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Protein

TERF1-interacting nuclear factor 2

Gene

TINF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  • telomerase inhibitor activity Source: BHF-UCL
  • 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 telomerase activity Source: BHF-UCL
  • negative regulation of telomere maintenance via telomerase Source: BHF-UCL
  • positive regulation of telomere maintenance Source: BHF-UCL
  • protein localization to chromosome Source: BHF-UCL
  • protein localization to chromosome, telomeric region Source: BHF-UCL
  • telomere assembly Source: BHF-UCL
  • telomere capping Source: Reactome
  • telomere maintenance via telomere lengthening Source: BHF-UCL
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000092330-MONOMER.
ReactomeiR-HSA-1221632. Meiotic synapsis.
R-HSA-171306. Packaging Of Telomere Ends.
R-HSA-2559586. DNA Damage/Telomere Stress Induced Senescence.
SIGNORiQ9BSI4.

Names & Taxonomyi

Protein namesi
Recommended name:
TERF1-interacting nuclear factor 2
Alternative name(s):
TRF1-interacting nuclear protein 2
Gene namesi
Name:TINF2
Synonyms:TIN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:11824. TINF2.

Subcellular locationi

  • Nucleus 1 Publication
  • Chromosometelomere 1 Publication

  • Note: Associated with telomeres.
Isoform 1 :

GO - Cellular componenti

  • chromosome, telomeric region Source: BHF-UCL
  • nuclear chromosome, telomeric region Source: BHF-UCL
  • nuclear matrix Source: UniProtKB-SubCell
  • nuclear telomere cap complex Source: BHF-UCL
  • nucleoplasm Source: Reactome
  • nucleus Source: HPA
  • perinucleolar chromocenter Source: BHF-UCL
  • telosome Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

Pathology & Biotechi

Involvement in diseasei

Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613990
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043914280K → E in DKCA3. 1 PublicationCorresponds to variant rs121918543dbSNPEnsembl.1
Natural variantiVAR_043915282R → H in DKCA3 and DKCA5. 1 PublicationCorresponds to variant rs121918544dbSNPEnsembl.1
Natural variantiVAR_043916282R → S in DKCA3. 1 PublicationCorresponds to variant rs121918545dbSNPEnsembl.1
Dyskeratosis congenita, autosomal dominant, 5 (DKCA5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia, bilateral exudative retinopathy, cerebellar hypoplasia, and growth retardation.
See also OMIM:268130
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043915282R → H in DKCA3 and DKCA5. 1 PublicationCorresponds to variant rs121918544dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi258F → A: Abolishes interaction with TERF1. 1 Publication1
Mutagenesisi262P → A: Does not effect interaction with TERF1. 1 Publication1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita

Organism-specific databases

DisGeNETi26277.
MalaCardsiTINF2.
MIMi268130. phenotype.
613990. phenotype.
OpenTargetsiENSG00000092330.
Orphaneti1775. Dyskeratosis congenita.
3322. Hoyeraal-Hreidarsson syndrome.
3088. Revesz syndrome.
PharmGKBiPA36530.

Polymorphism and mutation databases

BioMutaiTINF2.
DMDMi21542262.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000725412 – 451TERF1-interacting nuclear factor 2Add BLAST450

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei295PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9BSI4.
MaxQBiQ9BSI4.
PaxDbiQ9BSI4.
PeptideAtlasiQ9BSI4.
PRIDEiQ9BSI4.

PTM databases

iPTMnetiQ9BSI4.
PhosphoSitePlusiQ9BSI4.

Expressioni

Tissue specificityi

Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Gene expression databases

BgeeiENSG00000092330.
CleanExiHS_TINF2.
ExpressionAtlasiQ9BSI4. baseline and differential.
GenevisibleiQ9BSI4. HS.

Organism-specific databases

HPAiHPA059061.
HPA069807.

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 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ACDQ96AP08EBI-717399,EBI-717666
ACTBP607092EBI-717399,EBI-353944
AIPL1Q9NZN92EBI-717399,EBI-6557414
ANKMY2Q8IV382EBI-717399,EBI-9393876
ANXA4P095252EBI-717399,EBI-2556852
ANXA5P087582EBI-717399,EBI-296601
ARHGDIAP525652EBI-717399,EBI-712693
ARID3BQ8IVW62EBI-717399,EBI-5458329
BAG3O958172EBI-717399,EBI-747185
CALD1Q056822EBI-717399,EBI-1642116
CCDC43Q96MW12EBI-717399,EBI-9247198
CCDC9Q9Y3X02EBI-717399,EBI-2557532
CLK3P497612EBI-717399,EBI-745579
CPNE3O751312EBI-717399,EBI-718988
DBN1Q166432EBI-717399,EBI-351394
DCXO436022EBI-717399,EBI-8646694
EIF4BP235882EBI-717399,EBI-970310
ENO2P091042EBI-717399,EBI-713154
FAM131BQ86XD52EBI-717399,EBI-11308812
GAPDHP044062EBI-717399,EBI-354056
KCTD17Q8N5Z52EBI-717399,EBI-743960
LGALSLQ3ZCW22EBI-717399,EBI-10241423
LTA4HP099602EBI-717399,EBI-721089
MAP2K3P467342EBI-717399,EBI-602462
NCDNQ9UBB62EBI-717399,EBI-1053490
NOL3O609362EBI-717399,EBI-740992
PAGE2Q7Z2X72EBI-717399,EBI-10256818
PEX5P505422EBI-717399,EBI-597835
PGM1P368712EBI-717399,EBI-2861475
PGM2Q96G032EBI-717399,EBI-4399372
PKMP146182EBI-717399,EBI-353408
POT1Q9NUX53EBI-717399,EBI-752420
PPP1R2P412362EBI-717399,EBI-1056517
PRKCBP057712EBI-717399,EBI-706216
RGS14O435662EBI-717399,EBI-750603
RPSAP088652EBI-717399,EBI-354112
SCRN2Q96FV22EBI-717399,EBI-11306862
SULT1C2O003382EBI-717399,EBI-3913419
TAGLNQ019952EBI-717399,EBI-1054248
TBL1XO609072EBI-717399,EBI-3505105
TERF1P542748EBI-717399,EBI-710997
TERF2Q155544EBI-717418,EBI-706637
TERF2IPQ9NYB03EBI-717418,EBI-750109
TOMM34Q157852EBI-717399,EBI-1054499
TRIM16O953612EBI-717399,EBI-727384
TRIP10Q156422EBI-717399,EBI-739936
TUBBP074372EBI-717399,EBI-350864
TXNDC17Q9BRA22EBI-717399,EBI-1055906
YWHAGP619812EBI-717399,EBI-359832

Protein-protein interaction databases

BioGridi117660. 115 interactors.
DIPiDIP-29413N.
IntActiQ9BSI4. 112 interactors.
MINTiMINT-221357.
STRINGi9606.ENSP00000267415.

Structurei

Secondary structure

1451
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi263 – 265Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3BQOX-ray2.00B257-276[»]
3BU8X-ray2.15C/D258-275[»]
ProteinModelPortaliQ9BSI4.
SMRiQ9BSI4.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BSI4.

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi256 – 278TBMAdd BLAST23
Motifi262 – 268Nuclear localization signalSequence analysis7

Domaini

The TBM domain mediates interaction with TERF1.1 Publication

Phylogenomic databases

eggNOGiENOG410IHMP. Eukaryota.
ENOG410Z499. LUCA.
GeneTreeiENSGT00400000022326.
HOGENOMiHOG000247003.
HOVERGENiHBG057120.
InParanoidiQ9BSI4.
KOiK11112.
OMAiGGHKERP.
OrthoDBiEOG091G0M9F.
PhylomeDBiQ9BSI4.
TreeFamiTF334731.

Family and domain databases

CDDicd11657. TIN2_N. 1 hit.
InterProiIPR029400. TINF2_N.
[Graphical view]
PfamiPF14973. TINF2_N. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q9BSI4-1) [UniParc]FASTAAdd to basket
Also known as: TIN2L

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:451
Mass (Da):50,023
Last modified:June 1, 2001 - v1
Checksum:iE5A7FD11CE523979
GO
Isoform 2 (identifier: Q9BSI4-2) [UniParc]FASTAAdd to basket
Also known as: TIN2S

The sequence of this isoform differs from the canonical sequence as follows:
     355-451: Missing.

Show »
Length:354
Mass (Da):39,444
Checksum:i903B69D7B6A15C01
GO
Isoform 3 (identifier: Q9BSI4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     134-137: ELEQ → VRLV
     138-451: Missing.

Show »
Length:137
Mass (Da):15,434
Checksum:i3BA7286B15EAC870
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti44V → I in BAB14440 (PubMed:14702039).Curated1
Sequence conflicti67Missing in BAB14440 (PubMed:14702039).Curated1
Sequence conflicti302K → N in AAF18439 (PubMed:10581025).Curated1
Sequence conflicti323 – 332ASTGKSKSPC → PSNGKYKGPY in AAF18439 (PubMed:10581025).Curated10

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05142343A → T.Corresponds to variant rs35653076dbSNPEnsembl.1
Natural variantiVAR_051424237G → D.Corresponds to variant rs17102313dbSNPEnsembl.1
Natural variantiVAR_051425241P → S.Corresponds to variant rs17102311dbSNPEnsembl.1
Natural variantiVAR_043914280K → E in DKCA3. 1 PublicationCorresponds to variant rs121918543dbSNPEnsembl.1
Natural variantiVAR_043915282R → H in DKCA3 and DKCA5. 1 PublicationCorresponds to variant rs121918544dbSNPEnsembl.1
Natural variantiVAR_043916282R → S in DKCA3. 1 PublicationCorresponds to variant rs121918545dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_003987134 – 137ELEQ → VRLV in isoform 3. 1 Publication4
Alternative sequenceiVSP_003988138 – 451Missing in isoform 3. 1 PublicationAdd BLAST314
Alternative sequenceiVSP_003989355 – 451Missing in isoform 2. 1 PublicationAdd BLAST97

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.
CCDSiCCDS41936.1. [Q9BSI4-1]
CCDS41937.1. [Q9BSI4-2]
RefSeqiNP_001092744.1. NM_001099274.1. [Q9BSI4-1]
NP_036593.2. NM_012461.2. [Q9BSI4-2]
UniGeneiHs.496191.

Genome annotation databases

EnsembliENST00000267415; ENSP00000267415; ENSG00000092330. [Q9BSI4-1]
ENST00000399423; ENSP00000382350; ENSG00000092330. [Q9BSI4-2]
GeneIDi26277.
KEGGihsa:26277.
UCSCiuc001woa.5. human. [Q9BSI4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS41936.1. [Q9BSI4-1]
CCDS41937.1. [Q9BSI4-2]
RefSeqiNP_001092744.1. NM_001099274.1. [Q9BSI4-1]
NP_036593.2. NM_012461.2. [Q9BSI4-2]
UniGeneiHs.496191.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3BQOX-ray2.00B257-276[»]
3BU8X-ray2.15C/D258-275[»]
ProteinModelPortaliQ9BSI4.
SMRiQ9BSI4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117660. 115 interactors.
DIPiDIP-29413N.
IntActiQ9BSI4. 112 interactors.
MINTiMINT-221357.
STRINGi9606.ENSP00000267415.

PTM databases

iPTMnetiQ9BSI4.
PhosphoSitePlusiQ9BSI4.

Polymorphism and mutation databases

BioMutaiTINF2.
DMDMi21542262.

Proteomic databases

EPDiQ9BSI4.
MaxQBiQ9BSI4.
PaxDbiQ9BSI4.
PeptideAtlasiQ9BSI4.
PRIDEiQ9BSI4.

Protocols and materials databases

DNASUi26277.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267415; ENSP00000267415; ENSG00000092330. [Q9BSI4-1]
ENST00000399423; ENSP00000382350; ENSG00000092330. [Q9BSI4-2]
GeneIDi26277.
KEGGihsa:26277.
UCSCiuc001woa.5. human. [Q9BSI4-1]

Organism-specific databases

CTDi26277.
DisGeNETi26277.
GeneCardsiTINF2.
GeneReviewsiTINF2.
HGNCiHGNC:11824. TINF2.
HPAiHPA059061.
HPA069807.
MalaCardsiTINF2.
MIMi268130. phenotype.
604319. gene.
613990. phenotype.
neXtProtiNX_Q9BSI4.
OpenTargetsiENSG00000092330.
Orphaneti1775. Dyskeratosis congenita.
3322. Hoyeraal-Hreidarsson syndrome.
3088. Revesz syndrome.
PharmGKBiPA36530.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHMP. Eukaryota.
ENOG410Z499. LUCA.
GeneTreeiENSGT00400000022326.
HOGENOMiHOG000247003.
HOVERGENiHBG057120.
InParanoidiQ9BSI4.
KOiK11112.
OMAiGGHKERP.
OrthoDBiEOG091G0M9F.
PhylomeDBiQ9BSI4.
TreeFamiTF334731.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000092330-MONOMER.
ReactomeiR-HSA-1221632. Meiotic synapsis.
R-HSA-171306. Packaging Of Telomere Ends.
R-HSA-2559586. DNA Damage/Telomere Stress Induced Senescence.
SIGNORiQ9BSI4.

Miscellaneous databases

EvolutionaryTraceiQ9BSI4.
GeneWikiiTINF2.
GenomeRNAii26277.
PROiQ9BSI4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000092330.
CleanExiHS_TINF2.
ExpressionAtlasiQ9BSI4. baseline and differential.
GenevisibleiQ9BSI4. HS.

Family and domain databases

CDDicd11657. TIN2_N. 1 hit.
InterProiIPR029400. TINF2_N.
[Graphical view]
PfamiPF14973. TINF2_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTINF2_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 145 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.