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
355900142023Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.1
366512962023Phosphorylation of TRF2 promotes its interaction with TIN2 and regulates DNA damage response at telomeres.3
376118252023eIF3i promotes colorectal cancer cell survival via augmenting PHGDH translation.2
376460132023TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.2
355900142023Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.1
366512962023Phosphorylation of TRF2 promotes its interaction with TIN2 and regulates DNA damage response at telomeres.3
376118252023eIF3i promotes colorectal cancer cell survival via augmenting PHGDH translation.2
376460132023TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.2
344036962021Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.5
344795232021Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.8
344036962021Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.5
344795232021Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.8
319281782020A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.22
329109902020Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway.8
332584462020TINF2 is a haploinsufficient tumor suppressor that limits telomere length.24

Citation

Dessen P

TINF2 (TERF1 interacting nuclear factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

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