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Aliases for TINF2 Gene

Aliases for TINF2 Gene

  • TERF1 (TRF1)-Interacting Nuclear Factor 2 2 3 5
  • TRF1-Interacting Nuclear Protein 2 3 4
  • TIN2 3 4
  • DKCA3 3

External Ids for TINF2 Gene

Previous GeneCards Identifiers for TINF2 Gene

  • GC14M022081
  • GC14M018496
  • GC14M022698
  • GC14M023778
  • GC14M024708
  • GC14M004823

Summaries for TINF2 Gene

Entrez Gene Summary for TINF2 Gene

  • This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]

GeneCards Summary for TINF2 Gene

TINF2 (TERF1 (TRF1)-Interacting Nuclear Factor 2) is a Protein Coding gene. Diseases associated with TINF2 include revesz syndrome and dyskeratosis congenita, autosomal dominant 3. Among its related pathways are Cellular Senescence and Cell Cycle, Mitotic. GO annotations related to this gene include telomeric DNA binding.

UniProtKB/Swiss-Prot for TINF2 Gene

  • 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.

Gene Wiki entry for TINF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TINF2 Gene

Genomics for TINF2 Gene

Regulatory Elements for TINF2 Gene

Promoters for TINF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TINF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TINF2 Gene

Chromosome:
14
Start:
24,234,403 bp from pter
End:
24,243,027 bp from pter
Size:
8,625 bases
Orientation:
Minus strand

Genomic View for TINF2 Gene

Genes around TINF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TINF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TINF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TINF2 Gene

Proteins for TINF2 Gene

  • Protein details for TINF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSI4-TINF2_HUMAN
    Recommended name:
    TERF1-interacting nuclear factor 2
    Protein Accession:
    Q9BSI4
    Secondary Accessions:
    • B3W5Q7
    • Q9H904
    • Q9UHC2

    Protein attributes for TINF2 Gene

    Size:
    451 amino acids
    Molecular mass:
    50023 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for TINF2 Gene

    Alternative splice isoforms for TINF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TINF2 Gene

Proteomics data for TINF2 Gene at MOPED

Post-translational modifications for TINF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for TINF2 Gene

Domains & Families for TINF2 Gene

Protein Domains for TINF2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BSI4

UniProtKB/Swiss-Prot:

TINF2_HUMAN :
  • The TBM domain mediates interaction with TERF1.
Domain:
  • The TBM domain mediates interaction with TERF1.
genes like me logo Genes that share domains with TINF2: view

No data available for Gene Families for TINF2 Gene

Function for TINF2 Gene

Molecular function for TINF2 Gene

UniProtKB/Swiss-Prot Function:
Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.
genes like me logo Genes that share phenotypes with TINF2: view

Human Phenotype Ontology for TINF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TINF2 Gene

MGI Knock Outs for TINF2:

Animal Model Products

CRISPR Products

miRNA for TINF2 Gene

miRTarBase miRNAs that target TINF2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TINF2 Gene

Localization for TINF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TINF2 Gene

Nucleus. Chromosome, telomere. Note=Associated with telomeres.
Isoform 1: Nucleus matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TINF2 Gene COMPARTMENTS Subcellular localization image for TINF2 gene
Compartment Confidence
nucleus 5
mitochondrion 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TINF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0010370 perinucleolar chromocenter IDA 15741234
genes like me logo Genes that share ontologies with TINF2: view

Pathways & Interactions for TINF2 Gene

genes like me logo Genes that share pathways with TINF2: view

Pathways by source for TINF2 Gene

SIGNOR curated interactions for TINF2 Gene

Other effect:

Gene Ontology (GO) - Biological Process for TINF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010833 telomere maintenance via telomere lengthening IMP 18669893
GO:0010836 negative regulation of protein ADP-ribosylation IGI 15133513
GO:0032202 telomere assembly IMP 16880378
GO:0034502 protein localization to chromosome IMP 15133513
GO:0070198 protein localization to chromosome, telomeric region IMP 15133513
genes like me logo Genes that share ontologies with TINF2: view

Drugs & Compounds for TINF2 Gene

(2) Additional Compounds for TINF2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TINF2: view

Transcripts for TINF2 Gene

Unigene Clusters for TINF2 Gene

TERF1 (TRF1)-interacting nuclear factor 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TINF2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1:
SP2:
SP3: -
SP4: - - -
SP5:
SP6:
SP7: - - - - -
SP8:

Relevant External Links for TINF2 Gene

GeneLoc Exon Structure for
TINF2
ECgene alternative splicing isoforms for
TINF2

Expression for TINF2 Gene

mRNA expression in normal human tissues for TINF2 Gene

Protein differential expression in normal tissues from HIPED for TINF2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (37.7), CD8 Tcells (17.0), and Blymphocyte (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TINF2 Gene



SOURCE GeneReport for Unigene cluster for TINF2 Gene Hs.496191

mRNA Expression by UniProt/SwissProt for TINF2 Gene

Q9BSI4-TINF2_HUMAN
Tissue specificity: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with TINF2: view

Protein tissue co-expression partners for TINF2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TINF2 Gene

Orthologs for TINF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TINF2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TINF2 35
  • 84.68 (n)
  • 79.82 (a)
TINF2 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TINF2 35
  • 84.89 (n)
  • 80.87 (a)
TINF2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tinf2 35
  • 75.12 (n)
  • 65.94 (a)
Tinf2 16
Tinf2 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TINF2 35
  • 99.26 (n)
  • 98.89 (a)
TINF2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tinf2 35
  • 76.66 (n)
  • 71.03 (a)
oppossum
(Monodelphis domestica)
Mammalia TINF2 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TINF2 36
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TINF2 36
  • 34 (a)
OneToOne
Species with no ortholog for TINF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TINF2 Gene

ENSEMBL:
Gene Tree for TINF2 (if available)
TreeFam:
Gene Tree for TINF2 (if available)

Paralogs for TINF2 Gene

No data available for Paralogs for TINF2 Gene

Variants for TINF2 Gene

Sequence variations from dbSNP and Humsavar for TINF2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_043914 Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)
VAR_043915 Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)
VAR_043915 Dyskeratosis congenita, autosomal dominant, 5 (DKCA5)
VAR_043916 Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)
rs35653076 - 24,242,206(-) TGCGC(A/G)CTGTT reference, missense

Variation tolerance for TINF2 Gene

Residual Variation Intolerance Score: 46.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.49; 55.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TINF2 Gene

HapMap Linkage Disequilibrium report
TINF2
Human Gene Mutation Database (HGMD)
TINF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TINF2 Gene

Disorders for TINF2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TINF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
revesz syndrome
  • exudative retinopathy with bone marrow failure
dyskeratosis congenita, autosomal dominant 3
  • dyskeratosis congenita, autosomal dominant, 3
dyskeratosis congenita autosomal dominant
  • autosomal dominant dyskeratosis congenita
dyskeratosis congenita, autosomal dominant 1
dyskeratosis congenita
  • revesz syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TINF2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TINF2_HUMAN
  • Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269 PubMed:18252230}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dyskeratosis congenita, autosomal dominant, 5 (DKCA5) [MIM:268130]: A 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. {ECO:0000269 PubMed:18252230}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TINF2

Genetic Association Database (GAD)
TINF2
Human Genome Epidemiology (HuGE) Navigator
TINF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TINF2
genes like me logo Genes that share disorders with TINF2: view

No data available for Genatlas for TINF2 Gene

Publications for TINF2 Gene

  1. TIN2, a new regulator of telomere length in human cells. (PMID: 10581025) Kim S.-H. … Campisi J. (Nat. Genet. 1999) 2 3 4 23 67
  2. A novel form of the telomere-associated protein TIN2 localizes to the nuclear matrix. (PMID: 19229133) Kaminker P.G. … Campisi J. (Cell Cycle 2009) 3 23
  3. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. (PMID: 18252230) Savage S.A. … Alter B.P. (Am. J. Hum. Genet. 2008) 2 3
  4. Telomere dysfunction and cell survival: roles for distinct TIN2-containing complexes. (PMID: 18443218) Kim S.H. … Campisi J. (J. Cell Biol. 2008) 3 23
  5. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. (PMID: 18669893) Walne A.J. … Dokal I. (Blood 2008) 3 23

Products for TINF2 Gene

Sources for TINF2 Gene

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