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

    Gene ID: 26277, updated on 8-Jul-2021

    Summary

    Official Symbol
    TINF2provided by HGNC
    Official Full Name
    TERF1 interacting nuclear factor 2provided by HGNC
    Primary source
    HGNC:HGNC:11824
    See related
    Ensembl:ENSG00000092330 MIM:604319
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 21.4), adrenal (RPKM 21.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See TINF2 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24239640..24242674, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24708846..24711880, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NEDD8-MDP1 readthrough Neighboring gene NEDD8 ubiquitin like modifier Neighboring gene Sharpr-MPRA regulatory region 3923 Neighboring gene guanosine monophosphate reductase 2 Neighboring gene transglutaminase 1 Neighboring gene TGM1 promoter region Neighboring gene uncharacterized LOC102725044 Neighboring gene Rab geranylgeranyltransferase subunit alpha

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromosome, telomeric region HDA PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    part_of nuclear telomere cap complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in perinucleolar chromocenter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of shelterin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of shelterin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of shelterin complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    TERF1-interacting nuclear factor 2
    Names
    TERF1 (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.

    Genomic

    1. NG_016650.1 RefSeqGene

      Range
      5001..8035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_342

    mRNA and Protein(s)

    1. NM_001099274.3NP_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 longest isoform (1), also known as TIN2L.
      Source sequence(s)
      BC019343
      Consensus CDS
      CCDS41936.1
      UniProtKB/Swiss-Prot
      Q9BSI4
      Related
      ENSP00000267415.7, ENST00000267415.12
      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_001363668.2NP_001350597.1  TERF1-interacting nuclear factor 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK294119, AL096870
      Consensus CDS
      CCDS86378.1
      Related
      ENSP00000494065.1, ENST00000646753.1
      Conserved Domains (2) summary
      cd11741
      Location:214318
      TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2
      pfam14973
      Location:20131
      TINF2_N; TERF1-interacting nuclear factor 2 N-terminus
    3. NM_012461.3NP_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, AL096870, BM549897, DA053760
      Consensus CDS
      CCDS41937.1
      UniProtKB/Swiss-Prot
      Q9BSI4
      Related
      ENSP00000382350.4, ENST00000399423.8
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      24239640..24242674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536642.2XP_011534944.1  TERF1-interacting nuclear factor 2 isoform X3

      Conserved Domains (1) summary
      pfam14973
      Location:20166
      TINF2_N; TERF1-interacting nuclear factor 2 N-terminus
    2. XM_017021216.2XP_016876705.1  TERF1-interacting nuclear factor 2 isoform X2

    3. XM_017021217.1XP_016876706.1  TERF1-interacting nuclear factor 2 isoform X2

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p13 PATCHES

      Range
      540618..543652 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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