIP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNTTIP2 Gene

Genomics for DNTTIP2 Gene

Regulatory Elements for DNTTIP2 Gene

Enhancers for DNTTIP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G093177 1.4 ENCODE dbSUPER 21.6 +699.9 699895 4.7 CREB3L1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 NFYC CCDC18-AS1 SNORA66 SNORD21 RPL5 DNTTIP2 DR1 CCDC18 ENSG00000230439 FNBP1L TMED5
GH01G093661 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.5 +211.9 211915 13.8 PKNOX1 FOXA2 SIN3A FOS KLF13 REST MEF2D SMARCA4 GLIS1 RCOR2 CCDC18-AS1 DNTTIP2 SNORA66 LOC100129046 BCAR3 GCLM TMED5 EVI5 FNBP1L GC01M093613
GH01G093908 1.1 ENCODE 22.5 -29.4 -29382 2.1 PKNOX1 ARNT CREB3L1 ARID4B SIN3A YY1 SLC30A9 ZNF766 ZNF143 FOS DNTTIP2 ENSG00000230439 CCDC18-AS1 DR1 GCLM
GH01G093811 1.6 Ensembl ENCODE dbSUPER 13 +64.8 64805 8.0 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF143 ZNF207 DEK ENSG00000230439 SNORD21 TRR-TCT1-1 RPL5 SNORA66 CCDC18-AS1 DNTTIP2 BCAR3 MIR760 GCLM
GH01G092975 1.5 FANTOM5 ENCODE dbSUPER 12.8 +903.5 903509 5.3 HDGF ATF1 PKNOX1 MLX ZFP64 E2F7 TCF12 ZNF121 ZNF766 GATA2 RPL5 TRR-TCT1-1 DNTTIP2 ENSG00000230439 MTF2 EVI5 KIAA1107 SNORD21 FAM69A CCDC18-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNTTIP2 on UCSC Golden Path with GeneCards custom track

Promoters for DNTTIP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000010023 718 1601 CREB3L1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 SLC30A9 ZNF207

Genomic Location for DNTTIP2 Gene

Chromosome:
1
Start:
93,866,283 bp from pter
End:
93,879,918 bp from pter
Size:
13,636 bases
Orientation:
Minus strand

Genomic View for DNTTIP2 Gene

Genes around DNTTIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNTTIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNTTIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNTTIP2 Gene

Proteins for DNTTIP2 Gene

  • Protein details for DNTTIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5QJE6-TDIF2_HUMAN
    Recommended name:
    Deoxynucleotidyltransferase terminal-interacting protein 2
    Protein Accession:
    Q5QJE6
    Secondary Accessions:
    • Q12987
    • Q53H59
    • Q5TFJ4
    • Q6TLI0
    • Q76MJ8
    • Q86WX9

    Protein attributes for DNTTIP2 Gene

    Size:
    756 amino acids
    Molecular mass:
    84469 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAA50601.1; Type=Frameshift; Positions=717, 726; Evidence={ECO:0000305}; Sequence=AAH47688.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=CAI21812.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for DNTTIP2 Gene

Post-translational modifications for DNTTIP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNTTIP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNTTIP2 Gene

Domains & Families for DNTTIP2 Gene

Protein Domains for DNTTIP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNTTIP2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNTTIP2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for DNTTIP2 Gene

Function for DNTTIP2 Gene

Molecular function for DNTTIP2 Gene

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

Gene Ontology (GO) - Molecular Function for DNTTIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
genes like me logo Genes that share ontologies with DNTTIP2: view
genes like me logo Genes that share phenotypes with DNTTIP2: view

Animal Model Products

CRISPR Products

miRNA for DNTTIP2 Gene

miRTarBase miRNAs that target DNTTIP2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNTTIP2 Gene

Localization for DNTTIP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNTTIP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNTTIP2 gene
Compartment Confidence
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DNTTIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with DNTTIP2: view

Pathways & Interactions for DNTTIP2 Gene

SuperPathways for DNTTIP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNTTIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with DNTTIP2: view

No data available for Pathways by source and SIGNOR curated interactions for DNTTIP2 Gene

Drugs & Compounds for DNTTIP2 Gene

No Compound Related Data Available

Transcripts for DNTTIP2 Gene

Unigene Clusters for DNTTIP2 Gene

Deoxynucleotidyltransferase, terminal, interacting protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNTTIP2 Gene

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

Relevant External Links for DNTTIP2 Gene

GeneLoc Exon Structure for
DNTTIP2
ECgene alternative splicing isoforms for
DNTTIP2

Expression for DNTTIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNTTIP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNTTIP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.4), CD8 Tcells (9.7), Adrenal (8.9), Blymphocyte (7.5), and Fetal ovary (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DNTTIP2 Gene



Protein tissue co-expression partners for DNTTIP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNTTIP2 Gene:

DNTTIP2

SOURCE GeneReport for Unigene cluster for DNTTIP2 Gene:

Hs.85769

mRNA Expression by UniProt/SwissProt for DNTTIP2 Gene:

Q5QJE6-TDIF2_HUMAN
Tissue specificity: Widely expressed with higher levels in testis.

Evidence on tissue expression from TISSUES for DNTTIP2 Gene

  • Nervous system(4.6)
  • Intestine(4.3)
  • Liver(4.3)
  • Skin(4.3)
  • Pancreas(2.9)
genes like me logo Genes that share expression patterns with DNTTIP2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNTTIP2 Gene

Orthologs for DNTTIP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNTTIP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNTTIP2 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia DNTTIP2 34 35
  • 84.26 (n)
cow
(Bos Taurus)
Mammalia DNTTIP2 34 35
  • 82.16 (n)
mouse
(Mus musculus)
Mammalia Dnttip2 34 16 35
  • 75.85 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910753 34
  • 75.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNTTIP2 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNTTIP2 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNTTIP2 35
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNTTIP2 35
  • 37 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8071 34
zebrafish
(Danio rerio)
Actinopterygii dnttip2 35
  • 25 (a)
OneToOne
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG1142 35
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y49F6B.2 35
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FCF2 35 37
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5032 35
  • 36 (a)
OneToOne
Species where no ortholog for DNTTIP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DNTTIP2 Gene

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

Paralogs for DNTTIP2 Gene

No data available for Paralogs for DNTTIP2 Gene

Variants for DNTTIP2 Gene

Sequence variations from dbSNP and Humsavar for DNTTIP2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000148046 -- 93,871,982(+) ATATC(C/T)TCTAT intron-variant
rs1000285851 -- 93,878,790(+) TTAAC(-/AGTA)AGGTT intron-variant
rs1000287791 -- 93,871,812(+) TTCAC(A/T)TAGTG intron-variant
rs1000642110 -- 93,877,206(+) GAAGT(G/T)TGTCT reference, missense
rs1001491318 -- 93,878,346(+) GGAGC(C/T)AACCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNTTIP2 Gene

Variant ID Type Subtype PubMed ID
dgv143e59 CNV duplication 20981092
esv998151 CNV insertion 20482838
nsv998755 CNV loss 25217958

Variation tolerance for DNTTIP2 Gene

Residual Variation Intolerance Score: 66.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.08; 75.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNTTIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNTTIP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNTTIP2 Gene

Disorders for DNTTIP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNTTIP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leukoencephalopathy with vanishing white matter
  • leukoencephaly with vanishing white matter
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DNTTIP2

Genetic Association Database (GAD)
DNTTIP2
Human Genome Epidemiology (HuGE) Navigator
DNTTIP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNTTIP2
genes like me logo Genes that share disorders with DNTTIP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNTTIP2 Gene

Publications for DNTTIP2 Gene

  1. ERBP, a novel estrogen receptor binding protein enhancing the activity of estrogen receptor. (PMID: 15047147) Bu H. … Zhu Y.-J. (Biochem. Biophys. Res. Commun. 2004) 2 3 4 22 64
  2. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Terminal deoxynucleotidyltransferase forms a ternary complex with a novel chromatin remodeling protein with 82 kDa and core histone. (PMID: 12786946) Fujita K. … Koiwai O. (Genes Cells 2003) 3 4 64
  5. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3 64

Products for DNTTIP2 Gene

Sources for DNTTIP2 Gene

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