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

Gene ID: 80185, updated on 24-Nov-2020

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
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (33498722..33513135, 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
    5051..19721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001102401.4NP_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
    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_001265581.2NP_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
    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_001330505.3NP_001317434.1  TELO2-interacting protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC091144
    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_025115.5NP_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
    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 Updated Annotation Release 109.20201120

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
    33498722..33513135 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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