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

Summary

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

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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

AI314911 (e-PCR)
- UniSTS:159750

NoName (e-PCR)
- UniSTS:235862

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)

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)
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

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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

31640344..31654731

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.