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TERF2IP (TERF2 interacting protein)
Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54386
Gene nameGene Name - the full gene name approved by the HGNC.
TERF2 interacting protein
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TERF2IP
SynonymsGene synonyms aliases
DRIP5, RAP1
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.1
SummarySummary of gene provided in NCBI Entrez 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]
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT016173 hsa-miR-590-3p Sequencing 20371350
MIRT028687 hsa-miR-27a-3p Sequencing 20371350
MIRT031567 hsa-miR-16-5p Sequencing 20371350
MIRT052183 hsa-let-7b-5p CLASH 23622248
MIRT048531 hsa-miR-100-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000228 Component Nuclear chromosome TAS 10850490
GO:0000723 Process Telomere maintenance IDA 14565979
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000781 Component Chromosome, telomeric region IDA 12768206, 14565979, 15109494, 21076401, 23685356, 24270157
GO:0000781 Component Chromosome, telomeric region ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NYB0
Protein name Telomeric repeat-binding factor 2-interacting protein 1 (TERF2-interacting telomeric protein 1) (TRF2-interacting telomeric protein 1) (Dopamine receptor-interacting protein 5) (Repressor/activator protein 1 homolog) (RAP1 homolog) (hRap1)
Protein 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 com
PDB 1FEX , 3K6G , 4RQI , 7OZ0 , 8RD4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16589 BRCT_2
17 → 100
BRCT domain, a BRCA1 C-terminus domain
 Family
PF08914 Myb_DNA-bind_2
132 → 196
Rap1 Myb domain
 Domain
PF11626 Rap1_C
321 → 398
TRF2-interacting telomeric protein/Rap1 - C terminal domain
 Family
Sequence 
MAEAMDLGKDPNGPTHSSTLFVRDDGSSMSFYVRPSPAKRRLSTLILHGGGTVCRVQEPG
AVLLAQPGEALAEASGDFISTQYILDCVERNERLELEAYRLGPASAADTGSEAKPGALAE
GAAEPEPQRHAGRIAFTDADDVAILTYVKENARSPSSVTGNALWKAMEKSSLTQHSWQSL
KDRYLKHLRGQEHKYLLGDAPVSPSSQKLKRKAEEDPEAADSGEPQNKRTPDLPEEEYVK
EEIQENEEAVKKMLVEATREFEEVVVDESPPDFEIHITMCDDDPPTPEEDSETQPDEEEE
EEEEKVSQPEVGAAIKIIRQLMEKFNLDLSTVTQAFLKNSGELEATSAFLASGQRADGYP
IWSRQDDIDLQKDDEDTREALVKKFGAQNVARRIEFRKK
Sequence length 399
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Packaging Of Telomere Ends
Telomere Extension By Telomerase
DNA Damage/Telomere Stress Induced Senescence
Associated diseases
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Melanoma melanoma, Familial melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050
Unknown
Disease name Disease term dbSNP ID References
Atypical mole melanoma syndrome Familial Atypical Mole Melanoma Syndrome 25431349
Mammary neoplasms Mammary Neoplasms
Nevus Nevus
Pancreatic neoplasm Pancreatic Neoplasm

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