Free for academic non-profit institutions. Other users need a Commercial license
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
External Ids for TERF2IP Gene
- HGNC: 19246
- NCBI Entrez Gene: 54386
- Ensembl: ENSG00000166848
- OMIM®: 605061
- UniProtKB/Swiss-Prot: 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 and Revesz Syndrome. Among its related pathways are Telomere Extension by Telomerase and Chromatin Regulation / Acetylation. 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.
Additional gene information for TERF2IP Gene
- HGNC (19246)
- NCBI Entrez Gene (54386)
- Ensembl (ENSG00000166848)
- OMIM® (605061)
- UniProtKB/Swiss-Prot (Q9NYB0)
- Open Targets Platform(ENSG00000166848)
- Monarch Initiative
- Search for TERF2IP at DataMed
- Search for TERF2IP at HumanCyc
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 Pubs
Promoters and enhancers for TERF2IP Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
- 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
Latest Assembly
- chr16:75,647,773-75,761,872
- (GRCh38/hg38)
- Size:
- 114,100 bases
- Orientation:
- Plus strand
Previous Assembly
- chr16:75,681,671-75,691,330
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 9,660 bases
- Orientation:
- Plus strand
- chr16:75,681,684-75,795,770
- (GRCh37/hg19 by Ensembl)
- Size:
- 114,087 bases
- Orientation:
- Plus strand
Genomic View for TERF2IP Gene
Genes around TERF2IP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q23.1 by HGNC
- 16q23.1 by Entrez Gene
- 16q23.1 by Ensembl
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.
- 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};
- Miscellaneous:
-
- Shares a bidirectional promoter with KARS1.
Protein Expression for TERF2IP Gene
Post-translational modifications for TERF2IP Gene
Other Protein References for TERF2IP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences TERF2IP / RAP1 Antibody (LS-B5895) and TERF2IP / RAP1 Antibody (LS-B11292)
- G Biosciences Immunotag™ RAP1 Antibody
- Novus Biologicals Antibodies for TERF2IP
-
Abcam antibodies for TERF2IP
- Invitrogen Antibodies for TERF2IP (AFLGC-TERF2IP)
- antibodies-online: Show 94 available RAP1 Antibodies ranked by validation data
- Compare Top RAP1 Antibodies
-
Recommended
-
Boster Bio Antibodies for TERF2IP
-
Custom Antibody ServicesProSci Antibodies for TERF2IP
-
Santa Cruz Biotechnology (SCBT) Antibodies for TERF2IP
- Sino Biological Antibodies for TERF2IP
Protein products for research
-
OriGene Purified Proteins for TERF2IP
- Search Origene for MassSpec and Protein Over-expression Lysates for TERF2IP
- Origene Custom Protein Services for TERF2IP
-
Abcam proteins for TERF2IP
Assay products for research
-
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:
-
- BRCT domain
- ProtoNet:
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- 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.
Phenotypes From GWAS Catalog for TERF2IP Gene
| 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 5 alleles
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- liver/biliary system phenotype
- hematopoietic system phenotype
- reproductive system phenotype
- integument phenotype
- pigmentation phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for TERF2IP:
Animal Models for TERF2IP Gene
- MGI Knock Outs for TERF2IP:
-
- Terf2ip Terf2ip<tm1.2Tdl>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TERF2IP - Starting at $85 >
- * TERF2IP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TERF2IP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TERF2IP
-
Santa Cruz Biotechnology (SCBT) CRISPR for TERF2IP
miRNA for TERF2IP Gene
- miRTarBase miRNAs that target TERF2IP
-
- mmu-miR-7b-5p (MIRT009350)
- 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)
- mmu-miR-466k (MIRT580521)
- mmu-miR-466d-5p (MIRT580522)
- mmu-miR-466l-5p (MIRT580523)
- mmu-miR-466i-5p (MIRT580524)
- mmu-miR-499-5p (MIRT588697)
- mmu-miR-679-5p (MIRT588698)
- mmu-miR-881-3p (MIRT588699)
- mmu-miR-686 (MIRT597050)
- mmu-miR-470-5p (MIRT597051)
- mmu-miR-3073a-5p (MIRT597052)
- mmu-miR-3059-5p (MIRT601539)
- mmu-miR-1933-5p (MIRT601540)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TERF2IP
- Browse OriGene Inhibitory RNA Products For TERF2IP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TERF2IP
Clone products for research
- Applied Biological Materials (abm): Clones for TERF2IP - Starting at $45 >
- * TERF2IP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG206137
- MG206145
- MR206137
- MR206137L3
- MR206137L4
- MR206145
- MR206145L1
- MR206145L2
- MR206145L3
- MR206145L4
- RC205112
- RC205112L1
- RC205112L2
- RC205112L3
- RC205112L4
- RG205112
- RR215114
- RR215114L3
- RR215114L4
- MR206137L3V
- MR206137L4V
- MR206145L1V
- MR206145L2V
- MR206145L3V
- MR206145L4V
- RC205112L1V
- RC205112L2V
- RC205112L3V
- RC205112L4V
- RR215114L3V
- RR215114L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TERF2IP
- Addgene plasmids for TERF2IP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TERF2IP
Cell Lines for research
-
Horizon Cell Lines for TERF2IP
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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Nuclear bodies (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | TAS | 10850490 |
| GO:0000781 | chromosome, telomeric region | IEA,ISS | -- |
| GO:0000783 | nuclear telomere cap complex | IDA | 15181449 |
| GO:0005634 | nucleus | IEA,ISS | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
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
- Telomere Extension by Telomerase
2 Cell Signaling Technology pathways for TERF2IP Gene
Interacting Proteins for TERF2IP Gene
Selected Interacting proteins:
Q9NYB0-TE2IP_HUMAN
ENSP00000300086
for TERF2IP Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TERF2IP
| 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 | IEA,ISS | -- |
| GO:0007004 | telomere maintenance via telomerase | TAS | 10850490 |
| GO:0010569 | regulation of double-strand break repair via homologous recombination | IEA,ISS | -- |
No data available for SIGNOR curated interactions for TERF2IP Gene
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 :
-
- ENST00000300086 2131 nts (view in UCSC)
- ENST00000564671 1266 nts (view in UCSC)
- ENST00000569234 639 nts (view in UCSC)
- ENST00000653858 1976 nts (view in UCSC)
- ENST00000659145 1140 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TERF2IP - Starting at $85 >
- * TERF2IP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TERF2IP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TERF2IP
-
Santa Cruz Biotechnology (SCBT) CRISPR for TERF2IP
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TERF2IP
- Browse OriGene Inhibitory RNA Products For TERF2IP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TERF2IP
Clone products for research
- Applied Biological Materials (abm): Clones for TERF2IP - Starting at $45 >
- * TERF2IP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG206137
- MG206145
- MR206137
- MR206137L3
- MR206137L4
- MR206145
- MR206145L1
- MR206145L2
- MR206145L3
- MR206145L4
- RC205112
- RC205112L1
- RC205112L2
- RC205112L3
- RC205112L4
- RG205112
- RR215114
- RR215114L3
- RR215114L4
- MR206137L3V
- MR206137L4V
- MR206145L1V
- MR206145L2V
- MR206145L3V
- MR206145L4V
- RC205112L1V
- RC205112L2V
- RC205112L3V
- RC205112L4V
- RR215114L3V
- RR215114L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TERF2IP
- Addgene plasmids for TERF2IP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TERF2IP
| 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 embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
- Oviduct
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
- Pancreas (Endocrine System)
- Blood (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Adrenal Gland (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, MaxQB, and MOPED 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.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(4.6)
- Skin(4.5)
- Liver(4.4)
- Intestine(4.4)
- Bone marrow(2.2)
- Eye(2.2)
- Blood(2.1)
- Heart(2.1)
- Kidney(2.1)
- Muscle(2)
Primer products for research
-
OriGene qPCR primer pairs for TERF2IP
-
OriGene qPCR primer pairs and template standards for TERF2IP
Gene Expression Assays for research
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TERF2IP 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TERF2IP 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Terf2ip 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Terf2ip 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TERF2IP 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TERF2IP 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TERF2IP 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TERF2IP 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | terf2ip 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | terf2ip 31 |
|
OneToOne |
- Species where no ortholog for TERF2IP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
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 |
|
|
| revesz syndrome |
|
|
| coats disease |
|
|
| dyskeratosis congenita |
|
|
| skin melanoma |
|
|
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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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 23
- 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
- Shelterin: the protein complex that shapes and safeguards human telomeres. (PMID: 16166375) de Lange T (Genes & development 2005) 3 4 23
- 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
- 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
ExternalLinks
Products for TERF2IP Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for TERF2IP
- Search Origene for MassSpec and Protein Over-expression Lysates for TERF2IP
- Origene Custom Protein Services for TERF2IP
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TERF2IP
- Browse OriGene Inhibitory RNA Products For TERF2IP
- OriGene qPCR primer pairs for TERF2IP
- OriGene qPCR primer pairs and template standards for TERF2IP
- OriGene CRISPR knockouts for TERF2IP
- MG206137
- MG206145
- MR206137
- MR206137L3
- MR206137L4
- MR206145
- MR206145L1
- MR206145L2
- MR206145L3
- MR206145L4
- RC205112
- RC205112L1
- RC205112L2
- RC205112L3
- RC205112L4
- RG205112
- RR215114
- RR215114L3
- RR215114L4
- MR206137L3V
- MR206137L4V
- MR206145L1V
- MR206145L2V
- MR206145L3V
- MR206145L4V
- RC205112L1V
- RC205112L2V
- RC205112L3V
- RC205112L4V
- RR215114L3V
- RR215114L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TERF2IP
- Sino Biological Human cDNA Clone for TERF2IP
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for TERF2IP
- Browse Sino Biological Assays
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for TERF2IP
- Novus Biologicals proteins and lysates for TERF2IP
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for TERF2IP
- Abcam proteins for TERF2IP
- Abcam assays for TERF2IP
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for TERF2IP (AFLGC-TERF2IP)
- VectorBuilder Custom and pre-made DNA vectors for TERF2IP (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TERF2IP (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TERF2IP (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TERF2IP CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TERF2IP
- Addgene plasmids for TERF2IP
- antibodies-online: Show 94 available RAP1 Antibodies ranked by validation data
- Compare Top RAP1 Antibodies
- Recommended
- antibodies-online: Show 14 available RAP1 Elisa Kits ranked by validation data
- Compare Top RAP1 Elisa Kits
- antibodies-online: Show 7 available RAP1 Proteins ranked by validation data
- Compare Top RAP1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for TERF2IP
- Search Santa Cruz Biotechnology (SCBT) for TERF2IP siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TERF2IP
- Custom Antibody ServicesProSci Antibodies for TERF2IP
- Search for TERF2IP Proteins at ProSci
- Horizon Cell Lines for TERF2IP
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TERF2IP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TERF2IP
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TERF2IP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TERF2IP
- Boster Bio Antibodies for TERF2IP
- Browse Boster Bio ELISA Kits
Sources for TERF2IP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB