ENSG00000166848


Homo sapiens

Features
Gene ID: ENSG00000166848
  
Biological name :TERF2IP
  
Synonyms : Q9NYB0 / TERF2 interacting protein / TERF2IP
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q23.1
Gene start: 75647786
Gene end: 75761872
  
Corresponding Affymetrix probe sets: 201174_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000454399
Ensembl peptide - ENSP00000456092
Ensembl peptide - ENSP00000300086
NCBI entrez gene - 54386     See in Manteia.
OMIM - 605061
RefSeq - NM_018975
RefSeq Peptide - NP_061848
swissprot - Q9NYB0
swissprot - H3BMI8
swissprot - H3BR63
Ensembl - ENSG00000166848
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 terf2ipENSDARG00000103977Danio rerio
 TERF2IPENSGALG00000000903Gallus gallus
 Q91VL8ENSMUSG00000033430Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001357  BRCT domain
 IPR009057  Homeobox-like domain superfamily
 IPR015010  Rap1 Myb domain
 IPR021661  TRF2-interacting telomeric protein/Rap1, C-terminal
 IPR036420  BRCT domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance IDA
 biological_processGO:0001933 negative regulation of protein phosphorylation IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IMP
 biological_processGO:0007004 telomere maintenance via telomerase TAS
 biological_processGO:0010569 regulation of double-strand break repair via homologous recombination IEA
 biological_processGO:0010833 telomere maintenance via telomere lengthening IEA
 biological_processGO:0016233 telomere capping TAS
 biological_processGO:0031848 protection from non-homologous end joining at telomere IMP
 biological_processGO:0032204 regulation of telomere maintenance IMP
 biological_processGO:0032205 negative regulation of telomere maintenance IDA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IMP
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEA
 biological_processGO:0048239 negative regulation of DNA recombination at telomere IEA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:0070198 protein localization to chromosome, telomeric region IMP
 biological_processGO:1901224 positive regulation of NIK/NF-kappaB signaling IMP
 biological_processGO:1901985 positive regulation of protein acetylation IMP
 cellular_componentGO:0000228 nuclear chromosome TAS
 cellular_componentGO:0000781 chromosome, telomeric region IDA
 cellular_componentGO:0000783 nuclear telomere cap complex IDA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0030870 Mre11 complex IDA
 cellular_componentGO:0070187 shelterin complex IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019902 phosphatase binding IPI
 molecular_functionGO:0042162 telomeric DNA binding IDA
 molecular_functionGO:0098505 G-rich strand telomeric DNA binding IDA


Pathways (from Reactome)
Pathway description
Meiotic synapsis
Packaging Of Telomere Ends
DNA Damage/Telomere Stress Induced Senescence


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000488 Retinopathy 
Show

 HP:0000958 Dry skin 
Show

 HP:0001480 Freckling 
Show

 HP:0001595 Hair abnormality 
Show

 HP:0002071 Extrapyramidal signs 
Show

 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
Show

 HP:0002894 Pancreatic cancer 
Show

 HP:0003764 Abnormal or excess nevi 
Show

 HP:0006753 Increased gastric cancer 
Show

 HP:0100013 Neoplasia of the breast 
Show

 HP:0100763 Abnormality of the lymphatic system 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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