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... See more...

Aliases for DNTTIP2 Gene

Aliases for DNTTIP2 Gene

  • Deoxynucleotidyltransferase Terminal Interacting Protein 2 2 3 5
  • TdIF2 2 3 4
  • ERBP 2 3 4
  • Deoxynucleotidyltransferase Terminal-Interacting Protein 2 3 4
  • Acidic 82 KDa Protein MRNA 2 3
  • LPTS-Interacting Protein 2 3 4
  • TdT-Interacting Factor 2 3 4
  • HSU15552 2 3
  • LPTS-RP2 3 4
  • Deoxynucleotidyltransferase, Terminal, Interacting Protein 2 2
  • Terminal Deoxynucleotidyltransferase-Interacting Factor 2 4
  • Estrogen Receptor Binding Protein 3
  • Estrogen Receptor-Binding Protein 4
  • DNTTIP2 5
  • TDIF2 4
  • 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 Corneal Dystrophy, Fleck.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for DNTTIP2 Gene

Genomics for DNTTIP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNTTIP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNTTIP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNTTIP2

Top Transcription factor binding sites by QIAGEN in the DNTTIP2 gene promoter:
  • AML1a
  • Elk-1
  • En-1
  • HEN1
  • Ik-3
  • Nkx2-2
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for DNTTIP2 Gene

Latest Assembly
chr1:93,866,284-93,879,918
(GRCh38/hg38)
Size:
13,635 bases
Orientation:
Minus strand

Previous Assembly
chr1:94,331,840-94,344,762
(GRCh37/hg19 by Entrez Gene)
Size:
12,923 bases
Orientation:
Minus strand

chr1:94,333,373-94,345,474
(GRCh37/hg19 by Ensembl)
Size:
12,102 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; Evidence={ECO:0000305}; Sequence=AAH47688.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; 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

No data available for DME Specific Peptides for DNTTIP2 Gene

Domains & Families for DNTTIP2 Gene

Gene Families for DNTTIP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DNTTIP2 Gene

InterPro:

Suggested Antigen Peptide Sequences for DNTTIP2 Gene

GenScript: Design optimal peptide antigens:
  • Terminal deoxynucleotidyltransferase-interacting factor 2 (TDIF2_HUMAN)
genes like me logo Genes that share domains with DNTTIP2: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for DNTTIP2 Gene

Gene Ontology (GO) - Molecular Function for DNTTIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with DNTTIP2: view
genes like me logo Genes that share phenotypes with DNTTIP2: view

miRNA for DNTTIP2 Gene

miRTarBase miRNAs that target DNTTIP2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNTTIP2

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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitotic chromosome (4)
  • Nucleoli (4)
  • Nucleoli rim (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNTTIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IDA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with DNTTIP2: view

Pathways & Interactions for DNTTIP2 Gene

PathCards logo

SuperPathways for DNTTIP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNTTIP2 Gene

None

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

mRNA/cDNA for DNTTIP2 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNTTIP2

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

Expression for DNTTIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for DNTTIP2 Gene



Protein tissue co-expression partners for DNTTIP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Skin(4.4)
  • Intestine(4.4)
  • Liver(4.4)
  • Pancreas(2.9)
  • Kidney(2.3)
  • Blood(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with DNTTIP2: view

Primer products for research

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 29 30
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DNTTIP2 29 30
  • 84.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DNTTIP2 29 30
  • 82.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dnttip2 29 16 30
  • 75.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100910753 29
  • 75.14 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DNTTIP2 30
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DNTTIP2 30
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DNTTIP2 30
  • 40 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DNTTIP2 30
  • 37 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8071 29
Zebrafish
(Danio rerio)
Actinopterygii dnttip2 30
  • 25 (a)
OneToOne
-- 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG1142 30
  • 28 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y49F6B.2 30
  • 30 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FCF2 30 32
  • 32 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5032 30
  • 36 (a)
OneToOne
Species where no ortholog for DNTTIP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DNTTIP2: view image
Alliance of Genome Resources:
Additional Orthologs for DNTTIP2

Paralogs for DNTTIP2 Gene

No data available for Paralogs for DNTTIP2 Gene

Variants for DNTTIP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNTTIP2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12748154 -- p.Tyr676Phe
rs3179879 -- p.Thr341Ala
rs35650636 -- p.Ala430Val
rs3747965 -- p.Glu309Asp
rs41292661 -- p.Gly477Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNTTIP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DNTTIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNTTIP2
Leiden Open Variation Database (LOVD)
DNTTIP2

SNP Genotyping and Copy Number Assays for research

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: COP

Disorder Aliases PubMed IDs
corneal dystrophy, fleck
  • cfd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNTTIP2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 YJ (Biochemical and biophysical research communications 2004) 2 3 4 22
  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 LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 40
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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 to cells : devoted to molecular & cellular mechanisms 2003) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for DNTTIP2 Gene

Sources for DNTTIP2 Gene