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Aliases & Descriptions for TINF2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases TIN2 1 , 2 , 3 , 5 TIN2L 2
Descriptions (TRF1)-interacting nuclear factor 2 variant 1 2 TERF1 (TRF1)-interacting nuclear factor 2 2 TERF1-interacting nuclear factor 2 1 TRF1-interacting nuclear protein 2 3
Search outside databases for aliases for TINF2 genePrevious GC identifers: GC14M022081 GC14M018496 GC14M022698
Summaries for TINF2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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UniProtKB/Swiss-Prot: TINF2_HUMAN, Q9BSI4 Function : Component of the shelterin complex (telosome) that is involved in the regulation oftelomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeatsadded by telomerase and protects chromosome ends; without its protective activity, telomeres areno longer hidden from the DNA damage surveillance and chromosome ends are inappropriatelyprocessed by DNA repair pathways. Plays a role in shelterin complex assembly
Gene Wiki entry for TINF2
Genomic Location for TINF2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
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Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the TINF2 gene Entrez Gene cytogenetic band: 14q12 Ensembl cytogenetic band: 14q12 HGNC cytogenetic band: 14q12 TINF2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure
GeneLoc location for GC14M023778:
(about GC identifiers )
Start:
23,778,689 bp from pter
End:
23,781,720 bp from pter
Size:
3,032 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000014.7 NT_026437.11 Proteins for TINF2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: TINF2_HUMAN, Q9BSI4 (See
protein sequence )Recommended Name: TERF1-interacting nuclear factor 2 Size : 451 amino acids; 50023 Da
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. Binds to TERF1 and ACD
Subcellular location : Nucleus. Telomere. Note=Associated with telomeres
PDB structure from and Proteopedia : 3BQO (3D)
 3BU8 (3D)
 
Secondary accessions : Q9H904 Q9UHC2Alternative splicing : 3 isoforms : Q9BSI4-1 Q9BSI4-2 Q9BSI4-3 (Experimental confirmation may be lacking for some isoforms)
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001092744.1 NP_036593.2 ENSEMBL proteins: ENSP00000382350 ENSP00000267415 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for TINF2: Assays for TINF2:
Protein
Domains/ Families for TINF2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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ProtoNet protein and cluster: Q9BSI4
Gene Function for TINF2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
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Sigma-Aldrich , RNAi from
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Clones , and
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001099274 Applied Biosystems Silencer ® siRNAs for TINF2 Sigma-Aldrich siRNA for TINF2 Sigma-Aldrich shRNA for TINF2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001099274                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001099274                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001099274  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001099274 UniProtKB/Swiss-Prot: TINF2_HUMAN, Q9BSI4 Function : Component of the shelterin complex (telosome) that is involved in the regulation oftelomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeatsadded by telomerase and protects chromosome ends; without its protective activity, telomeres areno longer hidden from the DNA damage surveillance and chromosome ends are inappropriatelyprocessed by DNA repair pathways. Plays a role in shelterin complex assembly
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Tinf2) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for TINF2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for TINF2 5/15 Interacting proteins for TINF2 (ENSP00000267415 3 Q9BSI4 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 15
)About this table 5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
):
About this table
Drugs & Compounds for TINF2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for TINF2 1 Novoseek chemical compound relationship for TINF2 gene
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Transcripts for TINF2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001099274 Sigma-Aldrich siRNA for TINF2 Sigma-Aldrich shRNA for TINF2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001099274 NM_012461
REFSEQ mRNAs for TINF2 gene (2 alternative transcripts): NM_001099274.1 NM_012461.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001099274 NM_012461
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001099274                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001099274                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001099274  
Additional cDNA sequence: AF195512.1 AK225379.1 AK294119.1 AK315084.1 BC005030.1 BC019343.1 BX161478.1 CR590257.1 CR591539.1 CR596834.1 CR598536.1 CR600876.1 CR606987.1 CR613506.1 CR614984.1 CR615677.1 CR617274.1 CR621443.1 CR623530.1 CR623801.1 CR626188.1 EU851975.1
17 DOTS entries : DT.100857582 DT.95129903 DT.100705911 DT.100857577 DT.100728937 DT.218638 DT.95259981 DT.100857581 DT.120749371 DT.95259977 DT.100028932 DT.100760573 DT.100831834 DT.100857575 DT.101966840 DT.120749389 DT.95259965
24/341 AceView cDNA sequences (see all 341
):AI368049 N23175 CA941396 W02711 W76343 BF793349 CR600876 AA430551 BQ669124 BI868341 BQ222471 BU634287 AI027194 CB853427 BP374789 BQ901147 AA292380 AA921358 AI332595 BQ773794 AA039987 CR596834 CR598536 N35812
highest scoring ESTs for TINF2 :AA128884 AA128892 AA448970 AA926811 AF195512 AL598952 AU143347 AU279638 AV686147 BC005030
Unigene Cluster for TINF2: TERF1 (TRF1)-interacting nuclear factor 2 Hs.496191 [show with all ESTs ] Unigene Representative Sequence: NM_012461 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for TINF2 (see all 8
) ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b SP1 :                                     SP2 :                                     SP3 :       -                               SP4 :             -   -   -                     SP5 :                                    
About this scheme ECgene alternative splicing isoforms for TINF2 2 Ensembl transcripts including schematic representations : ENST00000399423
ENST00000267415
Expression for TINF2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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TINF2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for TINF2 1 / 2 / 3
7 probe-sets matching TINF2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CTTCAGAATTSOURCE GeneReport for Unigene cluster: Hs.496191 UniProtKB/Swiss-Prot: TINF2_HUMAN, Q9BSI4 Tissue specificity : Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney andpancreas
Orthologs for TINF2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for TINF2 gene from 5 species
About this table Species with no ortholog for TINF2 ENSEMBL Gene Tree for TINF2 Paralogs for TINF2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for TINF2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for TINF2 (up to first 250kb)
Disorders & Mutations for TINF2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 604319 disorders : 127550 268130 UniProtKB/Swiss-Prot: TINF2_HUMAN, Q9BSI4
Defects in TINF2 are a cause of dyskeratosis congenita autosomal dominant (ADDKC)[MIM:127550]; also known as dyskeratosis congenita Scoggins type. ADDKC is a rare, progressivebone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation,nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrowfailure, infections, fatal pulmonary complications, or malignancy 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 exudativeretinopathy, bone marrow hypoplasia, nail dystrophy, fine hair, cerebellar hypoplasia, and growthretardation
3 Novoseek disease relationships for TINF2 gene
About this table Human Gene Mutation Database : TINF2 Human Genome Epidemiology Navigator: TINF2 (1 document)
Medical News for TINF2 (Possibly Related Articles in
Doctor's Guide )
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Publications for TINF2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/45 PubMed articles for TINF2 gene (see all 45
): TIN2, a new regulator of telomere length in human cells. (PubMed id 10581025) 1, 2, 3, 4 Kim S.-H.... Campisi J. (1999) TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. (PubMed id 18252230) 2, 3, 4 Savage S.A....Alter B.P. (2008) TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. (PubMed id 15316005) 1, 3, 4 Ye J.Z....de Lange T. (2004) A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly. (PubMed id 16880378) 1, 3, 4 O'Connor M.S....Songyang Z. (2006) Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PubMed id 15383534) 1, 3, 4 Liu D....Songyang Z. (2004) Shelterin: the protein complex that shapes and safeguards human telomeres. (PubMed id 16166375) 1, 3, 4 de Lange T. (2005) POT1 as a terminal transducer of TRF1 telomere length control. (PubMed id 12768206) 1, 3, 4 Loayza D. and De Lange T. (2003) POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. (PubMed id 15231715) 3, 4 Ye J.Z.-S.... de Lange T. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004)
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Genome Databases showing TINF2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TINF2
(According to HUGE )
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Specialized Databases showing TINF2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for TINF2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for TINF2:
Recombinant Proteins (Tin2 ) Antibodies (Tin2 )
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