TERF1-interacting nuclear factor 2; TRF1-interacting nuclear protein 2 (TINF2, TIN2)

Function: - regulation of telomere length - prevents excessive telomere elongation - found in a complex with POT1, TERF1 & TNKS1 - binds to TERF1 - component of the shelterin complex (telosome) Structure: - monomer - the TBM domain mediates interaction with TERF1 Compartment: nuclear, associated with telomeres Alternative splicing: named isoforms=3 Expression: - expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas Pathology: - defects in TINF2 are a cause of a) dyskeratosis congenita autosomal dominant type 3 b) Revesz syndrome (retinopathy exudative with bone marrow failure)

General

nuclear protein phosphoprotein

Properties

SIZE: entity length = 451 aa MW = 50 kD COMPARTMENT: cell nucleus MOTIF: TBM {256-278} MOTIF: nuclear translocation signal {262-268} Ser phosphorylation site {S295}

Database Correlations

OMIM correlations MORBIDMAP 604319 UniProt Q9BSI4 Entrez Gene 26277 Kegg hsa:26277

References

UniProt :accession Q9BSI4