Aliases for TERF2IP Gene
Aliases for TERF2IP Gene
External Ids for TERF2IP Gene
- HGNC: 19246
- Entrez Gene: 54386
- Ensembl: ENSG00000166848
- OMIM: 605061
- UniProtKB: Q9NYB0
Previous GeneCards Identifiers for TERF2IP Gene
- GC16P066611
- GC16P076642
- GC16P075420
- GC16P075461
- GC16P074239
- GC16P075681
- GC16P061435
Summaries 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. Among its related pathways are Meiosis and Regulation of Telomerase. Gene Ontology (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.
Additional gene information for TERF2IP Gene
- Monarch Initiative
- Search for TERF2IP at DataMed
- Search for TERF2IP at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH16I075646 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE dbSUPER | 550.8 | +1.5 | 1504 | 6 | HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 | KARS TERF2IP ADAT1 BCAR1 TMEM231 CHST5 GC16P075674 | |
| GH16I075549 | Enhancer | 1.1 | Ensembl ENCODE dbSUPER | 13.3 | -97.2 | -97155 | 1.4 | ELF3 CTCF USF1 SALL2 EBF1 ZIC2 IRF4 RAD21 RELA ZFHX2 | ADAT1 TMEM231 TERF2IP ZFP1 ENSG00000260092 ENSG00000259992 | |
| GH16I075260 | Promoter/Enhancer | 2.7 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 1.9 | -383.0 | -382971 | 7.9 | HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 | BCAR1 ENSG00000259972 CTRB2 ENSG00000261783 TMEM170A TERF2IP LOC105371344 | |
| GH16I075750 | Enhancer | 0.3 | ENCODE | 4.2 | +103.1 | 103074 | 0.2 | POLR2A | ADAT1 TERF2IP GC16P075766 CPHXL | |
| GH16I075644 | Enhancer | 0.5 | ENCODE dbSUPER | 0.8 | -2.9 | -2926 | 0.2 | CTCF | KARS TERF2IP PIR52633 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TERF2IP on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for TERF2IP Gene
Genes around TERF2IP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q23.1 by Ensembl
- 16q23.1 by Entrez Gene
- 16q23.1 by HGNC
TERF2IP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for TERF2IP Gene
Post-translational modifications for TERF2IP Gene
Other Protein References for TERF2IP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for TERF2IP
-
Abcam antibodies for TERF2IP
-
Cloud-Clone Corp. Antibodies for TERF2IP
- Invitrogen Antibodies for TERF2IP
- antibodies-online: Search results for 137 available RAP1 Antibodies ranked by validation data
- Compare Top RAP1 Antibodies
-
Recommended
- GeneTex TERF2IP antibody for TERF2IP
-
Santa Cruz Biotechnology (SCBT) Antibodies for TERF2IP
Protein Products
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OriGene Purified Proteins for TERF2IP
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-
Cloud-Clone Corp. Proteins for TERF2IP
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-
Abcam proteins for TERF2IP
Assay Products
-
Cloud-Clone Corp. Assay Kits for TERF2IP
-
Abcam assays for TERF2IP
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TERF2IP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NYB0- Family:
-
- Belongs to the RAP1 family.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| 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 |
Phenotypes for TERF2IP Gene
- MGI mutant phenotypes for TERF2IP:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for TERF2IP:
Animal Models for TERF2IP Gene
- MGI Knock Outs for TERF2IP:
-
- Terf2ip tm1.2Tdl
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TERF2IP
-
-
ViGene Biosciences lentiviral particle packaged cDNA for TERF2IP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TERF2IP gene
- Search ViGene Biosciences for TERF2IP
CRISPR Products
-
OriGene CRISPR knockouts for TERF2IP
- genomics-online: gRNA clones - Search results for 96 available RAP1 gene related products
- Overview of 96 available RAP1 gene related products
- Applied Biological Materials CRISPR for TERF2IP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TERF2IP
- GenScript: Design CRISPR guide RNA sequences for TERF2IP
miRNA for TERF2IP Gene
- miRTarBase miRNAs that target TERF2IP
-
- hsa-mir-590-3p (MIRT016173)
- hsa-mir-27a-3p (MIRT028687)
- hsa-mir-16-5p (MIRT031567)
- hsa-mir-100-5p (MIRT048531)
- hsa-let-7b-5p (MIRT052183)
- hsa-mir-520g-5p (MIRT285116)
- hsa-mir-548a-3p (MIRT285119)
- hsa-mir-651-3p (MIRT285120)
- hsa-mir-548e-3p (MIRT285121)
- hsa-mir-548f-3p (MIRT285122)
- hsa-mir-4477b (MIRT285125)
- hsa-mir-548ar-3p (MIRT285127)
- hsa-mir-548az-3p (MIRT285128)
- hsa-mir-7856-5p (MIRT285132)
- hsa-mir-186-5p (MIRT437949)
- hsa-mir-1323 (MIRT490142)
- hsa-mir-6818-5p (MIRT490143)
- hsa-mir-147a (MIRT490144)
- hsa-mir-526a (MIRT490145)
- hsa-mir-523-5p (MIRT490146)
- hsa-mir-522-5p (MIRT490147)
- hsa-mir-520c-5p (MIRT490148)
- hsa-mir-519c-5p (MIRT490149)
- hsa-mir-519b-5p (MIRT490150)
- hsa-mir-519a-5p (MIRT490151)
- hsa-mir-518f-5p (MIRT490152)
- hsa-mir-518e-5p (MIRT490153)
- hsa-mir-518d-5p (MIRT490154)
- hsa-mir-933 (MIRT490155)
- hsa-mir-1251-5p (MIRT490156)
- hsa-mir-517-5p (MIRT490157)
- hsa-mir-4639-3p (MIRT490158)
miRNA Products
- Search ViGene Biosciences for TERF2IP
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TERF2IP
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- Overview of 96 available RAP1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TERF2IP gene
Clone Products
- Sino Biological Human cDNA Clone for TERF2IP
- VectorBuilder custom plasmid, inducible vectors for TERF2IP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TERF2IP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TERF2IP
- Applied Biological Materials Clones for TERF2IP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TERF2IP
-
ViGene Biosciences adenoviral particle packaged cDNA for TERF2IP gene
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ViGene Biosciences lentiviral particle packaged cDNA for TERF2IP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TERF2IP gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
- Nuclear bodies (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | TAS | 10850490 |
| GO:0000781 | chromosome, telomeric region | IDA,ISS | -- |
| GO:0000783 | nuclear telomere cap complex | IDA | 15181449 |
| GO:0000784 | nuclear chromosome, telomeric region | IDA,IEA | 14565979 |
| GO:0005634 | nucleus | ISS | -- |
Pathways & Interactions for TERF2IP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cellular Senescence (REACTOME) | ||
| 2 | Chromosome Maintenance | ||
| 3 | DNA Damage/Telomere Stress Induced Senescence | ||
| 4 | Meiosis |
.73
|
.66
|
| 5 | Chromatin Regulation / Acetylation | ||
Pathways by source for TERF2IP Gene
1 BioSystems pathway for TERF2IP Gene
9 Reactome pathways for TERF2IP Gene
1 Qiagen pathway for TERF2IP Gene
2 Cell Signaling Technology pathways for TERF2IP Gene
Interacting Proteins for TERF2IP Gene
Selected Interacting proteins:
Q9NYB0-TE2IP_HUMAN
ENSP00000300086
for TERF2IP Gene via
IID
UniProtKB
STRING
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000723 | telomere maintenance | IDA | 14565979 |
| GO:0001933 | negative regulation of protein phosphorylation | IMP | 23178297 |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IMP,ISS | -- |
| GO:0007004 | telomere maintenance via telomerase | TAS | 10850490 |
No data available for SIGNOR curated interactions for TERF2IP Gene
Transcripts for TERF2IP Gene
mRNA/cDNA for TERF2IP Gene
- (1) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (467) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TERF2IP Gene
CRISPR Products
-
OriGene CRISPR knockouts for TERF2IP
- genomics-online: gRNA clones - Search results for 96 available RAP1 gene related products
- Overview of 96 available RAP1 gene related products
- Applied Biological Materials CRISPR for TERF2IP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TERF2IP
- GenScript: Design CRISPR guide RNA sequences for TERF2IP
miRNA Products
- Search ViGene Biosciences for TERF2IP
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TERF2IP
- Browse OriGene Inhibitory RNA Products For TERF2IP
- genomics-online: shRNA clones - Search results for 96 available RAP1 gene related products
- Overview of 96 available RAP1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TERF2IP gene
Clone Products
- Sino Biological Human cDNA Clone for TERF2IP
- VectorBuilder custom plasmid, inducible vectors for TERF2IP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TERF2IP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TERF2IP
- Applied Biological Materials Clones for TERF2IP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||
| SP2: |
Expression for TERF2IP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Ovary (Reproductive System)
- Oviduct
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Blood (Hematopoietic System)
- Pancreas (Endocrine System)
- Bone (Muscoskeletal System)
- Intestine (Gastrointestinal Tract)
-
Adrenal Gland (Endocrine System)
-
Thyroid (Endocrine System)
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, MaxQB, and MOPED for TERF2IP Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TERF2IP Gene:
TERF2IPSOURCE GeneReport for Unigene cluster for TERF2IP Gene:
Hs.301419mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for TERF2IP
-
OriGene qPCR primer pairs and template standards for TERF2IP
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TERF2IP 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | TERF2IP 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | TERF2IP 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Terf2ip 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Terf2ip 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TERF2IP 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TERF2IP 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TERF2IP 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | TERF2IP 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | terf2ip 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | terf2ip 34 |
|
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)
Paralogs for TERF2IP Gene
Pseudogenes.org Pseudogenes for TERF2IP Gene
No data available for Paralogs for TERF2IP Gene
Variants for TERF2IP Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs200287788 | uncertain-significance, Charcot-Marie-Tooth, Intermediate | 75,647,650(+) | G/A | upstream_transcript_variant | |
| rs374675852 | uncertain-significance, not specified, Charcot-Marie-Tooth, Intermediate | 75,647,640(+) | C/A | upstream_transcript_variant | |
| rs764391656 | uncertain-significance, Charcot-Marie-Tooth, Intermediate | 75,647,651(+) | G/A | upstream_transcript_variant | |
| rs869312925 | likely-pathogenic, Inborn genetic diseases | 75,647,618(+) | C/A | upstream_transcript_variant | |
| rs773811440 | uncertain-significance, not specified | 75,647,635(+) | G/A/T | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1065543 | CNV | loss | 25217958 |
| nsv1881 | CNV | insertion | 18451855 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TERF2IP Gene
Disorders for TERF2IP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| melanoma, cutaneous malignant 1 |
|
|
Search TERF2IP in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TERF2IP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for TERF2IP Gene
Publications for TERF2IP Gene
- Identification of human Rap1: implications for telomere evolution. (PMID: 10850490) Li B … de Lange T (Cell 2000) 2 3 4 22 58
- 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 22 44 58
- Shelterin: the protein complex that shapes and safeguards human telomeres. (PMID: 16166375) de Lange T (Genes & development 2005) 3 4 22 58
- 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 22 58
- 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 22 58
Products for TERF2IP Gene
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- GenScript: Next-day shipping of latest version cDNA ORF clones for TERF2IP in any vector
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- GenScript: Design CRISPR guide RNA sequences for TERF2IP
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- Novus Biologicals Antibodies for TERF2IP
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- Novus Biologicals Tissue Microarrays
- Browse Antibodies
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- Abcam antibodies for TERF2IP
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- Find your target
- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
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- Cloud-Clone Corp. Antibodies for TERF2IP
- Cloud-Clone Corp. Proteins for TERF2IP
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- Browse Knockouts at Cloud-Clone Corp.
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- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for TERF2IP
- VectorBuilder custom plasmid, inducible vectors for TERF2IP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TERF2IP
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TERF2IP
- antibodies-online: Search results for 137 available RAP1 Antibodies ranked by validation data
- Compare Top RAP1 Antibodies
- Recommended
- antibodies-online: Search results for 10 available RAP1 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 6 available RAP1 Proteins ranked by validation data
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- GeneTex TERF2IP antibody for TERF2IP
- Search GeneTex for Proteins for TERF2IP
- ViGene Biosciences adenoviral particle packaged cDNA for TERF2IP gene
- ViGene Biosciences lentiviral particle packaged cDNA for TERF2IP gene
- ViGene Biosciences ready-to-package AAV shRNAs for TERF2IP gene
- Search ViGene Biosciences for TERF2IP
- Santa Cruz Biotechnology (SCBT) Antibodies for TERF2IP
- Search Santa Cruz Biotechnology (SCBT) for TERF2IP siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TERF2IP
- Horizon Cell Lines for TERF2IP
- genomics-online: cdna clones - Search results for 96 available RAP1 gene related products
- Overview of 96 available RAP1 gene related products
- orf clones - Search results for 96 available RAP1 gene related products
- Overview of 96 available RAP1 gene related products
- genomics-online: gRNA clones - Search results for 96 available RAP1 gene related products
- Overview of 96 available RAP1 gene related products
- genomics-online: primer clones - Search results for 96 available RAP1 gene related products
- Overview of 96 available RAP1 gene related products
- genomics-online: shRNA clones - Search results for 96 available RAP1 gene related products
- Overview of 96 available RAP1 gene related products
Sources for TERF2IP Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems