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] See more...

Aliases for TERF2IP Gene

Aliases for TERF2IP Gene

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

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 Melanoma, Cutaneous Malignant 1 and Melanomatosis. Among its related pathways are DNA Damage/Telomere Stress Induced Senescence and DNA Damage. Gene Ontology (GO) annotations related to this gene include telomeric DNA binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for TERF2IP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TERF2IP Gene

Genomics for TERF2IP Gene

GeneHancer (GH) Regulatory Elements for TERF2IP Gene

Promoters and enhancers for TERF2IP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J075646 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.5 1497 6.4 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 MYC POLR2G SP1 GTF2E2 KARS1 TERF2IP ADAT1 BCAR1 TMEM231 CHST5 ENSG00000287194 NONHSAG020017.2
GH16J075549 Enhancer 0.9 ENCODE dbSUPER 13.3 -97.2 -97155 1.4 CTCF USF1 ZIC2 RELA RAD21 TRIM22 SALL2 ZBTB17 SMC3 NBN ADAT1 TMEM231 TERF2IP ZFP1 piR-35672-023 ENSG00000259992
GH16J074842 Enhancer 0.4 Ensembl 10.9 -805.2 -805203 0.6 ZNF335 THRB L3MBTL2 ZNF121 THRA ENSG00000261458 LOC105371343 lnc-ZNRF1-3 TERF2IP
GH16J075260 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.9 -383.0 -382971 7.9 HNRNPK NRF1 TCF12 POLR2G NCOR1 PHF8 JUND FOS ZFX ZNF10 BCAR1 ENSG00000259972 CTRB2 ENSG00000261783 TMEM170A TERF2IP LOC105371344
GH16J075750 Enhancer 0.4 Ensembl ENCODE 4.2 +103.0 103023 0.3 POLR2A ADAT1 TERF2IP NONHSAG020022.2 piR-58852-016
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TERF2IP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TERF2IP gene promoter:
  • E47
  • Egr-4
  • HOXA9
  • HOXA9B
  • Lmo2
  • Meis-1
  • Meis-1b
  • Pax-5
  • Tal-1beta

Genomic Locations for TERF2IP Gene

Genomic Locations for TERF2IP Gene
chr16:75,647,704-75,761,872
(GRCh38/hg38)
Size:
114,169 bases
Orientation:
Plus strand
chr16:75,681,635-75,795,770
(GRCh37/hg19)
Size:
114,136 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 KARS1.
    SequenceCaution:
    • Sequence=AAL55783.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA91317.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAG60996.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TERF2IP Gene

neXtProt entry for TERF2IP Gene

Post-translational modifications for TERF2IP Gene

  • Ubiquitination at Lys194 and Lys240
  • Modification sites at PhosphoSitePlus

Other Protein References for TERF2IP Gene

No data available for DME Specific Peptides for TERF2IP Gene

Domains & Families for TERF2IP Gene

Gene Families for TERF2IP Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TERF2IP Gene

Suggested Antigen Peptide Sequences for TERF2IP Gene

GenScript: Design optimal peptide antigens:
  • Repressor/activator protein 1 homolog (TE2IP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NYB0

UniProtKB/Swiss-Prot:

TE2IP_HUMAN :
  • Belongs to the RAP1 family.
Family:
  • Belongs to the RAP1 family.
genes like me logo Genes that share domains with TERF2IP: view

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.

Phenotypes From GWAS Catalog for TERF2IP Gene

Gene Ontology (GO) - Molecular Function for TERF2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA,IBA 21873635
GO:0005515 protein binding IPI 14690602
GO:0019902 phosphatase binding IPI 23178297
GO:0042162 NOT telomeric DNA binding IDA,TAS 10850490
GO:0098505 G-rich strand telomeric DNA binding IDA 17694070
genes like me logo Genes that share ontologies with TERF2IP: view
genes like me logo Genes that share phenotypes with TERF2IP: view

Human Phenotype Ontology for TERF2IP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TERF2IP Gene

MGI Knock Outs for TERF2IP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TERF2IP

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 TERF2IP gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TERF2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome TAS 10850490
GO:0000781 chromosome, telomeric region ISS,IDA --
GO:0000783 nuclear telomere cap complex IDA 15181449
GO:0000784 nuclear chromosome, telomeric region IEA,IDA 14565979
GO:0005634 nucleus ISS --
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

1 Qiagen pathway for TERF2IP Gene
  • Telomere Extension by Telomerase
2 Cell Signaling Technology pathways for TERF2IP Gene

Gene Ontology (GO) - Biological Process for TERF2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IEA,IDA 14565979
GO:0001933 negative regulation of protein phosphorylation IMP 23178297
GO:0006355 regulation of transcription, DNA-templated ISS,IEA --
GO:0007004 telomere maintenance via telomerase TAS 10850490
GO:0010569 regulation of double-strand break repair via homologous recombination ISS,IEA --
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

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TERF2IP

Clone Products

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

Expression for TERF2IP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TERF2IP Gene



Protein tissue co-expression partners for TERF2IP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TERF2IP

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.

Evidence on tissue expression from TISSUES for TERF2IP Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Intestine(4.3)
  • Liver(4.3)
  • Skin(4.3)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with TERF2IP: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TERF2IP 31 30
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TERF2IP 31 30
  • 90.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TERF2IP 31 30
  • 90.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Terf2ip 17 31 30
  • 86.17 (n)
rat
(Rattus norvegicus)
Mammalia Terf2ip 30
  • 86.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TERF2IP 31
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TERF2IP 31
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves TERF2IP 31 30
  • 58.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TERF2IP 31
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia terf2ip 30
  • 54.25 (n)
zebrafish
(Danio rerio)
Actinopterygii terf2ip 31
  • 21 (a)
OneToOne
Species where no ortholog for TERF2IP was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TERF2IP: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TERF2IP Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs4888444 - p.Lys324Glu

Additional dbSNP identifiers (rs#s) for TERF2IP Gene

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

Variant ID Type Subtype PubMed ID
nsv1065543 CNV loss 25217958
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)

Additional Variant Information for TERF2IP Gene

Human Gene Mutation Database (HGMD)
TERF2IP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TERF2IP

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

Disorders for TERF2IP Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
melanoma, cutaneous malignant 1
  • melanoma, cutaneous malignant, susceptibility to, 1
melanomatosis
coats disease
  • retinal telangiectasis
melanoma, uveal
  • uveal melanoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TERF2IP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 54
  2. Polymorphisms in telomere maintenance genes and risk of lung cancer. (PMID: 19773453) Choi JE … Park JY (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 23 41 54
  3. Shelterin: the protein complex that shapes and safeguards human telomeres. (PMID: 16166375) de Lange T (Genes & development 2005) 3 4 23 54
  4. Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PMID: 15383534) Liu D … Songyang Z (The Journal of biological chemistry 2004) 3 4 23 54
  5. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. (PMID: 15316005) Ye JZ … de Lange T (The Journal of biological chemistry 2004) 3 4 23 54

Products for TERF2IP Gene

Sources for TERF2IP Gene