Human Gene TERF2IP (ENST00000300086.5) from GENCODE V44
  Description: Homo sapiens TERF2 interacting protein (TERF2IP), transcript variant 2, non-coding RNA. (from RefSeq NR_144545)
RefSeq Summary (NM_018975): The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010].
Gencode Transcript: ENST00000300086.5
Gencode Gene: ENSG00000166848.7
Transcript (Including UTRs)
   Position: hg38 chr16:75,647,773-75,657,432 Size: 9,660 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr16:75,647,883-75,656,611 Size: 8,729 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:75,647,773-75,657,432)mRNA (may differ from genome)Protein (399 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TE2IP_HUMAN
DESCRIPTION: RecName: Full=Telomeric repeat-binding factor 2-interacting protein 1; Short=TERF2-interacting telomeric protein 1; Short=TRF2-interacting telomeric protein 1; AltName: Full=Dopamine receptor-interacting protein 5; AltName: Full=Repressor/activator protein 1 homolog; Short=RAP1 homolog; Short=hRap1;
FUNCTION: Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repressing homology-directed repair (HDR), which can affect telomere length. Does not bind DNA directly: recruited to telomeric double-stranded 5'-TTAGGG-3' repeats via its interaction with TERF2. Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric 5'- TTAGGG-3' sites via its association with TERF2 or other factors, and regulates gene expression. When cytoplasmic, associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of the NF-kappa-B signaling by promoting IKK-mediated phosphorylation of RELA/p65, leading to activate expression of NF-kappa-B target genes.
SUBUNIT: Associates with the I-kappa-B-kinase (IKK) core complex, composed of CHUK, IKBKB and IKBKG (By similarity). Homodimer. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Interacts with TERF2; the interaction is direct. Does not interact with TERF1. Interacts with SLX4/BTBD12.
INTERACTION: Q8IY92:SLX4; NbExp=4; IntAct=EBI-750109, EBI-2370740; Q15554:TERF2; NbExp=5; IntAct=EBI-750109, EBI-706637; Q9BSI4-3:TINF2; NbExp=3; IntAct=EBI-750109, EBI-717418;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm (By similarity). Chromosome. Chromosome, telomere. Note=Associates with chromosomes, both at telomeres and in extratelomeric sites. Also exists as a cytoplasmic form, where it associates with the IKK complex (By similarity).
TISSUE SPECIFICITY: Ubiquitous. Highly expressed.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
MISCELLANEOUS: Shares a bidirectional promoter with KARS (PubMed:14659874).
SIMILARITY: Belongs to the RAP1 family.
SIMILARITY: Contains 1 BRCT domain.
SIMILARITY: Contains 1 Myb-like domain.
CAUTION: Was reported to participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair in the absence of TERF2 (PubMed:19763083). However, this probably does not corresponds to its primary function and experiments in mouse showed that it is dispensible for such process and is required for repressiion of homology-directed repair (HDR).
SEQUENCE CAUTION: Sequence=AAL55783.1; Type=Frameshift; Positions=151; Sequence=BAA91317.1; Type=Erroneous termination; Positions=299; Note=Translated as Glu; Sequence=BAG60996.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TERF2IP
Diseases sorted by gene-association score: malignant melanoma, somatic* (14)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 117.55 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 2005.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.40110-0.440 Picture PostScript Text
3' UTR -200.70821-0.244 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009057 - Homeodomain-like
IPR015010 - Rap1_Myb_dom

Pfam Domains:
PF08914 - Rap1 Myb domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FEX - NMR 3K6G - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NYB0
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0019902 phosphatase binding
GO:0042162 telomeric DNA binding
GO:0098505 G-rich strand telomeric DNA binding

Biological Process:
GO:0000723 telomere maintenance
GO:0001933 negative regulation of protein phosphorylation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007004 telomere maintenance via telomerase
GO:0010569 regulation of double-strand break repair via homologous recombination
GO:0010833 telomere maintenance via telomere lengthening
GO:0016233 telomere capping
GO:0031848 protection from non-homologous end joining at telomere
GO:0032204 regulation of telomere maintenance
GO:0032205 negative regulation of telomere maintenance
GO:0033138 positive regulation of peptidyl-serine phosphorylation
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0048239 negative regulation of DNA recombination at telomere
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0070198 protein localization to chromosome, telomeric region
GO:1901224 positive regulation of NIK/NF-kappaB signaling
GO:1901985 positive regulation of protein acetylation

Cellular Component:
GO:0000228 nuclear chromosome
GO:0000781 chromosome, telomeric region
GO:0000783 nuclear telomere cap complex
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016604 nuclear body
GO:0070187 telosome
GO:0030870 Mre11 complex


-  Descriptions from all associated GenBank mRNAs
  AK307901 - Homo sapiens cDNA, FLJ97849.
LF384465 - JP 2014500723-A/191968: Polycomb-Associated Non-Coding RNAs.
MA620042 - JP 2018138019-A/191968: Polycomb-Associated Non-Coding RNAs.
AK000669 - Homo sapiens cDNA FLJ20662 fis, clone KAIA804.
BC022428 - Homo sapiens telomeric repeat binding factor 2, interacting protein, mRNA (cDNA clone MGC:24671 IMAGE:4253277), complete cds.
BC004465 - Homo sapiens telomeric repeat binding factor 2, interacting protein, mRNA (cDNA clone MGC:4327 IMAGE:2820760), complete cds.
BC005841 - Homo sapiens telomeric repeat binding factor 2, interacting protein, mRNA (cDNA clone MGC:2699 IMAGE:2820760), complete cds.
BC016739 - Homo sapiens telomeric repeat binding factor 2, interacting protein, mRNA (cDNA clone IMAGE:4107843), containing frame-shift errors.
BC078171 - Homo sapiens telomeric repeat binding factor 2, interacting protein, mRNA (cDNA clone MGC:87941 IMAGE:5760351), complete cds.
AF289599 - Homo sapiens clone pp8000 unknown mRNA.
AF250393 - Homo sapiens dopamine receptor interacting protein 5 (DRIP5) mRNA, complete cds.
JD438645 - Sequence 419669 from Patent EP1572962.
CU678732 - Synthetic construct Homo sapiens gateway clone IMAGE:100017187 5' read TERF2IP mRNA.
AB464292 - Synthetic construct DNA, clone: pF1KB8124, Homo sapiens TERF2IP gene for telomeric repeat binding factor 2, interacting protein, without stop codon, in Flexi system.
HQ448265 - Synthetic construct Homo sapiens clone IMAGE:100071667; CCSB003820_01 telomeric repeat binding factor 2, interacting protein (TERF2IP) gene, encodes complete protein.
KJ898976 - Synthetic construct Homo sapiens clone ccsbBroadEn_08370 TERF2IP gene, encodes complete protein.
AF262988 - Homo sapiens TRF2-interacting telomeric RAP1 protein (RAP1) mRNA, complete cds.
AK298880 - Homo sapiens cDNA FLJ60801 complete cds, highly similar to Telomeric repeat-binding factor 2-interacting protein 1.
LF374781 - JP 2014500723-A/182284: Polycomb-Associated Non-Coding RNAs.
MA610358 - JP 2018138019-A/182284: Polycomb-Associated Non-Coding RNAs.
LF374782 - JP 2014500723-A/182285: Polycomb-Associated Non-Coding RNAs.
MA610359 - JP 2018138019-A/182285: Polycomb-Associated Non-Coding RNAs.
LF374785 - JP 2014500723-A/182288: Polycomb-Associated Non-Coding RNAs.
MA610362 - JP 2018138019-A/182288: Polycomb-Associated Non-Coding RNAs.
JD302697 - Sequence 283721 from Patent EP1572962.
JD309051 - Sequence 290075 from Patent EP1572962.
JD530040 - Sequence 511064 from Patent EP1572962.
JD066978 - Sequence 48002 from Patent EP1572962.
JD295482 - Sequence 276506 from Patent EP1572962.
JD093397 - Sequence 74421 from Patent EP1572962.
LF374786 - JP 2014500723-A/182289: Polycomb-Associated Non-Coding RNAs.
MA610363 - JP 2018138019-A/182289: Polycomb-Associated Non-Coding RNAs.
JD550482 - Sequence 531506 from Patent EP1572962.
JD046255 - Sequence 27279 from Patent EP1572962.
JD136551 - Sequence 117575 from Patent EP1572962.
JD394322 - Sequence 375346 from Patent EP1572962.
JD392948 - Sequence 373972 from Patent EP1572962.
JD260985 - Sequence 242009 from Patent EP1572962.
JD516109 - Sequence 497133 from Patent EP1572962.
JD491421 - Sequence 472445 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NYB0 (Reactome details) participates in the following event(s):

R-HSA-176700 Incorporation Of Extended And Processed Telomere End Into Higher Order T-Loop And Associated Protein Structure
R-HSA-181450 Incorporation Of Extended And Processed Telomere End Into Associated Protein Structure
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence
R-HSA-1221632 Meiotic synapsis
R-HSA-157579 Telomere Maintenance
R-HSA-2559583 Cellular Senescence
R-HSA-1500620 Meiosis
R-HSA-73886 Chromosome Maintenance
R-HSA-2262752 Cellular responses to stress
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: B4DQN4, DRIP5, ENST00000300086.1, ENST00000300086.2, ENST00000300086.3, ENST00000300086.4, NR_144545, PP8000, Q4W4Y2, Q8WYZ3, Q9NWR2, Q9NYB0, RAP1, TE2IP_HUMAN, uc002fet.1, uc002fet.2, uc002fet.3, uc002fet.4
UCSC ID: ENST00000300086.5
RefSeq Accession: NM_018975
Protein: Q9NYB0 (aka TE2IP_HUMAN or TE2I_HUMAN)
CCDS: CCDS32491.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.