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
  • dyskeratosis congenita autosomal dominant type 3
  • Revesz syndrome (retinopathy exudative with bone marrow failure)

More general terms

• nuclear protein
• phosphoprotein

Component of

• double-stranded telomeric DNA-binding TRF1 complex
• shelterin complex (telosome)

Database

• OMIM: https://mirror.omim.org/entry/604319
• UniProt: http://www.uniprot.org/uniprot/Q9BSI4.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=26277
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:26277
• OMIM: https://mirror.omim.org/entry/268130
• OMIM: https://mirror.omim.org/entry/604319
• OMIM: https://mirror.omim.org/entry/613990
• UniProt: http://www.uniprot.org/uniprot/Q9BSI4.html