Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tinf2provided by MGI
Official Full Name: Terf1 (TRF1)-interacting nuclear factor 2provided by MGI
Primary source: MGI:MGI:107246
See related: Ensembl:ENSMUSG00000007589 AllianceGenome:MGI:107246
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
Also known as: Tin2; D14Wsu146e
Summary: Enables telomeric DNA binding activity. Acts upstream of or within negative regulation of telomere maintenance. Located in chromosome, telomeric region. Is expressed in several structures, including brain ventricular layer; olfactory epithelium; submandibular gland primordium; thymus primordium; and vibrissa. Used to study dyskeratosis congenita. Human ortholog(s) of this gene implicated in Revesz syndrome and autosomal dominant dyskeratosis congenita 3. Orthologous to human TINF2 (TERF1 interacting nuclear factor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 11.0), placenta adult (RPKM 8.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C3; 14 28.19 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (55912120..55919265, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (55676208..55682159, complement)

Chromosome 14 - NC_000080.7 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: 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?

TIN2 is an architectural protein that facilitates TRF2-mediated trans- and cis-interactions on telomeric DNA.
Title: TIN2 is an architectural protein that facilitates TRF2-mediated trans- and cis-interactions on telomeric DNA.
The TIN2 plays an important role in maintaining the stable shelterin complex required for proper telomere end protection.
Title: Structural and functional analyses of the mammalian TIN2-TPP1-TRF2 telomeric complex.
Gene dosage reductions of Trf1 and/or Tin2 induce telomere DNA damage and lymphoma formation in aging mice.
Title: Gene dosage reductions of Trf1 and/or Tin2 induce telomere DNA damage and lymphoma formation in aging mice.
demonstrated that cells expressing TIN2DeltaTPP1 instead of wild-type TIN2 phenocopy the POT1a,b knockout setting without showing additional phenotypes
Title: Binding of TPP1 protein to TIN2 protein is required for POT1a,b protein-mediated telomere protection.
shelterin protein TIN2 can protect chromosome ends as a TRF2-tethered TIN2/TPP1/POT1 complex that lacks a physical connection to TRF1
Title: TRF2-tethered TIN2 can mediate telomere protection by TPP1/POT1.
telomere shortening was accelerated in TIN2(+/DC) mTR(-/-) mice and MEFs compared with TIN2(+/+) mTR(-/-) controls, establishing that the TIN2(DC) telomere maintenance defect was not solely due to diminished telomerase action
Title: A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.
Telomere protection by TPP1/POT1 requires tethering to TIN2.
Title: Telomere protection by TPP1/POT1 requires tethering to TIN2.
Mouse gene deletion experiments revealed DNA-damage-response pathways that threaten chromosome ends and how the components of the telomeric shelterin complex prevent activation of these pathways.[Shelterin]
Title: How shelterin solves the telomere end-protection problem.
TIN2 has a role independent of telomere length regulation that is essential for embryonic development and cell viability
Title: Telomere-associated protein TIN2 is essential for early embryonic development through a telomerase-independent pathway.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1) 1 citation
Targeted (4) 1 citation

General gene information

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Markers

AA959850 (e-PCR)
- UniSTS:160391

D14Wsu146e (e-PCR), detects polymorphism
- UniSTS:141999

AW552114 (e-PCR)
- UniSTS:180666

RH124661 (e-PCR)
- UniSTS:161483

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables telomeric DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein ADP-ribosylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of telomere maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization to chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
involved_in regulation of telomere maintenance via telomere lengthening	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of telomere maintenance via telomere lengthening	ISO Inferred from Sequence Orthology more info
involved_in telomere assembly	ISO Inferred from Sequence Orthology more info
involved_in telomere capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere capping	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
part_of nuclear telomere cap complex	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinucleolar chromocenter	ISO Inferred from Sequence Orthology more info
part_of shelterin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of shelterin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: TERF1-interacting nuclear factor 2

Names: TRF1-interacting nuclear factor 2; TRF1-interacting nuclear 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_001404599.1 → NP_001391528.1 TERF1-interacting nuclear factor 2 isoform 1

Status: VALIDATED

Source sequence(s)

CT025679
NM_001404600.1 → NP_001391529.1 TERF1-interacting nuclear factor 2 isoform 2

Status: VALIDATED

Source sequence(s)

CT025679

UniProtKB/TrEMBL

A0A2I3BRL3

Related

ENSMUSP00000154628.2, ENSMUST00000227842.2
NM_001404601.1 → NP_001391530.1 TERF1-interacting nuclear factor 2 isoform 4

Status: VALIDATED

Source sequence(s)

CT025679
NM_001404602.1 → NP_001391531.1 TERF1-interacting nuclear factor 2 isoform 5

Status: VALIDATED

Source sequence(s)

CT025679
NM_001404603.1 → NP_001391532.1 TERF1-interacting nuclear factor 2 isoform 6

Status: VALIDATED

Source sequence(s)

CT025679
NM_001404604.1 → NP_001391533.1 TERF1-interacting nuclear factor 2 isoform 7

Status: VALIDATED

Source sequence(s)

CT025679
NM_145705.4 → NP_663751.2 TERF1-interacting nuclear factor 2 isoform 3

See identical proteins and their annotated locations for NP_663751.2

Status: VALIDATED

Source sequence(s)

CT025679

Consensus CDS

CCDS27125.1

UniProtKB/TrEMBL

Q8CJ45, Q8K1K3

Related

ENSMUSP00000007733.7, ENSMUST00000007733.8

Conserved Domains (2) summary

cd11741
Location:236 → 339

TIN2_TBM; TRF-binding motif region of TRF-Interacting Nuclear factor 2

cl18929
Location:20 → 153

TIN2_N; N-terminal domain of TRF-interacting nuclear factor 2; shelterin complex protein of telomeres