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UniProtKB - Q9BSI4 (TINF2_HUMAN)

Entry version 174 (07 Apr 2021)
Sequence version 1 (01 Jun 2001)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • telomeric DNA binding Source: UniProtKB
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BSI4

Reactome - a knowledgebase of biological pathways and processes

More...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

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9BSI4

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		Q9BSI4, Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
TERF1-interacting nuclear factor 2
Alternative name(s):
TRF1-interacting nuclear protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TINF2
Synonyms:TIN2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11824, TINF2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604319, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BSI4

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000092330.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)1 Publication
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_043914280K → E in DKCA3. 1 PublicationCorresponds to variant dbSNP:rs121918543EnsemblClinVar.1
Natural variantiVAR_043915282R → H in DKCA3 and DKCA5. 1 PublicationCorresponds to variant dbSNP:rs121918544EnsemblClinVar.1
Natural variantiVAR_043916282R → S in DKCA3. 1 PublicationCorresponds to variant dbSNP:rs121918545EnsemblClinVar.1
Dyskeratosis congenita, autosomal dominant, 5 (DKCA5)1 Publication
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043915282R → H in DKCA3 and DKCA5. 1 PublicationCorresponds to variant dbSNP:rs121918544EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi258F → A: Abolishes interaction with TERF1. 1 Publication1
Mutagenesisi262P → A: Does not effect interaction with TERF1. 1 Publication1

Keywords - Diseasei

Disease variant, Dyskeratosis congenita

Organism-specific databases

DisGeNET

More...DisGeNETi		26277

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		TINF2

MalaCards human disease database

More...MalaCardsi		TINF2
MIMi268130, phenotype
613990, phenotype

Open Targets

More...OpenTargetsi		ENSG00000092330

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		1775, Dyskeratosis congenita
3322, Hoyeraal-Hreidarsson syndrome
3088, Revesz syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36530

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BSI4, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TINF2

Domain mapping of disease mutations (DMDM)

More...DMDMi		21542262

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000725412 – 451TERF1-interacting nuclear factor 2Add BLAST450

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei295PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki302Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki306Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki341Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki353Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BSI4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BSI4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BSI4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BSI4

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BSI4

PeptideAtlas

More...PeptideAtlasi		Q9BSI4

PRoteomics IDEntifications database

More...PRIDEi		Q9BSI4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		78895 [Q9BSI4-1]
78896 [Q9BSI4-2]
78897 [Q9BSI4-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BSI4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BSI4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000092330, Expressed in left adrenal gland and 239 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BSI4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BSI4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000092330, Tissue enriched (parathyroid)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q9BSI4
With#Exp.IntAct
ACD [A0A590TQL1]5EBI-717399,EBI-23197871
ACD [Q96AP0]15EBI-717399,EBI-717666
ACTB [P60709]2EBI-717399,EBI-353944
AIPL1 [Q9NZN9]2EBI-717399,EBI-6557414
ANKMY2 [Q8IV38]2EBI-717399,EBI-9393876
ANXA4 [P09525]2EBI-717399,EBI-2556852
ANXA5 [P08758]2EBI-717399,EBI-296601
ARHGDIA [P52565]2EBI-717399,EBI-712693
ARID3B [Q8IVW6]2EBI-717399,EBI-5458329
BAG3 [O95817]2EBI-717399,EBI-747185
CALD1 [Q05682]2EBI-717399,EBI-1642116
CCDC43 [Q96MW1]2EBI-717399,EBI-9247198
CCDC9 [Q9Y3X0]2EBI-717399,EBI-2557532
CLK3 [P49761]2EBI-717399,EBI-745579
CPNE3 [O75131]2EBI-717399,EBI-718988
DBN1 [Q16643]2EBI-717399,EBI-351394
DCX [O43602]2EBI-717399,EBI-8646694
EIF4B [P23588]2EBI-717399,EBI-970310
ENO2 [P09104]2EBI-717399,EBI-713154
FAM131B [Q86XD5]2EBI-717399,EBI-11308812
GAPDH [P04406]2EBI-717399,EBI-354056
KCTD17 [Q8N5Z5]2EBI-717399,EBI-743960
LGALSL [Q3ZCW2]2EBI-717399,EBI-10241423
LTA4H [P09960]2EBI-717399,EBI-721089
MAP2K3 [P46734]2EBI-717399,EBI-602462
NCDN [Q9UBB6]2EBI-717399,EBI-1053490
NOL3 [O60936]2EBI-717399,EBI-740992
PAGE2 [Q7Z2X7]2EBI-717399,EBI-10256818
PEX5 [P50542]2EBI-717399,EBI-597835
PGM1 [P36871]2EBI-717399,EBI-2861475
PGM2 [Q96G03]2EBI-717399,EBI-4399372
PKM [P14618]2EBI-717399,EBI-353408
POT1 [Q9NUX5]3EBI-717399,EBI-752420
PPP1R2 [P41236]2EBI-717399,EBI-1056517
PRKCB [P05771]2EBI-717399,EBI-706216
RGS14 [O43566]2EBI-717399,EBI-750603
RPSA [P08865]2EBI-717399,EBI-354112
SCRN2 [Q96FV2]2EBI-717399,EBI-11306862
SULT1C2 [O00338]2EBI-717399,EBI-3913419
TAGLN [Q01995]2EBI-717399,EBI-1054248
TBL1X [O60907]2EBI-717399,EBI-3505105
TERF1 [P54274]11EBI-717399,EBI-710997
TERF2 [Q15554]11EBI-717399,EBI-706637
TOMM34 [Q15785]2EBI-717399,EBI-1054499
TRIM16 [O95361]2EBI-717399,EBI-727384
TRIP10 [Q15642]2EBI-717399,EBI-739936
TUBB [P07437]2EBI-717399,EBI-350864
TXNDC17 [Q9BRA2]2EBI-717399,EBI-1055906
YWHAG [P61981]2EBI-717399,EBI-359832
Isoform 3 [Q9BSI4-3]
With#Exp.IntAct
ACD [Q96AP0]5EBI-717418,EBI-717666
TERF1 [P54274]2EBI-717418,EBI-710997
TERF2 [Q15554]4EBI-717418,EBI-706637
TERF2IP [Q9NYB0]3EBI-717418,EBI-750109

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117660, 123 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-152, Shelterin complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9BSI4

Database of interacting proteins

More...DIPi		DIP-29413N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9BSI4

Protein interaction database and analysis system

More...IntActi		Q9BSI4, 119 interactors

Molecular INTeraction database

More...MINTi		Q9BSI4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000267415

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BSI4, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1451
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9BSI4

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9BSI4

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi256 – 278TBMAdd BLAST23
Motifi262 – 268Nuclear localization signalSequence analysis7

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The TBM domain mediates interaction with TERF1.1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502S5UZ, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00400000022326

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BSI4

Identification of Orthologs from Complete Genome Data

More...OMAi		LIPTFCE

Database of Orthologous Groups

More...OrthoDBi		1445874at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BSI4

TreeFam database of animal gene trees

More...TreeFami		TF334731

Family and domain databases

Conserved Domains Database

More...CDDi		cd11657, TIN2_N, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00180

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039098, TINF2
IPR029400, TINF2_N

The PANTHER Classification System

More...PANTHERi		PTHR15512, PTHR15512, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF14973, TINF2_N, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BSI4-1) [UniParc]FASTAAdd to basket
Also known as: TIN2L

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DFJ1B4DFJ1_HUMAN
TERF1-interacting nuclear factor 2
TINF2
416Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YKA6H0YKA6_HUMAN
TERF1-interacting nuclear factor 2
TINF2
146Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YL96H0YL96_HUMAN
TERF1-interacting nuclear factor 2
TINF2
85Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLC9H0YLC9_HUMAN
TERF1-interacting nuclear factor 2
TINF2
290Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YL20H0YL20_HUMAN
TERF1 (TRF1)-interacting nuclear fa...
TINF2 hCG_38254
140Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YMN3H0YMN3_HUMAN
TERF1-interacting nuclear factor 2
TINF2
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs35653076EnsemblClinVar.1
Natural variantiVAR_051424237G → D. Corresponds to variant dbSNP:rs17102313EnsemblClinVar.1
Natural variantiVAR_051425241P → S. Corresponds to variant dbSNP:rs17102311EnsemblClinVar.1
Natural variantiVAR_043914280K → E in DKCA3. 1 PublicationCorresponds to variant dbSNP:rs121918543EnsemblClinVar.1
Natural variantiVAR_043915282R → H in DKCA3 and DKCA5. 1 PublicationCorresponds to variant dbSNP:rs121918544EnsemblClinVar.1
Natural variantiVAR_043916282R → S in DKCA3. 1 PublicationCorresponds to variant dbSNP:rs121918545EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41936.1 [Q9BSI4-1]
CCDS41937.1 [Q9BSI4-2]

NCBI Reference Sequences

More...RefSeqi		NP_001092744.1, NM_001099274.1 [Q9BSI4-1]
NP_036593.2, NM_012461.2 [Q9BSI4-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000267415; ENSP00000267415; ENSG00000092330 [Q9BSI4-1]
ENST00000399423; ENSP00000382350; ENSG00000092330 [Q9BSI4-2]
ENST00000642983; ENSP00000494089; ENSG00000284915 [Q9BSI4-2]
ENST00000646576; ENSP00000495019; ENSG00000284915 [Q9BSI4-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26277

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26277

UCSC genome browser

More...UCSCi		uc001woa.5, human [Q9BSI4-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3BQOX-ray2.00B257-276[»]
3BU8X-ray2.15C/D258-275[»]
5XYFX-ray2.20A2-202[»]
SMRiQ9BSI4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117660, 123 interactors
ComplexPortaliCPX-152, Shelterin complex
CORUMiQ9BSI4
DIPiDIP-29413N
ELMiQ9BSI4
IntActiQ9BSI4, 119 interactors
MINTiQ9BSI4
STRINGi9606.ENSP00000267415

Protein family/group databases

MoonDBiQ9BSI4, Predicted

PTM databases

iPTMnetiQ9BSI4
PhosphoSitePlusiQ9BSI4

Genetic variation databases

BioMutaiTINF2
DMDMi21542262

Proteomic databases

EPDiQ9BSI4
jPOSTiQ9BSI4
MassIVEiQ9BSI4
MaxQBiQ9BSI4
PaxDbiQ9BSI4
PeptideAtlasiQ9BSI4
PRIDEiQ9BSI4
ProteomicsDBi78895 [Q9BSI4-1]
78896 [Q9BSI4-2]
78897 [Q9BSI4-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22798, 234 antibodies

The DNASU plasmid repository

More...DNASUi		26277

Genome annotation databases

EnsembliENST00000267415; ENSP00000267415; ENSG00000092330 [Q9BSI4-1]
ENST00000399423; ENSP00000382350; ENSG00000092330 [Q9BSI4-2]
ENST00000642983; ENSP00000494089; ENSG00000284915 [Q9BSI4-2]
ENST00000646576; ENSP00000495019; ENSG00000284915 [Q9BSI4-1]
GeneIDi26277
KEGGihsa:26277
UCSCiuc001woa.5, human [Q9BSI4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26277
DisGeNETi26277

GeneCards: human genes, protein and diseases

More...GeneCardsi		TINF2
GeneReviewsiTINF2
HGNCiHGNC:11824, TINF2
HPAiENSG00000092330, Tissue enriched (parathyroid)
MalaCardsiTINF2
MIMi268130, phenotype
604319, gene
613990, phenotype
neXtProtiNX_Q9BSI4
OpenTargetsiENSG00000092330
Orphaneti1775, Dyskeratosis congenita
3322, Hoyeraal-Hreidarsson syndrome
3088, Revesz syndrome
PharmGKBiPA36530
VEuPathDBiHostDB:ENSG00000092330.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502S5UZ, Eukaryota
GeneTreeiENSGT00400000022326
InParanoidiQ9BSI4
OMAiLIPTFCE
OrthoDBi1445874at2759
PhylomeDBiQ9BSI4
TreeFamiTF334731

Enzyme and pathway databases

PathwayCommonsiQ9BSI4
ReactomeiR-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
SIGNORiQ9BSI4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		26277, 697 hits in 1004 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TINF2, human
EvolutionaryTraceiQ9BSI4

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TINF2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		26277
PharosiQ9BSI4, Tbio

Protein Ontology

More...PROi		PR:Q9BSI4
RNActiQ9BSI4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000092330, Expressed in left adrenal gland and 239 other tissues
ExpressionAtlasiQ9BSI4, baseline and differential
GenevisibleiQ9BSI4, HS

Family and domain databases

CDDicd11657, TIN2_N, 1 hit
IDEALiIID00180
InterProiView protein in InterPro
IPR039098, TINF2
IPR029400, TINF2_N
PANTHERiPTHR15512, PTHR15512, 1 hit
PfamiView protein in Pfam
PF14973, TINF2_N, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTINF2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BSI4
Secondary accession number(s): B3W5Q7, Q9H904, Q9UHC2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: June 1, 2001
Last modified: April 7, 2021
This is version 174 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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