Human Gene TINF2 (ENST00000267415.12) from GENCODE V44
  Description: Homo sapiens TERF1 interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA. (from RefSeq NM_001099274)
RefSeq Summary (NM_012461): 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].
Gencode Transcript: ENST00000267415.12
Gencode Gene: ENSG00000092330.19
Transcript (Including UTRs)
   Position: hg38 chr14:24,239,643-24,242,623 Size: 2,981 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chr14:24,239,797-24,242,332 Size: 2,536 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:24,239,643-24,242,623)mRNA (may differ from genome)Protein (451 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TINF2_HUMAN
DESCRIPTION: RecName: Full=TERF1-interacting nuclear factor 2; AltName: Full=TRF1-interacting nuclear protein 2;
FUNCTION: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.
SUBUNIT: Monomer. Found in a complex with POT1; TERF1 and TNKS1. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Interacts with TERF1, TERF2 and ACD.
INTERACTION: Q96AP0:ACD; NbExp=6; IntAct=EBI-717418, EBI-717666; P54274:TERF1; NbExp=2; IntAct=EBI-717418, EBI-710997; Q15554:TERF2; NbExp=4; IntAct=EBI-717418, EBI-706637; Q9NYB0:TERF2IP; NbExp=3; IntAct=EBI-717418, EBI-750109;
SUBCELLULAR LOCATION: Nucleus. Chromosome, telomere. Note=Associated with telomeres.
SUBCELLULAR LOCATION: Isoform 1: Nucleus matrix.
TISSUE SPECIFICITY: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
DOMAIN: The TBM domain mediates interaction with TERF1.
DISEASE: Defects in TINF2 are a cause of dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990]. A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
DISEASE: Defects in TINF2 are a cause of retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130]; also known as Revesz syndrome. ERBMF is characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine hair, cerebellar hypoplasia, and growth retardation.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TINF2
Diseases sorted by gene-association score: revesz syndrome* (1650), dyskeratosis congenita, autosomal dominant 3* (1230), dyskeratosis congenita autosomal dominant* (304), dyskeratosis congenita, autosomal dominant 1* (283), aplastic anemia* (164), dyskeratosis congenita* (155), tinf2-related dyskeratosis congenita* (100), oral leukoplakia (9), pulmonary fibrosis (8), retinal telangiectasia (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 45.33 RPKM in Adrenal Gland
Total median expression: 1234.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -128.10291-0.440 Picture PostScript Text
3' UTR -28.40154-0.184 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Protein Data Bank (PDB) 3-D Structure
MuPIT help
3BQO - X-ray 3BU8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9BSI4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042162 telomeric DNA binding
GO:0003677 DNA binding

Biological Process:
GO:0010836 negative regulation of protein ADP-ribosylation
GO:0016233 telomere capping
GO:0032202 telomere assembly
GO:0032211 negative regulation of telomere maintenance via telomerase
GO:0050680 negative regulation of epithelial cell proliferation
GO:0070198 protein localization to chromosome, telomeric region
GO:1904356 regulation of telomere maintenance via telomere lengthening

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0000783 nuclear telomere cap complex
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0010370 perinucleolar chromocenter
GO:0016363 nuclear matrix
GO:0016604 nuclear body
GO:0070187 telosome


-  Descriptions from all associated GenBank mRNAs
  KJ893555 - Synthetic construct Homo sapiens clone ccsbBroadEn_02949 TINF2 gene, encodes complete protein.
KR710080 - Synthetic construct Homo sapiens clone CCSBHm_00009339 TINF2 (TINF2) mRNA, encodes complete protein.
KR710081 - Synthetic construct Homo sapiens clone CCSBHm_00009340 TINF2 (TINF2) mRNA, encodes complete protein.
KR710082 - Synthetic construct Homo sapiens clone CCSBHm_00009343 TINF2 (TINF2) mRNA, encodes complete protein.
KR710083 - Synthetic construct Homo sapiens clone CCSBHm_00009351 TINF2 (TINF2) mRNA, encodes complete protein.
KR712227 - Synthetic construct Homo sapiens clone CCSBHm_00900184 TINF2 (TINF2) mRNA, encodes complete protein.
LF210087 - JP 2014500723-A/17590: Polycomb-Associated Non-Coding RNAs.
MA445664 - JP 2018138019-A/17590: Polycomb-Associated Non-Coding RNAs.
LF210089 - JP 2014500723-A/17592: Polycomb-Associated Non-Coding RNAs.
MA445666 - JP 2018138019-A/17592: Polycomb-Associated Non-Coding RNAs.
LF334561 - JP 2014500723-A/142064: Polycomb-Associated Non-Coding RNAs.
MA570138 - JP 2018138019-A/142064: Polycomb-Associated Non-Coding RNAs.
BC000710 - Homo sapiens mRNA similar to TERF1 (TRF1)-interacting nuclear factor 2 (cDNA clone IMAGE:3504095).
BC005030 - Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2, mRNA (cDNA clone MGC:12628 IMAGE:3690254), complete cds.
AK225379 - Homo sapiens mRNA for TERF1-interacting nuclear factor 2 variant, clone: HEP18496.
BC019343 - Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2, mRNA (cDNA clone MGC:12995 IMAGE:3505009), complete cds.
AF195512 - Homo sapiens TIN2 (TINF2) mRNA, complete cds.
AK294119 - Homo sapiens cDNA FLJ53728 complete cds, highly similar to TERF1-interacting nuclear factor 2.
AK023166 - Homo sapiens cDNA FLJ13104 fis, clone NT2RP3002343.
BX161478 - human full-length cDNA clone CS0DI083YG01 of Placenta of Homo sapiens (human).
JD422643 - Sequence 403667 from Patent EP1572962.
JD325545 - Sequence 306569 from Patent EP1572962.
JD527442 - Sequence 508466 from Patent EP1572962.
JD259687 - Sequence 240711 from Patent EP1572962.
JD152885 - Sequence 133909 from Patent EP1572962.
EU851975 - Homo sapiens (TRF1)-interacting nuclear factor 2 variant 1 (TINF2) mRNA, partial cds, alternatively spliced.
DQ893390 - Synthetic construct clone IMAGE:100006020; FLH199463.01X; RZPDo839B0782D TERF1 (TRF1)-interacting nuclear factor 2 (TINF2) gene, encodes complete protein.
DQ896711 - Synthetic construct Homo sapiens clone IMAGE:100011171; FLH199369.01L; RZPDo839B0781D TERF1 (TRF1)-interacting nuclear factor 2 (TINF2) gene, encodes complete protein.
JD260526 - Sequence 241550 from Patent EP1572962.
JD514765 - Sequence 495789 from Patent EP1572962.
JD537011 - Sequence 518035 from Patent EP1572962.
AK315084 - Homo sapiens cDNA, FLJ96040.
CU678872 - Synthetic construct Homo sapiens gateway clone IMAGE:100019464 5' read TINF2 mRNA.
LF334563 - JP 2014500723-A/142066: Polycomb-Associated Non-Coding RNAs.
MA570140 - JP 2018138019-A/142066: Polycomb-Associated Non-Coding RNAs.
JD457959 - Sequence 438983 from Patent EP1572962.
JD514690 - Sequence 495714 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BSI4 (Reactome details) participates in the following event(s):

R-HSA-176700 Incorporation Of Extended And Processed Telomere End Into Higher Order T-Loop And Associated Protein Structure
R-HSA-181450 Incorporation Of Extended And Processed Telomere End Into Associated Protein Structure
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence
R-HSA-1221632 Meiotic synapsis
R-HSA-157579 Telomere Maintenance
R-HSA-2559583 Cellular Senescence
R-HSA-1500620 Meiosis
R-HSA-73886 Chromosome Maintenance
R-HSA-2262752 Cellular responses to stress
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000267415.1, ENST00000267415.10, ENST00000267415.11, ENST00000267415.2, ENST00000267415.3, ENST00000267415.4, ENST00000267415.5, ENST00000267415.6, ENST00000267415.7, ENST00000267415.8, ENST00000267415.9, NM_001099274, Q9BSI4, Q9H904, Q9UHC2, TIN2, TINF2_HUMAN, uc001woa.1, uc001woa.2, uc001woa.3, uc001woa.4, uc001woa.5, uc001woa.6
UCSC ID: ENST00000267415.12
RefSeq Accession: NM_012461
Protein: Q9BSI4 (aka TINF2_HUMAN or TIN2_HUMAN)
CCDS: CCDS41936.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TINF2:
dkc (Dyskeratosis Congenita and Related Telomere Biology Disorders)
pf (Pulmonary Fibrosis Predisposition Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.