TINF2 (TERF1 interacting nuclear factor 2)

2003-02-01  

Identity

HGNC
LOCATION
14q12
LOCUSID
ALIAS
DKCA3,TIN2

Other Information

Locus ID:

NCBI: 26277
MIM: 604319
HGNC: 11824
Ensembl: ENSG00000092330

Variants:

dbSNP: 26277
ClinVar: 26277
TCGA: ENSG00000092330
COSMIC: TINF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092330ENST00000267415Q9BSI4
ENSG00000092330ENST00000557921H0YLC9
ENSG00000092330ENST00000558476H0YKA6
ENSG00000092330ENST00000558566H0YL20
ENSG00000092330ENST00000559019H0YMN3
ENSG00000092330ENST00000560019H0YL96
ENSG00000092330ENST00000626689H0YL20
ENSG00000092330ENST00000646753B4DFJ1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Shelterin complexKEGGhsa_M00424
Shelterin complexKEGGM00424
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Packaging Of Telomere EndsREACTOMER-HSA-171306
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
DNA Damage/Telomere Stress Induced SenescenceREACTOMER-HSA-2559586

References

Pubmed IDYearTitleCitations
182522302008TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.157
153160052004TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres.121
204040942010TIN2-tethered TPP1 recruits human telomerase to telomeres in vivo.113
186698932008TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.112
186698932008TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.112
168803782006A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly.94
152922642004TIN2 mediates functions of TRF2 at human telomeres.79
151335132004TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex.68
212093892010How shelterin solves the telomere end-protection problem.62
255391462015Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.43

Citation

Dessen P

TINF2 (TERF1 interacting nuclear factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42575/tinf2