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    TTI2 TELO2 interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 80185, updated on 15-Jun-2019

    Summary

    Official Symbol
    TTI2provided by HGNC
    Official Full Name
    TELO2 interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:26262
    See related
    Ensembl:ENSG00000129696 MIM:614426
    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
    MRT39; C8orf41
    Summary
    This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in testis (RPKM 6.8), lymph node (RPKM 5.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See TTI2 in Genome Data Viewer
    Location:
    8p12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (33498465..33513192, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (33356027..33370703, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene fucosyltransferase 10 Neighboring gene RNA, U6 small nuclear 528, pseudogene Neighboring gene RNA binding motif protein 4 pseudogene Neighboring gene MAK16 homolog Neighboring gene thymosin beta 4 X-linked pseudogene Neighboring gene small nucleolar RNA, C/D box 13

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ23263

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    ASTRA complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    TELO2-interacting protein 2
    Names
    Tel2 interacting protein 2 homolog

    NCBI Reference Sequences (RefSeq)

    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_033257.1 RefSeqGene

      Range
      5001..19677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001102401.3NP_001095871.1  TELO2-interacting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001095871.1

      Status: REVIEWED

      Source sequence(s)
      AC091144, BC066935, DB047280
      Consensus CDS
      CCDS6090.1
      UniProtKB/Swiss-Prot
      Q6NXR4
      Related
      ENSP00000411169.2, ENST00000431156.6
      Conserved Domains (1) summary
      pfam10521
      Location:219384
      Tti2; Tti2 family
    2. NM_001265581.1NP_001252510.1  TELO2-interacting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001252510.1

      Status: REVIEWED

      Source sequence(s)
      AC091144, BX648410, DB047280
      Consensus CDS
      CCDS6090.1
      UniProtKB/Swiss-Prot
      Q6NXR4
      Related
      ENSP00000478396.1, ENST00000613904.1
      Conserved Domains (1) summary
      pfam10521
      Location:219384
      Tti2; Tti2 family
    3. NM_001330505.2NP_001317434.1  TELO2-interacting protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC091144, BM550924, DB099592
      Consensus CDS
      CCDS83276.1
      UniProtKB/TrEMBL
      E5RIH5
      Related
      ENSP00000428401.1, ENST00000520636.5
      Conserved Domains (1) summary
      pfam10521
      Location:155353
      DUF2454; Protein of unknown function (DUF2454)
    4. NM_025115.4NP_079391.2  TELO2-interacting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_079391.2

      Status: REVIEWED

      Source sequence(s)
      AC091144, AK026916
      Consensus CDS
      CCDS6090.1
      UniProtKB/Swiss-Prot
      Q6NXR4
      Related
      ENSP00000353971.5, ENST00000360742.9
      Conserved Domains (1) summary
      pfam10521
      Location:219384
      Tti2; Tti2 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      33498465..33513185 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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