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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 Meiosis and Regulation of Telomerase. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for TINF2 Gene

Promoters and enhancers for TINF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I024240 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 567.1 +0.8 787 3.8 PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B TINF2 KHNYN RNA5SP383 LOC102724814 NGDN NYNRIN RNF31 SDR39U1 ENSG00000259321 TGM1
GH14I023297 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 25.3 +942.3 942327 5.5 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 BCL2L2 HOMEZ PIR57322 PPP1R3E ACIN1 RNA5SP383 RNF31 LOC102724814 ENSG00000259321 RBM23
GH14I024194 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.3 +47.2 47150 3.5 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 TM9SF1 PIR45873 RNF31 TINF2 MDP1 SLC22A17 PSME2 KHNYN RNA5SP383 JPH4
GH14I024113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.4 +128.2 128187 3.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NRL DCAF11 RNF31 NFATC4 IPO4 HOMEZ RNA5SP383 TSSK4 TM9SF1 KHNYN
GH14I023566 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 21.1 +674.7 674704 3.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT MLX ZFP64 ARID4B NEUROD1 SIN3A AP1G2 KHNYN RNA5SP383 ACIN1 NGDN TM9SF1 MMP14 TINF2 PRMT5 C14orf93
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TINF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TINF2 gene promoter:

Genomic Locations for TINF2 Gene

Genomic Locations for TINF2 Gene
chr14:24,234,403-24,243,027
(GRCh38/hg38)
Size:
8,625 bases
Orientation:
Minus strand
chr14:24,708,849-24,711,880
(GRCh37/hg19)

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

No data available for DME Specific Peptides for TINF2 Gene

Domains & Families for TINF2 Gene

Gene Families for TINF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

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: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

Clone Products

  • Addgene plasmids for TINF2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
See all subcellular structures

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:0010836 negative regulation of protein ADP-ribosylation IDA 15133513
GO:0016233 telomere capping TAS,IMP --
GO:0032202 telomere assembly IMP 16880378
GO:0032211 negative regulation of telomere maintenance via telomerase IMP 15133513
GO:0050680 negative regulation of epithelial cell proliferation IMP 15741234
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:

Clone Products

  • Addgene plasmids for TINF2

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
Regions:
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

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 33 34
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia TINF2 33 34
  • 84.89 (n)
cow
(Bos Taurus)
Mammalia TINF2 33 34
  • 84.68 (n)
rat
(Rattus norvegicus)
Mammalia Tinf2 33
  • 76.66 (n)
mouse
(Mus musculus)
Mammalia Tinf2 33 16 34
  • 75.12 (n)
oppossum
(Monodelphis domestica)
Mammalia TINF2 34
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TINF2 34
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TINF2 34
  • 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 Variation AA Info Type
rs1010531209 uncertain-significance, Dyskeratosis Congenita, Dominant, Revesz syndrome 24,242,609(-) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs10141326 benign, Dyskeratosis Congenita, Dominant, Revesz syndrome, Dyskeratosis congenita, not specified 24,240,145(-) C/A/T 3_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1060499576 likely-pathogenic, Dyskeratosis congenita, autosomal dominant, 3, Revesz syndrome 24,242,252(-) G/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant
rs11557911 likely-benign, Dyskeratosis Congenita, Dominant, Revesz syndrome 24,242,504(-) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs117234138 benign, likely-benign, Dyskeratosis congenita, Revesz syndrome, Dyskeratosis Congenita, Dominant 24,239,917(-) G/A 3_prime_UTR_variant, coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for TINF2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

(10) MalaCards diseases for TINF2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
revesz syndrome
  • dyskeratosis congenita, autosomal dominant 5; dkca5
dyskeratosis congenita, autosomal dominant 3
  • dkca3
dyskeratosis congenita autosomal dominant
  • autosomal dominant dyskeratosis congenita
dyskeratosis congenita, autosomal dominant 1
  • dkca1
pulmonary fibrosis and/or bone marrow failure, telomere-related, 2
  • pulmonary fibrosis, idiopathic
- 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.

Additional Disease Information for TINF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SH … Campisi J (Nature genetics 1999) 2 3 4 22 58
  2. A novel form of the telomere-associated protein TIN2 localizes to the nuclear matrix. (PMID: 19229133) Kaminker PG … Campisi J (Cell cycle (Georgetown, Tex.) 2009) 3 4 22 58
  3. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. (PMID: 18252230) Savage SA … Alter BP (American journal of human genetics 2008) 2 3 4 58
  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 AJ … Dokal I (Blood 2008) 3 22 44 58
  5. A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly. (PMID: 16880378) O'Connor MS … Songyang Z (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22 58

Products for TINF2 Gene

  • Addgene plasmids for TINF2

Sources for TINF2 Gene

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