Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol TERF2IP contributors: mct/shn - updated : 20-04-2015
HGNC name telomeric repeat binding factor 2, interacting protein
HGNC id 19246
Location 16q23.1      Physical location : 75.681.634 - 75.691.338
Synonym name
  • TRF2-interacting telomeric RAP1 protein
  • dopamine receptor interacting protein 5
  • repressor activator protein 1
  • dopamine receptor-interacting protein 5
  • RAP1 homolog
  • TERF2-interacting telomeric protein 1
  • TRF2-interacting telomeric protein 1
  • hRap1
  • repressor/activator protein 1 homolog
  • telomeric repeat-binding factor 2-interacting
  • Synonym symbol(s) RAP1, DRIP5
    DNA
    TYPE functioning gene
    STRUCTURE 9.71 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D16S3115 - D16S3051 - TERF2IP - D16S3118 - D16S3083 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2196 44.13 399 - 2007 17499040
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one BRCT domain
  • one Myb DNA-binding domain
  • stretch of at least 25 AAs at the C-terminus that interact with TERF2
  • RAP1 C-terminal domain(RCT) is an evolutionarily conserved protein-protein interaction module, having diverse functional roles at telomeres
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to Terf2ip, Mus musculus
    ortholog to yeast telomeric protein, scRap1 originally identified as a regulator of telomere length
    ortholog to Terf2ip, Rattus norvegicus
    ortholog to TERF2IP, Pan trglodytes
    ortholog to terf2ip, Danio rerio
    Homologene
    FAMILY
    CATEGORY regulatory , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • PTP4A3 promotes cytosolic localization of TERF2IP
  • basic FUNCTION
  • may be playing a role in telomere length regulation
  • negatively regulating telomere length and its linker region may modulate the recruitment of negative regulators of telomere length
  • multifunctional protein that plays important roles in gene transcription and telomere length regulation, acts both as a repressor or activator on different genes
  • playing a a direct role in the protection of telomeric DNA from nonhomologous end-joining
  • inhibits non-homologous end joining at mammalian telomeres and acts as a mediator of genome stability
  • collaborating with GTF2A1, transduces activating intramolecular signals within the TBP coactivator complex that ultimately can lead to pre-initiation complex formation
  • may play a role in transcriptional control
  • important factor to prevent telomere recombination and fragility, and for transcriptional gene regulation in mammals
  • important for multipolar neurons to polarize their migration toward the cortical plate (
  • regulates the plasma membrane localization of NCad (
  • an important regulator of retinal pigment epithelial cell junctions, and is required for maintenance of barrier function (
  • preferential recruitment of shelterin complex to areas of the telomere where ss- and ds-DNA are in close proximity, such as the 3prime-telomeric overhang, telomeric DNA bubbles and the D-loop at the base of T-loops
  • TERF2IP and TERF2 have the ability to bind to nontelomeric junction sites with similar affinities, raising the question what domain is responsible for the DNA binding ability of TERF2IP
  • is essential for PTP4A3-regulated gene expression and phosphorylation of RELA
  • TLN1 and TERF2IP are critical for resorptive function, and their selective inhibition in mature osteoclasts retards pathological bone loss
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with ACD, POT1, and TINF2 to ensure proper maintenance of telomeres (high-molecular-mass telomeric complex, the telosome that contains the six core proteins TERF1, TERF2, TERF2IP, POT1, TINF2 and ACD)
  • part of Shelterin complex (TERF1, TERF2, POT1, TERF2IP, TINF2, and TPP1)
  • INTERACTION
    DNA
  • intergenic regions with many tandem telomeric repeats
  • telomeres and to extratelomeric sites through the (TTAGGG)2 consensus motif
  • RNA
    small molecule
    protein
  • RAPL (
  • TRF2, NA repair proteins Rad50, Mre11, PARP1 (poly(ADP-ribose) polymerase), PARP1, and Ku86/Ku70 (
  • structure-specific endonuclease subunit homolog (S. cerevisiae), SLX4 (
  • TERF2 with its C- terminus, TERF2 binds to TERF2IP peaks containing perfect repeats but not to those with degenerate repeats, by analogy with TERF2IP recruitment to telomeres by TERF2
  • PARP1 through TERF2
  • telomeres and to extratelomeric sites through the (TTAGGG)2 consensus motif
  • connection between SKAP1-RASSF5-TERF2IP and the PI3K pathway
  • binds directly to TERF2 through its RCT domain
  • directly binds to DNA and has a preference for ds-ss junction sites
  • PTP4A3 interacts with telomere-related protein TERF2IP
  • promotes phosphorylation of RELA and regulates expression of a subset of NFKB targets in a TERF2IP-dependent manner
  • remarkable function of AFDN, which was able to enhance cytokine expression through TERF2IP activation in keratinocytes during inflammation
  • cell & other
    REGULATION
    activated by Reelin, RELN (
    PTP4A3, that activates TERF2IP1 expression
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • knockdown of endogenous hRap1 expression by small hairpin interference RNA resulted in longer telomeres (
  • mice lacking telomeric Rap1 were viable and fertile, and loss of Rap1 induces telomere recombination in the absence of NHEJ or a DNA damage signal
  • Knockdown of Rap1 or inhibition of its activity in retinal pigment epithelial reduces transepithelial electrical resistance, electrical impedance, and choroidal endothelial cell transmigration is significantly higher (