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TERF2IP (TERF2 interacting protein)

Identity

Alias_namestelomeric repeat binding factor 2
Alias_symbol (synonym)RAP1
Other aliasDRIP5
HGNC (Hugo) TERF2IP
LocusID (NCBI) 54386
Atlas_Id 42523
Location 16q23.1  [Link to chromosome band 16q23]
Location_base_pair Starts at 75647737 and ends at 75657443 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DDR1 (6p21.33) / TERF2IP (16q23.1)FBXL13 (7q22.1) / TERF2IP (16q23.1)PDE8B (5q13.3) / TERF2IP (16q23.1)
SERGEF (11p15.1) / TERF2IP (16q23.1)TERF2IP (16q23.1) / TERF2IP (16q23.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TERF2IP   19246
LRG (Locus Reference Genomic)LRG_1084
Cards
Entrez_Gene (NCBI)TERF2IP  54386  TERF2 interacting protein
AliasesDRIP5; RAP1
GeneCards (Weizmann)TERF2IP
Ensembl hg19 (Hinxton)ENSG00000166848 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166848 [Gene_View]  chr16:75647737-75657443 [Contig_View]  TERF2IP [Vega]
ICGC DataPortalENSG00000166848
TCGA cBioPortalTERF2IP
AceView (NCBI)TERF2IP
Genatlas (Paris)TERF2IP
WikiGenes54386
SOURCE (Princeton)TERF2IP
Genetics Home Reference (NIH)TERF2IP
Genomic and cartography
GoldenPath hg38 (UCSC)TERF2IP  -     chr16:75647737-75657443 +  16q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TERF2IP  -     16q23.1   [Description]    (hg19-Feb_2009)
EnsemblTERF2IP - 16q23.1 [CytoView hg19]  TERF2IP - 16q23.1 [CytoView hg38]
Mapping of homologs : NCBITERF2IP [Mapview hg19]  TERF2IP [Mapview hg38]
OMIM605061   
Gene and transcription
Genbank (Entrez)AA769291 AF250393 AF262988 AF289599 AK000669
RefSeq transcript (Entrez)NM_018975
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TERF2IP
Cluster EST : UnigeneHs.301419 [ NCBI ]
CGAP (NCI)Hs.301419
Alternative Splicing GalleryENSG00000166848
Gene ExpressionTERF2IP [ NCBI-GEO ]   TERF2IP [ EBI - ARRAY_EXPRESS ]   TERF2IP [ SEEK ]   TERF2IP [ MEM ]
Gene Expression Viewer (FireBrowse)TERF2IP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54386
GTEX Portal (Tissue expression)TERF2IP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NYB0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NYB0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NYB0
Splice isoforms : SwissVarQ9NYB0
PhosPhoSitePlusQ9NYB0
Domains : Interpro (EBI)BRCT_dom    Homeobox-like    Rap1_C    Rap1_Myb_dom   
Domain families : Pfam (Sanger)BRCT_2 (PF16589)    Myb_DNA-bind_2 (PF08914)    Rap1_C (PF11626)   
Domain families : Pfam (NCBI)pfam16589    pfam08914    pfam11626   
Conserved Domain (NCBI)TERF2IP
DMDM Disease mutations54386
Blocks (Seattle)TERF2IP
PDB (SRS)1FEX    3K6G    4RQI   
PDB (PDBSum)1FEX    3K6G    4RQI   
PDB (IMB)1FEX    3K6G    4RQI   
PDB (RSDB)1FEX    3K6G    4RQI   
Structural Biology KnowledgeBase1FEX    3K6G    4RQI   
SCOP (Structural Classification of Proteins)1FEX    3K6G    4RQI   
CATH (Classification of proteins structures)1FEX    3K6G    4RQI   
SuperfamilyQ9NYB0
Human Protein AtlasENSG00000166848
Peptide AtlasQ9NYB0
HPRD05452
IPIIPI00008961   
Protein Interaction databases
DIP (DOE-UCLA)Q9NYB0
IntAct (EBI)Q9NYB0
FunCoupENSG00000166848
BioGRIDTERF2IP
STRING (EMBL)TERF2IP
ZODIACTERF2IP
Ontologies - Pathways
QuickGOQ9NYB0
Ontology : AmiGOnuclear chromosome  telomere maintenance  chromosome, telomeric region  chromosome, telomeric region  nuclear telomere cap complex  nuclear chromosome, telomeric region  negative regulation of protein phosphorylation  protein binding  nucleus  nucleus  nuclear envelope  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of transcription, DNA-templated  telomere maintenance via telomerase  regulation of double-strand break repair via homologous recombination  telomere maintenance via telomere lengthening  telomere capping  nuclear body  phosphatase binding  Mre11 complex  protection from non-homologous end joining at telomere  protection from non-homologous end joining at telomere  regulation of telomere maintenance  negative regulation of telomere maintenance  positive regulation of peptidyl-serine phosphorylation  telomeric DNA binding  telomeric DNA binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of DNA recombination at telomere  positive regulation of NF-kappaB transcription factor activity  shelterin complex  protein localization to chromosome, telomeric region  G-rich strand telomeric DNA binding  positive regulation of NIK/NF-kappaB signaling  positive regulation of protein acetylation  
Ontology : EGO-EBInuclear chromosome  telomere maintenance  chromosome, telomeric region  chromosome, telomeric region  nuclear telomere cap complex  nuclear chromosome, telomeric region  negative regulation of protein phosphorylation  protein binding  nucleus  nucleus  nuclear envelope  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of transcription, DNA-templated  telomere maintenance via telomerase  regulation of double-strand break repair via homologous recombination  telomere maintenance via telomere lengthening  telomere capping  nuclear body  phosphatase binding  Mre11 complex  protection from non-homologous end joining at telomere  protection from non-homologous end joining at telomere  regulation of telomere maintenance  negative regulation of telomere maintenance  positive regulation of peptidyl-serine phosphorylation  telomeric DNA binding  telomeric DNA binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of DNA recombination at telomere  positive regulation of NF-kappaB transcription factor activity  shelterin complex  protein localization to chromosome, telomeric region  G-rich strand telomeric DNA binding  positive regulation of NIK/NF-kappaB signaling  positive regulation of protein acetylation  
NDEx NetworkTERF2IP
Atlas of Cancer Signalling NetworkTERF2IP
Wikipedia pathwaysTERF2IP
Orthology - Evolution
OrthoDB54386
GeneTree (enSembl)ENSG00000166848
Phylogenetic Trees/Animal Genes : TreeFamTERF2IP
HOVERGENQ9NYB0
HOGENOMQ9NYB0
Homologs : HomoloGeneTERF2IP
Homology/Alignments : Family Browser (UCSC)TERF2IP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTERF2IP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TERF2IP
dbVarTERF2IP
ClinVarTERF2IP
1000_GenomesTERF2IP 
Exome Variant ServerTERF2IP
ExAC (Exome Aggregation Consortium)TERF2IP (select the gene name)
Genetic variants : HAPMAP54386
Genomic Variants (DGV)TERF2IP [DGVbeta]
DECIPHERTERF2IP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTERF2IP 
Mutations
ICGC Data PortalTERF2IP 
TCGA Data PortalTERF2IP 
Broad Tumor PortalTERF2IP
OASIS PortalTERF2IP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTERF2IP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTERF2IP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TERF2IP
DgiDB (Drug Gene Interaction Database)TERF2IP
DoCM (Curated mutations)TERF2IP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TERF2IP (select a term)
intoGenTERF2IP
Cancer3DTERF2IP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605061   
Orphanet3560   
MedgenTERF2IP
Genetic Testing Registry TERF2IP
NextProtQ9NYB0 [Medical]
TSGene54386
GENETestsTERF2IP
Target ValidationTERF2IP
Huge Navigator TERF2IP [HugePedia]
snp3D : Map Gene to Disease54386
BioCentury BCIQTERF2IP
ClinGenTERF2IP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54386
Chemical/Pharm GKB GenePA134976325
Clinical trialTERF2IP
Miscellaneous
canSAR (ICR)TERF2IP (select the gene name)
Probes
Litterature
PubMed91 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTERF2IP
EVEXTERF2IP
GoPubMedTERF2IP
iHOPTERF2IP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:59:04 CEST 2017

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