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

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; AllianceGenome:HGNC:26262
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: mouse all
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Genomic context

Location:: 8p12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (33498722..33513135, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (33770062..33784485, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (33356240..33370653, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structure of the Human TELO2-TTI1-TTI2 Complex.
Title: Structure of the Human TELO2-TTI1-TTI2 Complex.
The findings emphasises the role of the TTI2 gene in the etiology of intellectual disability.
Title: Mutation in TTI2 reveals a role for triple T complex in human brain development.
TTI1 and TTI2 protect cells from spontaneous DNA damage, and are required for the establishment of the intra-S and G2/M checkpoint.
Title: A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MedGen: C3809853 OMIM: 615541 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G29147 (e-PCR)
- UniSTS:82791

SHGC-32777 (e-PCR)
- UniSTS:5367

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in positive regulation of DNA damage checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in protein stabilization	NAS Non-traceable Author Statement more info	PubMed

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	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: TELO2-interacting protein 2

Names: Tel2 interacting protein 2 homolog

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.