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Aliases for TERF2IP Gene

Aliases for TERF2IP Gene

  • TERF2 Interacting Protein 2 3
  • Telomeric Repeat Binding Factor 2, Interacting Protein 2 3 5
  • Dopamine Receptor-Interacting Protein 5 3 4
  • Repressor/Activator Protein 1 Homolog 3 4
  • TERF2-Interacting Telomeric Protein 1 3 4
  • TRF2-Interacting Telomeric Protein 1 3 4
  • RAP1 Homolog 3 4
  • DRIP5 3 4
  • HRap1 3 4
  • RAP1 3 4
  • TRF2-Interacting Telomeric RAP1 Protein 3
  • Dopamine Receptor Interacting Protein 5 3

External Ids for TERF2IP Gene

Previous GeneCards Identifiers for TERF2IP Gene

  • GC16P066611
  • GC16P076642
  • GC16P075420
  • GC16P075461
  • GC16P074239
  • GC16P075681
  • GC16P061435

Summaries for TERF2IP Gene

Entrez Gene Summary for TERF2IP Gene

  • 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]

GeneCards Summary for TERF2IP Gene

TERF2IP (TERF2 Interacting Protein) is a Protein Coding gene. Diseases associated with TERF2IP include Malignant Melanoma, Somatic. Among its related pathways are Packaging Of Telomere Ends and Regulation of Telomerase. GO annotations related to this gene include telomeric DNA binding.

UniProtKB/Swiss-Prot for TERF2IP Gene

  • 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.

Gene Wiki entry for TERF2IP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TERF2IP Gene

Genomics for TERF2IP Gene

Regulatory Elements for TERF2IP Gene

Enhancers for TERF2IP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TERF2IP on UCSC Golden Path with GeneCards custom track

Promoters for TERF2IP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TERF2IP on UCSC Golden Path with GeneCards custom track

Genomic Location for TERF2IP Gene

Chromosome:
16
Start:
75,647,704 bp from pter
End:
75,761,872 bp from pter
Size:
114,169 bases
Orientation:
Plus strand

Genomic View for TERF2IP Gene

Genes around TERF2IP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TERF2IP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TERF2IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TERF2IP Gene

Proteins for TERF2IP Gene

  • Protein details for TERF2IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYB0-TE2IP_HUMAN
    Recommended name:
    Telomeric repeat-binding factor 2-interacting protein 1
    Protein Accession:
    Q9NYB0
    Secondary Accessions:
    • B4DQN4
    • Q4W4Y2
    • Q8WYZ3
    • Q9NWR2

    Protein attributes for TERF2IP Gene

    Size:
    399 amino acids
    Molecular mass:
    44260 Da
    Quaternary structure:
    • 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.
    Miscellaneous:
    • Shares a bidirectional promoter with KARS.
    SequenceCaution:
    • Sequence=AAL55783.1; Type=Frameshift; Positions=151; Evidence={ECO:0000305}; Sequence=BAA91317.1; Type=Erroneous termination; Positions=299; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=BAG60996.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TERF2IP Gene

neXtProt entry for TERF2IP Gene

Proteomics data for TERF2IP Gene at MOPED

Post-translational modifications for TERF2IP Gene

  • Ubiquitination at Lys 240
  • Modification sites at PhosphoSitePlus

Other Protein References for TERF2IP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TERF2IP (TERF2IP)

No data available for DME Specific Peptides for TERF2IP Gene

Domains & Families for TERF2IP Gene

Protein Domains for TERF2IP Gene

Suggested Antigen Peptide Sequences for TERF2IP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NYB0

UniProtKB/Swiss-Prot:

TE2IP_HUMAN :
  • Contains 1 BRCT domain.
  • Belongs to the RAP1 family.
Domain:
  • Contains 1 BRCT domain.
  • Contains 1 Myb-like domain.
Family:
  • Belongs to the RAP1 family.
genes like me logo Genes that share domains with TERF2IP: view

No data available for Gene Families for TERF2IP Gene

Function for TERF2IP Gene

Molecular function for TERF2IP Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with TERF2IP: view

Animal Models for TERF2IP Gene

MGI Knock Outs for TERF2IP:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TERF2IP Gene

Localization for TERF2IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TERF2IP Gene

Nucleus. Cytoplasm. 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. {ECO:0000250 UniProtKB:Q91VL8}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TERF2IP Gene COMPARTMENTS Subcellular localization image for TERF2IP gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for TERF2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030870 colocalizes_with Mre11 complex IDA 15100233
genes like me logo Genes that share ontologies with TERF2IP: view

Pathways & Interactions for TERF2IP Gene

genes like me logo Genes that share pathways with TERF2IP: view

Pathways by source for TERF2IP Gene

Gene Ontology (GO) - Biological Process for TERF2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007004 telomere maintenance via telomerase TAS 10850490
GO:0010833 telomere maintenance via telomere lengthening IEA,ISS --
GO:0048239 negative regulation of DNA recombination at telomere IEA,ISS --
GO:0070198 protein localization to chromosome, telomeric region IMP 17499040
GO:1901985 positive regulation of protein acetylation IMP 23867755
genes like me logo Genes that share ontologies with TERF2IP: view

No data available for SIGNOR curated interactions for TERF2IP Gene

Drugs & Compounds for TERF2IP Gene

(1) Additional Compounds for TERF2IP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TERF2IP: view

Transcripts for TERF2IP Gene

mRNA/cDNA for TERF2IP Gene

Unigene Clusters for TERF2IP Gene

Telomeric repeat binding factor 2, interacting protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TERF2IP Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3
SP1: -
SP2:

Relevant External Links for TERF2IP Gene

GeneLoc Exon Structure for
TERF2IP
ECgene alternative splicing isoforms for
TERF2IP

Expression for TERF2IP Gene

mRNA expression in normal human tissues for TERF2IP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TERF2IP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.0), Lymph node (7.1), CD8 Tcells (6.9), and Blymphocyte (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TERF2IP Gene



SOURCE GeneReport for Unigene cluster for TERF2IP Gene Hs.301419

mRNA Expression by UniProt/SwissProt for TERF2IP Gene

Q9NYB0-TE2IP_HUMAN
Tissue specificity: Ubiquitous. Highly expressed.
genes like me logo Genes that share expression patterns with TERF2IP: view

Protein tissue co-expression partners for TERF2IP Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for TERF2IP Gene

Orthologs for TERF2IP Gene

This gene was present in the common ancestor of chordates.

Orthologs for TERF2IP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TERF2IP 35
  • 90.34 (n)
  • 90.93 (a)
TERF2IP 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TERF2IP 35
  • 90.66 (n)
  • 91.92 (a)
TERF2IP 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Terf2ip 35
  • 86.17 (n)
  • 86.51 (a)
Terf2ip 16
Terf2ip 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TERF2IP 35
  • 99.58 (n)
  • 99.75 (a)
TERF2IP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Terf2ip 35
  • 86.17 (n)
  • 86.26 (a)
oppossum
(Monodelphis domestica)
Mammalia TERF2IP 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TERF2IP 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves TERF2IP 35
  • 58.02 (n)
  • 47.81 (a)
TERF2IP 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TERF2IP 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia terf2ip 35
  • 54.25 (n)
  • 52.16 (a)
zebrafish
(Danio rerio)
Actinopterygii terf2ip 36
  • 21 (a)
OneToOne
Species with no ortholog for TERF2IP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TERF2IP Gene

ENSEMBL:
Gene Tree for TERF2IP (if available)
TreeFam:
Gene Tree for TERF2IP (if available)

Paralogs for TERF2IP Gene

Pseudogenes.org Pseudogenes for TERF2IP Gene

genes like me logo Genes that share paralogs with TERF2IP: view

No data available for Paralogs for TERF2IP Gene

Variants for TERF2IP Gene

Sequence variations from dbSNP and Humsavar for TERF2IP Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs4888444 - 75,656,381(+) TGGAG(A/G)AGTTT nc-transcript-variant, reference, missense
rs10308 -- 75,657,211(-) ACTGA(G/T)AAGGG utr-variant-3-prime
rs16941865 -- 75,654,071(+) GAAGC(A/G)AGCAT intron-variant
rs61675014 -- 75,653,193(+) ATCTT(C/T)TGTTT intron-variant
rs4888443 -- 75,651,613(+) gaacc(A/G)gggag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TERF2IP Gene

Variant ID Type Subtype PubMed ID
nsv1881 CNV Insertion 18451855

Variation tolerance for TERF2IP Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TERF2IP Gene

Human Gene Mutation Database (HGMD)
TERF2IP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TERF2IP Gene

Disorders for TERF2IP Gene

MalaCards: The human disease database

(1) MalaCards diseases for TERF2IP Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
malignant melanoma, somatic
  • familial melanoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TERF2IP

Genetic Association Database (GAD)
TERF2IP
Human Genome Epidemiology (HuGE) Navigator
TERF2IP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TERF2IP
genes like me logo Genes that share disorders with TERF2IP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TERF2IP Gene

Publications for TERF2IP Gene

  1. Identification of human RAP1: implications for telomere evolution. (PMID: 10850490) Li B. … de Lange T. (Cell 2000) 2 3 4 23 67
  2. POT1 association with TRF2 regulates telomere length. (PMID: 19651898) Kendellen M.F. … Counter C.M. (Mol. Cell. Biol. 2009) 3 23
  3. Polymorphisms in telomere maintenance genes and risk of lung cancer. (PMID: 19773453) Choi J.E. … Park J.Y. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 23
  4. A RAP1/TRF2 complex inhibits nonhomologous end-joining at human telomeric DNA ends. (PMID: 17499040) Bae N.S. … Baumann P. (Mol. Cell 2007) 3 23
  5. A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly. (PMID: 16880378) O'Connor M.S. … Songyang Z. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 23

Products for TERF2IP Gene

Sources for TERF2IP Gene

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