UniProtKB - Q9BSI4 (TINF2_HUMAN)
TERF1-interacting nuclear factor 2
TINF2
Functioni
GO - Molecular functioni
- telomeric DNA binding Source: UniProtKB
GO - Biological processi
- negative regulation of epithelial cell proliferation Source: BHF-UCL
- negative regulation of protein ADP-ribosylation Source: BHF-UCL
- negative regulation of telomere maintenance via telomerase Source: BHF-UCL
- protein localization to chromosome, telomeric region Source: CACAO
- regulation of telomere maintenance via telomere lengthening Source: BHF-UCL
- telomere assembly Source: BHF-UCL
- telomere capping Source: BHF-UCL
Enzyme and pathway databases
PathwayCommonsi | Q9BSI4 |
Reactomei | R-HSA-110328, Recognition and association of DNA glycosylase with site containing an affected pyrimidine R-HSA-110329, Cleavage of the damaged pyrimidine R-HSA-110330, Recognition and association of DNA glycosylase with site containing an affected purine R-HSA-110331, Cleavage of the damaged purine R-HSA-1221632, Meiotic synapsis R-HSA-171306, Packaging Of Telomere Ends R-HSA-171319, Telomere Extension By Telomerase R-HSA-174411, Polymerase switching on the C-strand of the telomere R-HSA-174414, Processive synthesis on the C-strand of the telomere R-HSA-174417, Telomere C-strand (Lagging Strand) Synthesis R-HSA-174430, Telomere C-strand synthesis initiation R-HSA-174437, Removal of the Flap Intermediate from the C-strand R-HSA-2559586, DNA Damage/Telomere Stress Induced Senescence R-HSA-9670095, Inhibition of DNA recombination at telomere |
SIGNORi | Q9BSI4 |
Protein family/group databases
MoonDBi | Q9BSI4, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: TERF1-interacting nuclear factor 2Alternative name(s): TRF1-interacting nuclear protein 2 |
Gene namesi | Name:TINF2 Synonyms:TIN2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11824, TINF2 |
MIMi | 604319, gene |
neXtProti | NX_Q9BSI4 |
VEuPathDBi | HostDB:ENSG00000092330.15 |
Subcellular locationi
Nucleus
- Nucleus matrix 1 Publication
Nucleus
- nuclear body Source: HPA
- nuclear chromosome, telomeric region Source: BHF-UCL
- nuclear matrix Source: UniProtKB-SubCell
- nuclear telomere cap complex Source: BHF-UCL
- nucleoplasm Source: HPA
- shelterin complex Source: BHF-UCL
Other locations
- chromosome, telomeric region Source: BHF-UCL
- perinucleolar chromocenter Source: BHF-UCL
Keywords - Cellular componenti
Chromosome, Nucleus, TelomerePathology & Biotechi
Involvement in diseasei
Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043914 | 280 | K → E in DKCA3. 1 PublicationCorresponds to variant dbSNP:rs121918543EnsemblClinVar. | 1 | |
Natural variantiVAR_043915 | 282 | R → H in DKCA3 and DKCA5. 1 PublicationCorresponds to variant dbSNP:rs121918544EnsemblClinVar. | 1 | |
Natural variantiVAR_043916 | 282 | R → S in DKCA3. 1 PublicationCorresponds to variant dbSNP:rs121918545EnsemblClinVar. | 1 |
Dyskeratosis congenita, autosomal dominant, 5 (DKCA5)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043915 | 282 | R → H in DKCA3 and DKCA5. 1 PublicationCorresponds to variant dbSNP:rs121918544EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 258 | F → A: Abolishes interaction with TERF1. 1 Publication | 1 | |
Mutagenesisi | 262 | P → A: Does not effect interaction with TERF1. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Dyskeratosis congenitaOrganism-specific databases
DisGeNETi | 26277 |
GeneReviewsi | TINF2 |
MalaCardsi | TINF2 |
MIMi | 268130, phenotype 613990, phenotype |
OpenTargetsi | ENSG00000092330 |
Orphaneti | 1775, Dyskeratosis congenita 3322, Hoyeraal-Hreidarsson syndrome 3088, Revesz syndrome |
PharmGKBi | PA36530 |
Miscellaneous databases
Pharosi | Q9BSI4, Tbio |
Genetic variation databases
BioMutai | TINF2 |
DMDMi | 21542262 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000072541 | 2 – 451 | TERF1-interacting nuclear factor 2Add BLAST | 450 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 295 | PhosphoserineCombined sources | 1 | |
Cross-linki | 302 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 306 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 341 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 353 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9BSI4 |
jPOSTi | Q9BSI4 |
MassIVEi | Q9BSI4 |
MaxQBi | Q9BSI4 |
PaxDbi | Q9BSI4 |
PeptideAtlasi | Q9BSI4 |
PRIDEi | Q9BSI4 |
ProteomicsDBi | 78895 [Q9BSI4-1] 78896 [Q9BSI4-2] 78897 [Q9BSI4-3] |
PTM databases
iPTMneti | Q9BSI4 |
PhosphoSitePlusi | Q9BSI4 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000092330, Expressed in left adrenal gland and 239 other tissues |
ExpressionAtlasi | Q9BSI4, baseline and differential |
Genevisiblei | Q9BSI4, HS |
Organism-specific databases
HPAi | ENSG00000092330, Tissue enriched (parathyroid) |
Interactioni
Subunit structurei
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.
5 PublicationsBinary interactionsi
Q9BSI4
Isoform 3 [Q9BSI4-3]
With | #Exp. | IntAct |
---|---|---|
ACD [Q96AP0] | 5 | EBI-717418,EBI-717666 |
TERF1 [P54274] | 2 | EBI-717418,EBI-710997 |
TERF2 [Q15554] | 4 | EBI-717418,EBI-706637 |
TERF2IP [Q9NYB0] | 3 | EBI-717418,EBI-750109 |
Protein-protein interaction databases
BioGRIDi | 117660, 122 interactors |
ComplexPortali | CPX-152, Shelterin complex |
CORUMi | Q9BSI4 |
DIPi | DIP-29413N |
ELMi | Q9BSI4 |
IntActi | Q9BSI4, 119 interactors |
MINTi | Q9BSI4 |
STRINGi | 9606.ENSP00000267415 |
Miscellaneous databases
RNActi | Q9BSI4, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9BSI4 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9BSI4 |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 256 – 278 | TBMAdd BLAST | 23 | |
Motifi | 262 – 268 | Nuclear localization signalSequence analysis | 7 |
Domaini
Phylogenomic databases
eggNOGi | ENOG502S5UZ, Eukaryota |
GeneTreei | ENSGT00400000022326 |
InParanoidi | Q9BSI4 |
OMAi | LIPTFCE |
OrthoDBi | 1445874at2759 |
PhylomeDBi | Q9BSI4 |
TreeFami | TF334731 |
Family and domain databases
CDDi | cd11657, TIN2_N, 1 hit |
IDEALi | IID00180 |
InterProi | View protein in InterPro IPR039098, TINF2 IPR029400, TINF2_N |
PANTHERi | PTHR15512, PTHR15512, 1 hit |
Pfami | View protein in Pfam PF14973, TINF2_N, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MATPLVAGPA ALRFAAAASW QVVRGRCVEH FPRVLEFLRS LRAVAPGLVR
60 70 80 90 100
YRHHERLCMG LKAKVVVELI LQGRPWAQVL KALNHHFPES GPIVRDPKAT
110 120 130 140 150
KQDLRKILEA QETFYQQVKQ LSEAPVDLAS KLQELEQEYG EPFLAAMEKL
160 170 180 190 200
LFEYLCQLEK ALPTPQAQQL QDVLSWMQPG VSITSSLAWR QYGVDMGWLL
210 220 230 240 250
PECSVTDSVN LAEPMEQNPP QQQRLALHNP LPKAKPGTHL PQGPSSRTHP
260 270 280 290 300
EPLAGRHFNL APLGRRRVQS QWASTRGGHK ERPTVMLFPF RNLGSPTQVI
310 320 330 340 350
SKPESKEEHA IYTADLAMGT RAASTGKSKS PCQTLGGRAL KENPVDLPAT
360 370 380 390 400
EQKENCLDCY MDPLRLSLLP PRARKPVCPP SLCSSVITIG DLVLDSDEEE
410 420 430 440 450
NGQGEGKESL ENYQKTKFDT LIPTLCEYLP PSGHGAIPVS SCDCRDSSRP
L
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB4DFJ1 | B4DFJ1_HUMAN | TERF1-interacting nuclear factor 2 | TINF2 | 416 | Annotation score: | ||
H0YKA6 | H0YKA6_HUMAN | TERF1-interacting nuclear factor 2 | TINF2 | 146 | Annotation score: | ||
H0YL96 | H0YL96_HUMAN | TERF1-interacting nuclear factor 2 | TINF2 | 85 | Annotation score: | ||
H0YLC9 | H0YLC9_HUMAN | TERF1-interacting nuclear factor 2 | TINF2 | 290 | Annotation score: | ||
H0YL20 | H0YL20_HUMAN | TERF1 (TRF1)-interacting nuclear fa... | TINF2 hCG_38254 | 140 | Annotation score: | ||
H0YMN3 | H0YMN3_HUMAN | TERF1-interacting nuclear factor 2 | TINF2 | 71 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 44 | V → I in BAB14440 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 67 | Missing in BAB14440 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 302 | K → N in AAF18439 (PubMed:10581025).Curated | 1 | |
Sequence conflicti | 323 – 332 | ASTGKSKSPC → PSNGKYKGPY in AAF18439 (PubMed:10581025).Curated | 10 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051423 | 43 | A → T. Corresponds to variant dbSNP:rs35653076EnsemblClinVar. | 1 | |
Natural variantiVAR_051424 | 237 | G → D. Corresponds to variant dbSNP:rs17102313EnsemblClinVar. | 1 | |
Natural variantiVAR_051425 | 241 | P → S. Corresponds to variant dbSNP:rs17102311EnsemblClinVar. | 1 | |
Natural variantiVAR_043914 | 280 | K → E in DKCA3. 1 PublicationCorresponds to variant dbSNP:rs121918543EnsemblClinVar. | 1 | |
Natural variantiVAR_043915 | 282 | R → H in DKCA3 and DKCA5. 1 PublicationCorresponds to variant dbSNP:rs121918544EnsemblClinVar. | 1 | |
Natural variantiVAR_043916 | 282 | R → S in DKCA3. 1 PublicationCorresponds to variant dbSNP:rs121918545EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_003987 | 134 – 137 | ELEQ → VRLV in isoform 3. 1 Publication | 4 | |
Alternative sequenceiVSP_003988 | 138 – 451 | Missing in isoform 3. 1 PublicationAdd BLAST | 314 | |
Alternative sequenceiVSP_003989 | 355 – 451 | Missing in isoform 2. 1 PublicationAdd BLAST | 97 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF195512 mRNA Translation: AAF18439.1 AK023166 mRNA Translation: BAB14440.1 BC005030 mRNA Translation: AAH05030.1 BC019343 mRNA Translation: AAH19343.1 EU851975 mRNA Translation: ACF17559.1 |
CCDSi | CCDS41936.1 [Q9BSI4-1] CCDS41937.1 [Q9BSI4-2] |
RefSeqi | NP_001092744.1, NM_001099274.1 [Q9BSI4-1] NP_036593.2, NM_012461.2 [Q9BSI4-2] |
Genome annotation databases
Ensembli | ENST00000267415; ENSP00000267415; ENSG00000092330 [Q9BSI4-1] ENST00000399423; ENSP00000382350; ENSG00000092330 [Q9BSI4-2] ENST00000642983; ENSP00000494089; ENSG00000284915 [Q9BSI4-2] ENST00000646576; ENSP00000495019; ENSG00000284915 [Q9BSI4-1] |
GeneIDi | 26277 |
KEGGi | hsa:26277 |
UCSCi | uc001woa.5, human [Q9BSI4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF195512 mRNA Translation: AAF18439.1 AK023166 mRNA Translation: BAB14440.1 BC005030 mRNA Translation: AAH05030.1 BC019343 mRNA Translation: AAH19343.1 EU851975 mRNA Translation: ACF17559.1 |
CCDSi | CCDS41936.1 [Q9BSI4-1] CCDS41937.1 [Q9BSI4-2] |
RefSeqi | NP_001092744.1, NM_001099274.1 [Q9BSI4-1] NP_036593.2, NM_012461.2 [Q9BSI4-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3BQO | X-ray | 2.00 | B | 257-276 | [»] | |
3BU8 | X-ray | 2.15 | C/D | 258-275 | [»] | |
5XYF | X-ray | 2.20 | A | 2-202 | [»] | |
SMRi | Q9BSI4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117660, 122 interactors |
ComplexPortali | CPX-152, Shelterin complex |
CORUMi | Q9BSI4 |
DIPi | DIP-29413N |
ELMi | Q9BSI4 |
IntActi | Q9BSI4, 119 interactors |
MINTi | Q9BSI4 |
STRINGi | 9606.ENSP00000267415 |
Protein family/group databases
MoonDBi | Q9BSI4, Predicted |
PTM databases
iPTMneti | Q9BSI4 |
PhosphoSitePlusi | Q9BSI4 |
Genetic variation databases
BioMutai | TINF2 |
DMDMi | 21542262 |
Proteomic databases
EPDi | Q9BSI4 |
jPOSTi | Q9BSI4 |
MassIVEi | Q9BSI4 |
MaxQBi | Q9BSI4 |
PaxDbi | Q9BSI4 |
PeptideAtlasi | Q9BSI4 |
PRIDEi | Q9BSI4 |
ProteomicsDBi | 78895 [Q9BSI4-1] 78896 [Q9BSI4-2] 78897 [Q9BSI4-3] |
Protocols and materials databases
Antibodypediai | 22798, 223 antibodies |
DNASUi | 26277 |
Genome annotation databases
Ensembli | ENST00000267415; ENSP00000267415; ENSG00000092330 [Q9BSI4-1] ENST00000399423; ENSP00000382350; ENSG00000092330 [Q9BSI4-2] ENST00000642983; ENSP00000494089; ENSG00000284915 [Q9BSI4-2] ENST00000646576; ENSP00000495019; ENSG00000284915 [Q9BSI4-1] |
GeneIDi | 26277 |
KEGGi | hsa:26277 |
UCSCi | uc001woa.5, human [Q9BSI4-1] |
Organism-specific databases
CTDi | 26277 |
DisGeNETi | 26277 |
GeneCardsi | TINF2 |
GeneReviewsi | TINF2 |
HGNCi | HGNC:11824, TINF2 |
HPAi | ENSG00000092330, Tissue enriched (parathyroid) |
MalaCardsi | TINF2 |
MIMi | 268130, phenotype 604319, gene 613990, phenotype |
neXtProti | NX_Q9BSI4 |
OpenTargetsi | ENSG00000092330 |
Orphaneti | 1775, Dyskeratosis congenita 3322, Hoyeraal-Hreidarsson syndrome 3088, Revesz syndrome |
PharmGKBi | PA36530 |
VEuPathDBi | HostDB:ENSG00000092330.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S5UZ, Eukaryota |
GeneTreei | ENSGT00400000022326 |
InParanoidi | Q9BSI4 |
OMAi | LIPTFCE |
OrthoDBi | 1445874at2759 |
PhylomeDBi | Q9BSI4 |
TreeFami | TF334731 |
Enzyme and pathway databases
PathwayCommonsi | Q9BSI4 |
Reactomei | R-HSA-110328, Recognition and association of DNA glycosylase with site containing an affected pyrimidine R-HSA-110329, Cleavage of the damaged pyrimidine R-HSA-110330, Recognition and association of DNA glycosylase with site containing an affected purine R-HSA-110331, Cleavage of the damaged purine R-HSA-1221632, Meiotic synapsis R-HSA-171306, Packaging Of Telomere Ends R-HSA-171319, Telomere Extension By Telomerase R-HSA-174411, Polymerase switching on the C-strand of the telomere R-HSA-174414, Processive synthesis on the C-strand of the telomere R-HSA-174417, Telomere C-strand (Lagging Strand) Synthesis R-HSA-174430, Telomere C-strand synthesis initiation R-HSA-174437, Removal of the Flap Intermediate from the C-strand R-HSA-2559586, DNA Damage/Telomere Stress Induced Senescence R-HSA-9670095, Inhibition of DNA recombination at telomere |
SIGNORi | Q9BSI4 |
Miscellaneous databases
BioGRID-ORCSi | 26277, 672 hits in 884 CRISPR screens |
ChiTaRSi | TINF2, human |
EvolutionaryTracei | Q9BSI4 |
GeneWikii | TINF2 |
GenomeRNAii | 26277 |
Pharosi | Q9BSI4, Tbio |
PROi | PR:Q9BSI4 |
RNActi | Q9BSI4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000092330, Expressed in left adrenal gland and 239 other tissues |
ExpressionAtlasi | Q9BSI4, baseline and differential |
Genevisiblei | Q9BSI4, HS |
Family and domain databases
CDDi | cd11657, TIN2_N, 1 hit |
IDEALi | IID00180 |
InterProi | View protein in InterPro IPR039098, TINF2 IPR029400, TINF2_N |
PANTHERi | PTHR15512, PTHR15512, 1 hit |
Pfami | View protein in Pfam PF14973, TINF2_N, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TINF2_HUMAN | |
Accessioni | Q9BSI4Primary (citable) accession number: Q9BSI4 Secondary accession number(s): B3W5Q7, Q9H904, Q9UHC2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 20, 2002 |
Last sequence update: | June 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 173 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references