TERF2

GPTKB entity

Statements (51)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkb:gene
gptkbp:alternativeName TRF2
Telomeric repeat binding factor 2
gptkbp:associatedWith gptkb:cancer
gptkb:dyskeratosis_congenita
gptkbp:component shelterin complex
gptkbp:discoveredBy Titia de Lange
gptkbp:Entrez_Gene_ID 7014
ENSG00000108395
gptkbp:expressedIn gptkb:nucleus
gptkbp:fullName Telomeric repeat-binding factor 2
gptkbp:function binds telomeric DNA
protects telomeres
regulates telomere length
gptkbp:geneType protein-coding
gptkbp:GO_term gptkb:GO:0003691
GO:0005634
GO:0000723
gptkbp:HGNC_ID HGNC:11731
https://www.w3.org/2000/01/rdf-schema#label TERF2
gptkbp:inhibitedBy ATM kinase activation at telomeres
non-homologous end joining at telomeres
gptkbp:interactsWith gptkb:RAP1
POT1
TPP1
TERF1
TIN2
gptkbp:locatedOnChromosome 16
gptkbp:location 16q22.1
gptkbp:molecularWeight 66 kDa
gptkbp:mutationAssociatedWith chromosomal instability
telomere dysfunction
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologIn gptkb:Danio_rerio
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster
gptkbp:PDB 1H6P
gptkbp:phosphorylates Ser323
Ser365
gptkbp:regulates telomere maintenance
DNA damage response at telomeres
chromosome end protection
telomere capping
gptkbp:reviewedBy gptkb:GeneCards
gptkb:NCBI_Gene
gptkb:UniProtKB/Swiss-Prot
gptkbp:sequence available in GenBank
gptkbp:UniProtID Q15554
gptkbp:bfsParent gptkb:Microspherule_protein_1_(MCRS1)
gptkbp:bfsLayer 8