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    Tti2 TELO2 interacting protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 234138, updated on 9-May-2024

    Summary

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    Official Symbol
    Tti2provided by MGI
    Official Full Name
    TELO2 interacting protein 2provided by MGI
    Primary source
    MGI:MGI:2384576
    See related
    Ensembl:ENSMUSG00000031577 AllianceGenome:MGI:2384576
    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
    Summary
    Predicted to be part of ASTRA complex. Predicted to be active in centrosome; cytosol; and nucleoplasm. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human TTI2 (TELO2 interacting protein 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 5.3), CNS E14 (RPKM 4.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 A3; 8 18.03 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (31640344..31654731)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (31150316..31164703)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4995 Neighboring gene STARR-positive B cell enhancer ABC_E2861 Neighboring gene ring finger protein 122 Neighboring gene STARR-positive B cell enhancer ABC_E557 Neighboring gene small nucleolar RNA, C/D box 13 Neighboring gene MAK16 homolog Neighboring gene fucosyltransferase 10 Neighboring gene SUMO-conjugating enzyme UBC9 pseudogene Neighboring gene eukaryotic translation initiation factor 3, subunit H pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2. Rao F, et al. Mol Cell, 2014 Apr 10. PMID 24657168, Free PMC Article
    2. Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes. Takai H, et al. Genes Dev, 2010 Sep 15. PMID 20801936, Free PMC Article
    3. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC28346

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    part_of TTT Hsp90 cochaperone complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of TTT Hsp90 cochaperone complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TELO2-interacting 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_001199988.1 → NP_001186917.1  TELO2-interacting protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region and includes a different terminal exon, compared to variant 2. The resulting protein (isoform b) is longer and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC109163, AK084242
      Consensus CDS
      CCDS85525.1
      UniProtKB/TrEMBL
      A0A1B0GSJ1, Q8BNA7
      Related
      ENSMUSP00000147956.2, ENSMUST00000210129.2
      Conserved Domains (1) summary
      pfam10521
      Location:161 → 385
      DUF2454; Protein of unknown function (DUF2454)

    2. NM_144927.3 → NP_659176.2  TELO2-interacting protein 2 isoform a

      See identical proteins and their annotated locations for NP_659176.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the shorter protein (isoform a).
      Source sequence(s)
      AK045392, AK084242, AW120801
      Consensus CDS
      CCDS22221.1
      UniProtKB/Swiss-Prot
      Q3UTH3, Q8BGV4, Q8VE31
      UniProtKB/TrEMBL
      Q8BNA7
      Related
      ENSMUSP00000148056.2, ENSMUST00000209851.2
      Conserved Domains (1) summary
      pfam10521
      Location:161 → 385
      DUF2454; Protein of unknown function (DUF2454)

    RNA

    1. NR_103719.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs at the 3' end compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC109163, AK045392, AK084242, AK139425, AK161965, CJ312549

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      31640344..31654731
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001112729.1: Suppressed sequence

      Description
      NM_001112729.1: This RefSeq was permanently suppressed because the transcript is a nonsense-mediated mRNA decay (NMD) candidate when it uses a supported upstream start codon.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BGV4.1 GenPept UniProtKB/Swiss-Prot:Q8BGV4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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