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Aliases for TINF2 Gene

Aliases for TINF2 Gene

  • TERF1 Interacting Nuclear Factor 2 2 3 5
  • TERF1 (TRF1)-Interacting Nuclear Factor 2 2 3
  • TRF1-Interacting Nuclear Protein 2 3 4
  • TIN2 3 4
  • TERF1-Interacting Nuclear Factor 2 3
  • 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 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 Apoptotic Pathways in Synovial Fibroblasts and DNA Damage/Telomere Stress Induced Senescence. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TINF2 Gene

Genomics for TINF2 Gene

Regulatory Elements for TINF2 Gene

Enhancers for TINF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G024270 1.5 FANTOM5 ENCODE 17.4 -29.8 -29799 5.4 HDGF PKNOX1 MLX ARNT CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 DHRS1 TINF2 LTB4R KHNYN NEDD8-MDP1 NEDD8 NOP9 GMPR2 MDP1 ENSG00000254692
GH14G024277 1.4 FANTOM5 Ensembl ENCODE 16.9 -36.6 -36574 5.2 CTCF PKNOX1 USF1 NFIB MAX EBF1 RAD21 RELA RFX5 NFYB DHRS1 TINF2 NOP9 LTB4R2 LTB4R CIDEB GMPR2 NEDD8-MDP1 NEDD8 MDP1
GH14G024422 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -184.7 -184719 10.3 MLX CREB3L1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 CBLN3 KHNYN MDP1 NYNRIN ENSG00000259321 TINF2 ADCY4 NEDD8-MDP1 NEDD8 SDR39U1
GH14G024194 1.1 ENCODE 11.4 +47.2 47151 3.5 HDGF HNRNPUL1 PKNOX1 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 MDP1 REC8 NEDD8 NEDD8-MDP1 TINF2 RNF31 PSME2 PABPN1 TGM1 NFATC4
GH14G024240 1.7 FANTOM5 ENCODE dbSUPER 5.8 +0.8 787 3.8 PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 KHNYN RNA5SP383 LOC102724814 NYNRIN ENSG00000259321 TGM1 IRF9 TINF2 PSME1 RNF31
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TINF2 on UCSC Golden Path with GeneCards custom track

Promoters for TINF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000066845 427 1601 PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

Post-translational modifications for TINF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for TINF2

No data available for DME Specific Peptides for TINF2 Gene

Domains & Families for TINF2 Gene

Gene 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

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.

Gene Ontology (GO) - Molecular Function for TINF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 NOT DNA binding IDA 10581025
GO:0005515 protein binding IPI 11701125
GO:0010521 telomerase inhibitor activity IMP --
GO:0042162 telomeric DNA binding IDA 12768206
genes like me logo Genes that share ontologies with TINF2: view
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

miRNA for TINF2 Gene

miRTarBase miRNAs that target TINF2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TINF2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0000781 chromosome, telomeric region IDA 10581025
GO:0000783 nuclear telomere cap complex IDA 16880378
GO:0000784 nuclear chromosome, telomeric region IDA 15133513
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
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 --
GO:0010836 negative regulation of protein ADP-ribosylation IDA,IGI 15133513
GO:0016233 telomere capping TAS --
GO:0032202 telomere assembly IMP 16880378
GO:0032206 positive regulation of telomere maintenance IMP --
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TINF2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TINF2 Gene



Protein tissue co-expression partners for TINF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TINF2 Gene:

TINF2

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.

Evidence on tissue expression from TISSUES for TINF2 Gene

  • Nervous system(4.1)
  • Lung(2.7)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TINF2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • salivary gland
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • urinary bladder
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TINF2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TINF2 34 35
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia TINF2 34 35
  • 84.89 (n)
cow
(Bos Taurus)
Mammalia TINF2 34 35
  • 84.68 (n)
rat
(Rattus norvegicus)
Mammalia Tinf2 34
  • 76.66 (n)
mouse
(Mus musculus)
Mammalia Tinf2 34 16 35
  • 75.12 (n)
oppossum
(Monodelphis domestica)
Mammalia TINF2 35
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TINF2 35
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TINF2 35
  • 34 (a)
OneToOne
Species where no ortholog for TINF2 was found in the sources mined by GeneCards:
  • 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
rs121918543 Pathogenic, Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990] 24,240,642(-) GCCAT(A/G/T)AGGAG reference, missense, utr-variant-3-prime, stop-gained
rs121918544 Pathogenic, Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990], Dyskeratosis congenita, autosomal dominant, 5 (DKCA5) [MIM:268130] 24,240,635(-) GGAGC(A/G)CCCCA reference, missense, utr-variant-3-prime
rs121918545 Pathogenic, Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990] 24,240,636(-) AGGAG(A/C/T)GCCCC reference, missense, utr-variant-3-prime
rs142777869 Pathogenic 24,240,746(+) TTGAA(G/T)ATGGT reference, missense, utr-variant-3-prime
rs199422311 Pathogenic 24,240,633(-) AGCGC(C/G/T)CCACA reference, missense, utr-variant-3-prime

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

Human Gene Mutation Database (HGMD)
TINF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(8) 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 1
aplastic anemia
  • pulmonary fibrosis, idiopathic
dyskeratosis congenita
  • zinsser-cole-engman 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 22 64
  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 4 22 64
  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 64
  4. 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 22 46 64
  5. A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly. (PMID: 16880378) O'Connor M.S. … Songyang Z. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 22 64

Products for TINF2 Gene

Sources for TINF2 Gene

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