Gene Gene information from NCBI Gene database.
Entrez ID 54386
Gene name TERF2 interacting protein
Gene symbol TERF2IP
Synonyms (NCBI Gene)
DRIP5RAP1
Chromosome 16
Chromosome location 16q23.1
Summary 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]
miRNA miRNA information provided by mirtarbase database.
648
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0000228 Component Nuclear chromosome TAS 10850490
GO:0000723 Process Telomere maintenance IDA 14565979
GO:0000723 Process Telomere maintenance IEA
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000781 Component Chromosome, telomeric region IDA 12768206, 14565979, 15109494, 21076401, 23685356, 24270157
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605061 19246 ENSG00000166848
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed.
Sequence
MAEAMDLGKDPNGPTHSSTLFVRDDGSSMSFYVRPSPAKRRLSTLILHGGGTVCRVQEPG
AVLLAQPGEALAEASGDFISTQYILDCVERNERLELEAYR
LGPASAADTGSEAKPGALAE
GAAEPEPQRHAGRIAFTDADDVAILTYVKENARSPSSVTGNALWKAMEKSSLTQHSWQSL
KDRYLKHLRGQEHKYL
LGDAPVSPSSQKLKRKAEEDPEAADSGEPQNKRTPDLPEEEYVK
EEIQENEEAVKKMLVEATREFEEVVVDESPPDFEIHITMCDDDPPTPEEDSETQPDEEEE
EEEEKVSQPEVGAAIKIIRQLMEKFNLDLSTVTQAFLKNSGELEATSAFLASGQRADGYP
IWSRQDDIDLQKDDEDTREALVKKFGAQNVARRIEFRK
K
Sequence length 399
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL MELANOMA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasm Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 26765095
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22211192
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 28786706
★☆☆☆☆
Found in Text Mining only
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 30257685
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 12469204
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 31476350 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 20436929
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 29925524
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21429211, 31151140
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 12007281, 28196746
★☆☆☆☆
Found in Text Mining only