TINF2

Protein-coding gene in the species Homo sapiens
TINF2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3BQO, 3BU8

Identifiers
AliasesTINF2, DKCA3, TIN2, TERF1 interacting nuclear factor 2
External IDsOMIM: 604319; MGI: 107246; HomoloGene: 8264; GeneCards: TINF2; OMA:TINF2 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for TINF2
Genomic location for TINF2
Band14q12Start24,239,643 bp[1]
End24,242,674 bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for TINF2
Genomic location for TINF2
Band14 C3|14 28.19 cMStart55,912,146 bp[2]
End55,919,277 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • granulocyte

  • right adrenal gland

  • right adrenal cortex

  • left adrenal gland

  • monocyte

  • left adrenal cortex

  • bone marrow cells

  • blood

  • tonsil

  • spleen
Top expressed in
  • primary oocyte

  • secondary oocyte

  • primitive streak

  • zygote

  • epiblast

  • seminiferous tubule

  • spermatocyte

  • tail of embryo

  • granulocyte

  • somite
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • DNA binding
  • telomeric DNA binding
  • protein binding
Cellular component
  • nuclear telomere cap complex
  • nuclear matrix
  • perinucleolar chromocenter
  • nucleoplasm
  • chromosome
  • shelterin complex
  • telomere
  • nucleus
  • nuclear body
Biological process
  • protein localization to chromosome, telomeric region
  • negative regulation of epithelial cell proliferation
  • telomere assembly
  • negative regulation of protein ADP-ribosylation
  • telomere capping
  • negative regulation of telomere maintenance via telomerase
  • regulation of telomere maintenance via telomere lengthening
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

26277

28113

Ensembl

ENSG00000092330
ENSG00000284915

ENSMUSG00000007589

UniProt

Q9BSI4

Q9QXG9
Q8K1K3

RefSeq (mRNA)

NM_001099274
NM_012461
NM_001363668

NM_145705

RefSeq (protein)

NP_001092744
NP_036593
NP_001350597

NP_663751

Location (UCSC)Chr 14: 24.24 – 24.24 MbChr 14: 55.91 – 55.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

TERF1-interacting nuclear factor 2 is a protein that in humans is encoded by the TINF2 gene.[5][6] TINF2 is a component of the shelterin protein complex found at the end of telomeres.[7]

Interactions

TINF2 has been shown to interact with ACD,[8][9] POT1[8][9][10] and TERF1.[5][9][11]

References

  1. ^ a b c ENSG00000284915 GRCh38: Ensembl release 89: ENSG00000092330, ENSG00000284915 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007589 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Kim SH, Kaminker P, Campisi J (Dec 1999). "TIN2, a new regulator of telomere length in human cells". Nature Genetics. 23 (4): 405–12. doi:10.1038/70508. PMC 4940194. PMID 10581025.
  6. ^ "Entrez Gene: TINF2 TERF1 (TRF1)-interacting nuclear factor 2".
  7. ^ Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP (Feb 2008). "TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita". American Journal of Human Genetics. 82 (2): 501–9. doi:10.1016/j.ajhg.2007.10.004. PMC 2427222. PMID 18252230.
  8. ^ a b Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T (Jul 2004). "POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex". Genes & Development. 18 (14): 1649–54. doi:10.1101/gad.1215404. PMC 478187. PMID 15231715.
  9. ^ a b c Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z (Jul 2004). "PTOP interacts with POT1 and regulates its localization to telomeres". Nature Cell Biology. 6 (7): 673–80. doi:10.1038/ncb1142. PMID 15181449. S2CID 11543383.
  10. ^ Loayza D, De Lange T (Jun 2003). "POT1 as a terminal transducer of TRF1 telomere length control". Nature. 423 (6943): 1013–8. Bibcode:2003Natur.423.1013L. doi:10.1038/nature01688. PMID 12768206. S2CID 4370276.
  11. ^ Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070.

Further reading

  • Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Li B, Oestreich S, de Lange T (May 2000). "Identification of human Rap1: implications for telomere evolution". Cell. 101 (5): 471–83. doi:10.1016/S0092-8674(00)80858-2. PMID 10850490.
  • Mignon-Ravix C, Depetris D, Delobel B, Croquette MF, Mattei MG (Feb 2002). "A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins". European Journal of Human Genetics. 10 (2): 107–12. doi:10.1038/sj.ejhg.5200775. PMID 11938440.
  • Yamada M, Tsuji N, Nakamura M, Moriai R, Kobayashi D, Yagihashi A, Watanabe N (2003). "Down-regulation of TRF1, TRF2 and TIN2 genes is important to maintain telomeric DNA for gastric cancers". Anticancer Research. 22 (6A): 3303–7. PMID 12530079.
  • Loayza D, De Lange T (Jun 2003). "POT1 as a terminal transducer of TRF1 telomere length control". Nature. 423 (6943): 1013–8. Bibcode:2003Natur.423.1013L. doi:10.1038/nature01688. PMID 12768206. S2CID 4370276.
  • Kim SH, Han S, You YH, Chen DJ, Campisi J (Jul 2003). "The human telomere-associated protein TIN2 stimulates interactions between telomeric DNA tracts in vitro". EMBO Reports. 4 (7): 685–91. doi:10.1038/sj.embor.embor872. PMC 1326318. PMID 12835755.
  • Loayza D, Parsons H, Donigian J, Hoke K, de Lange T (Mar 2004). "DNA binding features of human POT1: a nonamer 5'-TAGGGTTAG-3' minimal binding site, sequence specificity, and internal binding to multimeric sites". The Journal of Biological Chemistry. 279 (13): 13241–8. doi:10.1074/jbc.M312309200. PMID 14715659.
  • Ye JZ, de Lange T (Jun 2004). "TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex". Nature Genetics. 36 (6): 618–23. doi:10.1038/ng1360. PMID 15133513.
  • Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z (Jul 2004). "PTOP interacts with POT1 and regulates its localization to telomeres". Nature Cell Biology. 6 (7): 673–80. doi:10.1038/ncb1142. PMID 15181449. S2CID 11543383.
  • Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T (Jul 2004). "POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex". Genes & Development. 18 (14): 1649–54. doi:10.1101/gad.1215404. PMC 478187. PMID 15231715.
  • Kim SH, Beausejour C, Davalos AR, Kaminker P, Heo SJ, Campisi J (Oct 2004). "TIN2 mediates functions of TRF2 at human telomeres". The Journal of Biological Chemistry. 279 (42): 43799–804. doi:10.1074/jbc.M408650200. PMID 15292264.
  • Ye JZ, Donigian JR, van Overbeek M, Loayza D, Luo Y, Krutchinsky AN, Chait BT, de Lange T (Nov 2004). "TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres". The Journal of Biological Chemistry. 279 (45): 47264–71. doi:10.1074/jbc.M409047200. PMID 15316005.
  • Liu D, O'Connor MS, Qin J, Songyang Z (Dec 2004). "Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins". The Journal of Biological Chemistry. 279 (49): 51338–42. doi:10.1074/jbc.M409293200. PMID 15383534.
  • Oh BK, Kim YJ, Park C, Park YN (Jan 2005). "Up-regulation of telomere-binding proteins, TRF1, TRF2, and TIN2 is related to telomere shortening during human multistep hepatocarcinogenesis". The American Journal of Pathology. 166 (1): 73–80. doi:10.1016/S0002-9440(10)62233-X. PMC 1602303. PMID 15632001.
  • Kaminker P, Plachot C, Kim SH, Chung P, Crippen D, Petersen OW, Bissell MJ, Campisi J, Lelièvre SA (Mar 2005). "Higher-order nuclear organization in growth arrest of human mammary epithelial cells: a novel role for telomere-associated protein TIN2". Journal of Cell Science. 118 (Pt 6): 1321–30. doi:10.1242/jcs.01709. PMC 2933191. PMID 15741234.

External links

  • GeneReviews/NCBI/NIH/UW entry on Dyskeratosis Congenita
  • PDBe-KB provides an overview of all the structure information available in the PDB for Human TERF1-interacting nuclear factor 2 (TINF2)
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