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    TINF2 TERF1 interacting nuclear factor 2 [ Homo sapiens (human) ]

    Gene ID: 26277, updated on 28-Aug-2016
    Official Symbol
    TINF2provided by HGNC
    Official Full Name
    TERF1 interacting nuclear factor 2provided by HGNC
    Primary source
    HGNC:HGNC:11824
    See related
    Ensembl:ENSG00000092330 HPRD:16056; MIM:604319; Vega:OTTHUMG00000171849
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TIN2; DKCA3
    Summary
    This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
    Orthologs
    Location:
    14q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (24239641..24242674, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24703454..24712233, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NEDD8-MDP1 readthrough Neighboring gene neural precursor cell expressed, developmentally down-regulated 8 Neighboring gene guanosine monophosphate reductase 2 Neighboring gene transglutaminase 1 Neighboring gene uncharacterized LOC102725044 Neighboring gene Rab geranylgeranyltransferase alpha subunit

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cellular Senescence, organism-specific biosystem (from REACTOME)
      Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
      DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic synapsis, organism-specific biosystem (from REACTOME)
      Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
    • Packaging Of Telomere Ends, organism-specific biosystem (from REACTOME)
      Packaging Of Telomere Ends, organism-specific biosystemMultiple steps, including C-strand resection, telomerase-mediated elongation, and C-strand synthesis are involved in processing and maintaining the telomere. Though this module posits a linear trans...
    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
      Regulation of Telomerase
    • Shelterin complex, organism-specific biosystem (from KEGG)
      Shelterin complex, organism-specific biosystemStructural complex; Genetic information processing; Replication system
    • Shelterin complex, conserved biosystem (from KEGG)
      Shelterin complex, conserved biosystemStructural complex; Genetic information processing; Replication system
    • Telomere Maintenance, organism-specific biosystem (from REACTOME)
      Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    telomerase inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear telomere cap complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    perinucleolar chromocenter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    TERF1-interacting nuclear factor 2
    Names
    TERF1 (TRF1)-interacting nuclear factor 2
    TRF1-interacting nuclear protein 2

    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.

    Genomic

    1. NG_016650.1 RefSeqGene

      Range
      5001..8032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001099274.1NP_001092744.1  TERF1-interacting nuclear factor 2 isoform 1

      See identical proteins and their annotated locations for NP_001092744.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1), also known as TIN2L.
      Source sequence(s)
      BC019343, DA053760
      Consensus CDS
      CCDS41936.1
      UniProtKB/Swiss-Prot
      Q9BSI4
      Related
      ENSP00000267415, OTTHUMP00000246957, ENST00000267415, OTTHUMT00000415406
      Conserved Domains (2) summary
      cd11741
      Location:249353
      TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
      pfam14973
      Location:20166
      TINF2_N; TERF1-interacting nuclear factor 2 N-terminus
    2. NM_012461.2NP_036593.2  TERF1-interacting nuclear factor 2 isoform 2

      See identical proteins and their annotated locations for NP_036593.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains additional segments at its 3' end, which results in an early stop codon and a unique 3' UTR, compared to variant 1. It encodes isoform 2, also known as TIN2S, which has a shorter C-terminus when compared to isoform 1.
      Source sequence(s)
      AK225379, BM549897, DA053760
      Consensus CDS
      CCDS41937.1
      UniProtKB/Swiss-Prot
      Q9BSI4
      Related
      ENSP00000382350, OTTHUMP00000246958, ENST00000399423, OTTHUMT00000415407
      Conserved Domains (2) summary
      cd11741
      Location:249353
      TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
      pfam14973
      Location:20166
      TINF2_N; TERF1-interacting nuclear factor 2 N-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      24239641..24242674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536642.2XP_011534944.1  

      Conserved Domains (1) summary
      cd11657
      Location:20171
      TIN2_N; N-terminal domain of TRF-interacting nuclear factor 2; shelterin complex protein of telomeres
    2. XM_017021216.1XP_016876705.1  

    3. XM_017021217.1XP_016876706.1  

    4. XM_005267529.3XP_005267586.1  

      See identical proteins and their annotated locations for XP_005267586.1

      UniProtKB/TrEMBL
      B4DFJ1
      Conserved Domains (2) summary
      cd11741
      Location:214318
      TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
      cl18929
      Location:20131
      TIN2_N; N-terminal domain of TRF-interacting nuclear factor 2; shelterin complex protein of telomeres

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      24707472..24710503 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)