This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splic... See more...

Aliases for TTF2 Gene

Aliases for TTF2 Gene

  • Transcription Termination Factor 2 2 3 4 5
  • Transcription Release Factor 2 2 3 4
  • HuF2 2 3 4
  • Transcription Termination Factor, RNA Polymerase II 2 3
  • RNA Polymerase II Termination Factor 3 4
  • Zinc Finger, GRF-Type Containing 6 2 3
  • Lodestar Homolog 3 4
  • ZGRF6 2 3
  • F2 3 4
  • Lodestar Protein 3
  • Human Factor 2 3
  • EC 3.6.4.- 4
  • EC 3.6.1 50
  • TTF2 5

External Ids for TTF2 Gene

Previous GeneCards Identifiers for TTF2 Gene

  • GC01P118062
  • GC01P116441
  • GC01P116750
  • GC01P116949
  • GC01P117314
  • GC01P117404
  • GC01P117602
  • GC01P115461

Summaries for TTF2 Gene

Entrez Gene Summary for TTF2 Gene

  • This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008]

GeneCards Summary for TTF2 Gene

TTF2 (Transcription Termination Factor 2) is a Protein Coding gene. Diseases associated with TTF2 include Cornea Plana and Axenfeld-Rieger Syndrome. Among its related pathways are Human Thyroid Stimulating Hormone (TSH) signaling pathway and Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include hydrolase activity and DNA-dependent ATPase activity. An important paralog of this gene is HLTF.

UniProtKB/Swiss-Prot Summary for TTF2 Gene

  • DsDNA-dependent ATPase which acts as a transcription termination factor by coupling ATP hydrolysis with removal of RNA polymerase II from the DNA template. May contribute to mitotic transcription repression. May also be involved in pre-mRNA splicing.

Gene Wiki entry for TTF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTF2 Gene

Genomics for TTF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TTF2 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
GH01J117058 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 277.3 +0.2 219 4.6 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 KLF9 POLR2A ZNF10 ZSCAN16 TTF2 LOC101929099 HSALNG0006363 WDR3 GDAP2 MAN1A2 ATP1A1-AS1 CD101 TRIM45
GH01J116736 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 12.8 -321.2 -321247 4.6 BCLAF1 ZNF654 ATF2 BCL11A REST ZNF592 TRIM22 CTCF NR2C1 RAD21 TTF2 LOC101929099 CD101 IGSF3 ATP1A1 CD2 NEFHP1 lnc-IGSF3-3 piR-31508-004
GH01J117076 Enhancer 1.1 FANTOM5 Ensembl ENCODE 12.8 +17.0 17011 1.8 JUND CEBPB ZNF639 EP300 RFX5 INSM2 ZFP37 MAFK NFATC1 MAFF TTF2 TRIM45 CD101 LOC101929099 MIR942
GH01J117120 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 5 +61.8 61788 3 SP1 ZNF654 MYC ZNF600 ZNF580 ZNF592 NFIC POLR2A ZIC2 ZBTB10 TRIM45 WDR3 ATP1A1-AS1 VTCN1 ENSG00000212266 TTF2 piR-42686 lnc-TTF2-2
GH01J116721 Enhancer 0.8 Ensembl ENCODE 11.1 -337.8 -337760 1.3 MYC ARNT ZNF316 NFE2 ZBTB40 CTCF MAFG ATF4 MAFK MAFF LINC02868 LOC101929099 TTF2 CD2 IGSF3 MIR320B1 CD101 GAPDHP64 piR-31508-004
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTF2

Top Transcription factor binding sites by QIAGEN in the TTF2 gene promoter:
  • AML1a
  • AREB6
  • Arnt
  • ATF
  • E2F
  • E2F-1
  • E2F-2
  • GATA-2
  • PPAR-alpha
  • RSRFC4

Genomic Locations for TTF2 Gene

Latest Assembly
chr1:117,060,303-117,107,453
(GRCh38/hg38)
Size:
47,151 bases
Orientation:
Plus strand

Previous Assembly
chr1:117,602,948-117,650,075
(GRCh37/hg19 by Entrez Gene)
Size:
47,128 bases
Orientation:
Plus strand

chr1:117,602,925-117,650,075
(GRCh37/hg19 by Ensembl)
Size:
47,151 bases
Orientation:
Plus strand

Genomic View for TTF2 Gene

Genes around TTF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTF2 Gene

Proteins for TTF2 Gene

  • Protein details for TTF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNY4-TTF2_HUMAN
    Recommended name:
    Transcription termination factor 2
    Protein Accession:
    Q9UNY4
    Secondary Accessions:
    • A8K4Q2
    • O75921
    • Q5T2K7
    • Q5VVU8
    • Q8N6I8

    Protein attributes for TTF2 Gene

    Size:
    1162 amino acids
    Molecular mass:
    129588 Da
    Quaternary structure:
    • Interacts with CDC5L. Part of the spliceosome.

    Alternative splice isoforms for TTF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTF2 Gene

Selected DME Specific Peptides for TTF2 Gene

Q9UNY4:
  • LADDMGLGKT
  • GGVGLNL
  • MGLGKTL
  • HQKQALAW

Post-translational modifications for TTF2 Gene

  • Ubiquitination at Lys567, Lys814, and Lys1109
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for TTF2

Domains & Families for TTF2 Gene

Gene Families for TTF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TTF2 Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAH-box
  • SNF2 related domain

Suggested Antigen Peptide Sequences for TTF2 Gene

GenScript: Design optimal peptide antigens:
  • Transcription release factor 2 (TTF2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UNY4

UniProtKB/Swiss-Prot:

TTF2_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with TTF2: view

Function for TTF2 Gene

Molecular function for TTF2 Gene

UniProtKB/Swiss-Prot Function:
DsDNA-dependent ATPase which acts as a transcription termination factor by coupling ATP hydrolysis with removal of RNA polymerase II from the DNA template. May contribute to mitotic transcription repression. May also be involved in pre-mRNA splicing.

Enzyme Numbers (IUBMB) for TTF2 Gene

Phenotypes From GWAS Catalog for TTF2 Gene

Gene Ontology (GO) - Molecular Function for TTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 12927788
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TTF2: view
genes like me logo Genes that share phenotypes with TTF2: view

miRNA for TTF2 Gene

miRTarBase miRNAs that target TTF2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTF2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTF2 Gene

Localization for TTF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTF2 Gene

Cytoplasm. Nucleus. Note=Cytoplasmic during interphase. Relocates to the nucleus as cells enter mitosis.

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 TTF2 gene
Compartment Confidence
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005681 spliceosomal complex IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0008023 transcription elongation factor complex TAS 9748214
genes like me logo Genes that share ontologies with TTF2: view

Pathways & Interactions for TTF2 Gene

genes like me logo Genes that share pathways with TTF2: view

Pathways by source for TTF2 Gene

1 KEGG pathway for TTF2 Gene

SIGNOR curated interactions for TTF2 Gene

Activates:

Gene Ontology (GO) - Biological Process for TTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006353 DNA-templated transcription, termination TAS 9748214
GO:0006369 termination of RNA polymerase II transcription TAS 9748214
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with TTF2: view

Drugs & Compounds for TTF2 Gene

(37) Drugs for TTF2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(17) Additional Compounds for TTF2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TTF2: view

Transcripts for TTF2 Gene

mRNA/cDNA for TTF2 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTF2

Alternative Splicing Database (ASD) splice patterns (SP) for TTF2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1: -
SP2: -
SP3: -

Relevant External Links for TTF2 Gene

GeneLoc Exon Structure for
TTF2

Expression for TTF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TTF2 Gene

This gene is overexpressed in Plasma (42.3), Monocytes (16.2), and Peripheral blood mononuclear cells (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TTF2 Gene



Protein tissue co-expression partners for TTF2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTF2

SOURCE GeneReport for Unigene cluster for TTF2 Gene:

Hs.486818

Evidence on tissue expression from TISSUES for TTF2 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TTF2: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTF2 Gene

Orthologs for TTF2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TTF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TTF2 29 30
  • 99.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TTF2 29 30
  • 83.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TTF2 29 30
  • 80.98 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ttf2 29 16 30
  • 78.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ttf2 29
  • 78.03 (n)
Oppossum
(Monodelphis domestica)
Mammalia TTF2 30
  • 62 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TTF2 30
  • 41 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TTF2 29 30
  • 61.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TTF2 30
  • 49 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16195 29
Zebrafish
(Danio rerio)
Actinopterygii si:ch1073-303l5.1 29
  • 58.57 (n)
TTF2 30
  • 50 (a)
OneToOne
Dr.29408 29
Fruit Fly
(Drosophila melanogaster)
Insecta lds 30 31
  • 32 (a)
OneToMany
CG10445 30 31
  • 24 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F54E12.2 29 30
  • 48.06 (n)
OneToMany
F59A7.8 30 31
  • 31 (a)
OneToMany
T23H2.3 30
  • 31 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD16 30
  • 27 (a)
OneToMany
ULS1 30
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.10555 29
Species where no ortholog for TTF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • 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 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)

Evolution for TTF2 Gene

ENSEMBL:
Gene Tree for TTF2 (if available)
TreeFam:
Gene Tree for TTF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTF2: view image
Alliance of Genome Resources:
Additional Orthologs for TTF2

Paralogs for TTF2 Gene

Variants for TTF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTF2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs138286826 Benign: not provided 117,060,509(+) G/A
NM_003594.4(TTF2):c.83G>A (p.Ser28Asn)
MISSENSE
rs139705346 Benign: not provided 117,076,740(+) G/A
NM_003594.4(TTF2):c.1490G>A (p.Arg497His)
MISSENSE
rs140571064 Likely Benign: not provided 117,101,416(+) A/T
NM_003594.4(TTF2):c.3381A>T (p.Leu1127Phe)
MISSENSE
rs142512730 Likely Benign: not provided 117,075,613(+) G/C
NM_003594.4(TTF2):c.1029G>C (p.Glu343Asp)
MISSENSE
rs143131893 Likely Benign: not provided 117,092,882(+) G/A
NM_003594.4(TTF2):c.2957G>A (p.Gly986Asp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TTF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TTF2 Gene

Variant ID Type Subtype PubMed ID
nsv1009706 CNV gain 25217958
nsv1127019 CNV deletion 24896259

Variation tolerance for TTF2 Gene

Residual Variation Intolerance Score: 73.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTF2 Gene

Human Gene Mutation Database (HGMD)
TTF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTF2
Leiden Open Variation Database (LOVD)
TTF2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTF2 Gene

Disorders for TTF2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TTF2 Gene - From: GCD

Disorder Aliases PubMed IDs
cornea plana
  • flat cornea
axenfeld-rieger syndrome
  • anomaly, rieger's
gilles de la tourette syndrome
  • gts
congenital hypothyroidism
  • neonatal hypothyroidism
charcot-marie-tooth disease
  • cmt - charcot-marie-tooth disease
- elite association - COSMIC cancer census association via MalaCards
Search TTF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TTF2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TTF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTF2 Gene

Publications for TTF2 Gene

  1. Human transcription release factor 2 dissociates RNA polymerases I and II stalled at a cyclobutane thymine dimer. (PMID: 10455150) Hara R … Sancar A (The Journal of biological chemistry 1999) 2 3 4 22
  2. A human RNA polymerase II transcription termination factor is a SWI2/SNF2 family member. (PMID: 9748214) Liu M … Price DH (The Journal of biological chemistry 1998) 2 3 4 22
  3. Involvement of transcription termination factor 2 in mitotic repression of transcription elongation. (PMID: 15125840) Jiang Y … Price DH (Molecular cell 2004) 3 4 22
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for TTF2 Gene

Sources for TTF2 Gene