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Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 [ Mus musculus (house mouse) ]

Gene ID: 28113, updated on 9-Dec-2024

Summary

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Official Symbol
Tinf2provided by MGI
Official Full Name
Terf1 (TRF1)-interacting nuclear factor 2provided by MGI
Primary source
MGI:MGI:107246
See related
Ensembl:ENSMUSG00000007589 AllianceGenome:MGI:107246
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Tin2; D14Wsu146e
Summary
Enables telomeric DNA binding activity. Acts upstream of or within negative regulation of telomere maintenance. Located in chromosome, telomeric region. Is expressed in several structures, including genitourinary system; midbrain ventricular layer; olfactory epithelium; telencephalon; and thymus primordium. Used to study dyskeratosis congenita. Human ortholog(s) of this gene implicated in Revesz syndrome and autosomal dominant dyskeratosis congenita 3. Orthologous to human TINF2 (TERF1 interacting nuclear factor 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 11.0), placenta adult (RPKM 8.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Tinf2 in Genome Data Viewer
Location:
14 C3; 14 28.19 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (55912120..55919265, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (55676208..55682159, complement)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene magnesium-dependent phosphatase 1 Neighboring gene neural precursor cell expressed, developmentally down-regulated gene 8 Neighboring gene guanosine monophosphate reductase 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:56300752-56300861 Neighboring gene predicted gene, 25887 Neighboring gene transglutaminase 1, K polypeptide Neighboring gene STARR-seq mESC enhancer starr_36777

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. TIN2 deficiency leads to ALT-associated phenotypes and differentiation defects in embryonic stem cells. Yin S, et al. Stem Cell Reports, 2022 May 10. PMID 35395177, Free PMC Article
  2. TIN2-mediated reduction of mitophagy induces RPE senescence under high glucose. Zhang S, et al. Cell Signal, 2024 Jul. PMID 38657846
  3. TIN2 is an architectural protein that facilitates TRF2-mediated trans- and cis-interactions on telomeric DNA. Kaur P, et al. Nucleic Acids Res, 2021 Dec 16. PMID 34883513, Free PMC Article
  4. Gene dosage reductions of Trf1 and/or Tin2 induce telomere DNA damage and lymphoma formation in aging mice. Hartmann K, et al. Leukemia, 2016 Mar. PMID 26135248, Free PMC Article
  5. A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice. Frescas D, et al. Genes Dev, 2014 Jan 15. PMID 24449270, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TIN2-mediated reduction of mitophagy induces RPE senescence under high glucose.
    Title: TIN2-mediated reduction of mitophagy induces RPE senescence under high glucose.
  2. TIN2 is an architectural protein that facilitates TRF2-mediated trans- and cis-interactions on telomeric DNA.
    Title: TIN2 is an architectural protein that facilitates TRF2-mediated trans- and cis-interactions on telomeric DNA.
  3. The TIN2 plays an important role in maintaining the stable shelterin complex required for proper telomere end protection.
    Title: Structural and functional analyses of the mammalian TIN2-TPP1-TRF2 telomeric complex.
  4. Gene dosage reductions of Trf1 and/or Tin2 induce telomere DNA damage and lymphoma formation in aging mice.
    Title: Gene dosage reductions of Trf1 and/or Tin2 induce telomere DNA damage and lymphoma formation in aging mice.
  5. demonstrated that cells expressing TIN2DeltaTPP1 instead of wild-type TIN2 phenocopy the POT1a,b knockout setting without showing additional phenotypes
    Title: Binding of TPP1 protein to TIN2 protein is required for POT1a,b protein-mediated telomere protection.
  6. shelterin protein TIN2 can protect chromosome ends as a TRF2-tethered TIN2/TPP1/POT1 complex that lacks a physical connection to TRF1
    Title: TRF2-tethered TIN2 can mediate telomere protection by TPP1/POT1.
  7. telomere shortening was accelerated in TIN2(+/DC) mTR(-/-) mice and MEFs compared with TIN2(+/+) mTR(-/-) controls, establishing that the TIN2(DC) telomere maintenance defect was not solely due to diminished telomerase action
    Title: A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.
  8. Telomere protection by TPP1/POT1 requires tethering to TIN2.
    Title: Telomere protection by TPP1/POT1 requires tethering to TIN2.
  9. Mouse gene deletion experiments revealed DNA-damage-response pathways that threaten chromosome ends and how the components of the telomeric shelterin complex prevent activation of these pathways.[Shelterin]
    Title: How shelterin solves the telomere end-protection problem.
  10. TIN2 has a role independent of telomere length regulation that is essential for embryonic development and cell viability
    Title: Telomere-associated protein TIN2 is essential for early embryonic development through a telomerase-independent pathway.
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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables telomeric DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables telomeric DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables telomeric DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in negative regulation of epithelial cell proliferation ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of protein ADP-ribosylation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of telomere maintenance IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of telomere maintenance via telomerase ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of telomere maintenance NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein localization to chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of telomere maintenance via telomere lengthening IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of telomere maintenance via telomere lengthening ISO
Inferred from Sequence Orthology
more info
  
involved_in telomere assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in telomere capping IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in telomere capping ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
  
part_of nuclear telomere cap complex ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in perinucleolar chromocenter ISO
Inferred from Sequence Orthology
more info
  
part_of shelterin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of shelterin complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
TERF1-interacting nuclear factor 2
Names
TRF1-interacting nuclear factor 2
TRF1-interacting nuclear protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001404599.1 → NP_001391528.1  TERF1-interacting nuclear factor 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    CT025679

  2. NM_001404600.1 → NP_001391529.1  TERF1-interacting nuclear factor 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    CT025679
    UniProtKB/TrEMBL
    A0A2I3BRL3, Q3UMZ4
    Related
    ENSMUSP00000154628.2, ENSMUST00000227842.2

  3. NM_001404601.1 → NP_001391530.1  TERF1-interacting nuclear factor 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    CT025679
    UniProtKB/TrEMBL
    Q8CJ45

  4. NM_001404602.1 → NP_001391531.1  TERF1-interacting nuclear factor 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    CT025679
    UniProtKB/TrEMBL
    Q3UMZ4

  5. NM_001404603.1 → NP_001391532.1  TERF1-interacting nuclear factor 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    CT025679
    UniProtKB/TrEMBL
    Q3UMZ4

  6. NM_001404604.1 → NP_001391533.1  TERF1-interacting nuclear factor 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    CT025679
    UniProtKB/TrEMBL
    Q8CJ45

  7. NM_145705.4 → NP_663751.2  TERF1-interacting nuclear factor 2 isoform 3

    See identical proteins and their annotated locations for NP_663751.2

    Status: VALIDATED

    Source sequence(s)
    CT025679
    Consensus CDS
    CCDS27125.1
    UniProtKB/TrEMBL
    Q8CJ45, Q8K1K3
    Related
    ENSMUSP00000007733.7, ENSMUST00000007733.8
    Conserved Domains (2) summary
    cd11741
    Location:236 → 339
    TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
    cl18929
    Location:20 → 153
    TIN2_N; N-terminal domain of TRF-interacting nuclear factor 2; shelterin complex protein of telomeres

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    55912120..55919265 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9QXG9.2 GenPept UniProtKB/Swiss-Prot:Q9QXG9

Gene LinkOut

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