Homo sapiens Gene: TINF2
Summary
InnateDB Gene IDBG-3746.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TINF2
Gene Name TERF1 (TRF1)-interacting nuclear factor 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000092330
Encoded Proteins
TERF1 (TRF1)-interacting nuclear factor 2
TERF1 (TRF1)-interacting nuclear factor 2
TERF1 (TRF1)-interacting nuclear factor 2
TERF1 (TRF1)-interacting nuclear factor 2
TERF1 (TRF1)-interacting nuclear factor 2
TERF1 (TRF1)-interacting nuclear factor 2
TERF1 (TRF1)-interacting nuclear factor 2
TERF1 (TRF1)-interacting nuclear factor 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:24239643-24242674
Strand Reverse strand
Band q12
Transcripts
ENST00000267415 ENSP00000267415
ENST00000399423 ENSP00000382350
ENST00000558703
ENST00000560019 ENSP00000453113
ENST00000559969 ENSP00000452800
ENST00000558566 ENSP00000453025
ENST00000557915
ENST00000559019 ENSP00000453675
ENST00000559549
ENST00000558476 ENSP00000452724
ENST00000559147
ENST00000557830
ENST00000557921 ENSP00000453157
ENST00000558510
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 107 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 109 [view]
Protein-Protein 109 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042162 telomeric DNA binding
Biological Process
GO:0000723 telomere maintenance
GO:0010833 telomere maintenance via telomere lengthening
GO:0010836 negative regulation of protein ADP-ribosylation
GO:0032202 telomere assembly
GO:0032205 negative regulation of telomere maintenance
GO:0032206 positive regulation of telomere maintenance
GO:0032211 negative regulation of telomere maintenance via telomerase
GO:0034502 protein localization to chromosome
GO:0050680 negative regulation of epithelial cell proliferation
GO:0070198 protein localization to chromosome, telomeric region
Cellular Component
GO:0000781 chromosome, telomeric region
GO:0000783 nuclear telomere cap complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0010370 perinucleolar chromocenter
GO:0016363 nuclear matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Cellular responses to stress pathway
Packaging Of Telomere Ends pathway
Meiotic synapsis pathway
Chromosome Maintenance pathway
Telomere Maintenance pathway
Cell Cycle pathway
DNA Damage/Telomere Stress Induced Senescence pathway
Cellular Senescence pathway
Meiosis pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Regulation of Telomerase
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.496191
RefSeq NM_001099274 NM_012461
HUGO
OMIM
CCDS CCDS41936 CCDS41937
HPRD 16056
IMGT
EMBL
GenPept
RNA Seq Atlas