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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
External Ids for TTF2 Gene
- HGNC: 12398
- NCBI Entrez Gene: 8458
- Ensembl: ENSG00000116830
- OMIM®: 604718
- UniProtKB/Swiss-Prot: Q9UNY4
Previous GeneCards Identifiers for TTF2 Gene
- GC01P118062
- GC01P116441
- GC01P116750
- GC01P116949
- GC01P117314
- GC01P117404
- GC01P117602
- GC01P115461
Summaries 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 Aldosterone synthesis and secretion and Human Thyroid Stimulating Hormone (TSH) signaling pathway. 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.
Additional gene information for TTF2 Gene
- HGNC (12398)
- NCBI Entrez Gene (8458)
- Ensembl (ENSG00000116830)
- OMIM® (604718)
- UniProtKB/Swiss-Prot (Q9UNY4)
- Open Targets Platform(ENSG00000116830)
- Search for TTF2 at DataMed
- Search for TTF2 at HumanCyc
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
- 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:
-
- 1p13.1 by HGNC
- 1p13.1 by Entrez Gene
- 1p13.1 by Ensembl
TTF2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for TTF2 Gene
Selected DME Specific Peptides for TTF2 Gene
- Q9UNY4:
-
- LADDMGLGKT
- GGVGLNL
- MGLGKTL
- HQKQALAW
Post-translational modifications for TTF2 Gene
Other Protein References for TTF2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for TTF2
- Novus Biologicals Antibodies for TTF2
-
Abcam antibodies for TTF2
- Invitrogen Antibodies for TTF2 (AFLGC-TTF2)
-
Custom Antibody ServicesProSci Antibodies for TTF2
-
Santa Cruz Biotechnology (SCBT) Antibodies for TTF2
- Sino Biological Antibodies for TTF2
Protein products for research
-
OriGene Purified Proteins for TTF2
- Search Origene for MassSpec and Protein Over-expression Lysates for TTF2
- Origene Custom Protein Services for TTF2
- Novus Biologicals proteins for TTF2
-
Abcam proteins for TTF2
Assay products for research
- antibodies-online: Show 7 available TTF2 Elisa Kits ranked by validation data
- Compare Top TTF2 Elisa Kits
-
Quality Products:
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
- ProtoNet:
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- Family:
-
- Belongs to the SNF2/RAD54 helicase family.
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
| 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 | -- |
Phenotypes for TTF2 Gene
- GenomeRNAi human phenotypes for TTF2:
-
- Decreased hepcidin::fluc mRNA expression
- no effect
- Decreased viability
- Decreased ionizing radiation sensitivity
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Two nuclei (binuclear)
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TTF2 - Starting at $85 >
- * TTF2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TTF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TTF2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TTF2
miRNA for TTF2 Gene
- miRTarBase miRNAs that target TTF2
-
- hsa-miR-215-5p (MIRT024886)
- hsa-miR-192-5p (MIRT026820)
- hsa-miR-16-5p (MIRT032032)
- hsa-miR-183-5p (MIRT047031)
- hsa-miR-3175 (MIRT456149)
- hsa-miR-6883-5p (MIRT456150)
- hsa-miR-6785-5p (MIRT456151)
- hsa-miR-4728-5p (MIRT456152)
- hsa-miR-149-3p (MIRT456153)
- hsa-miR-6797-5p (MIRT456154)
- hsa-miR-1249-5p (MIRT456155)
- hsa-miR-6077 (MIRT456156)
- hsa-miR-361-3p (MIRT456157)
- hsa-miR-6764-5p (MIRT456158)
- hsa-miR-1915-3p (MIRT456159)
- hsa-miR-6754-5p (MIRT456160)
- hsa-miR-7113-5p (MIRT456161)
- hsa-miR-4441 (MIRT456162)
- hsa-miR-4270 (MIRT456163)
- hsa-miR-4756-5p (MIRT456164)
- hsa-miR-4739 (MIRT456165)
- hsa-miR-9500 (MIRT456166)
- hsa-miR-1321 (MIRT456167)
- hsa-miR-5089-5p (MIRT509194)
- hsa-miR-7151-3p (MIRT509195)
- hsa-miR-5095 (MIRT509196)
- hsa-miR-5589-5p (MIRT509197)
- hsa-miR-4731-5p (MIRT509198)
- hsa-miR-6506-5p (MIRT509199)
- hsa-miR-619-5p (MIRT509200)
- hsa-miR-186-3p (MIRT509201)
- hsa-miR-3934-5p (MIRT509202)
- hsa-miR-7853-5p (MIRT509203)
- hsa-miR-105-5p (MIRT509204)
- hsa-miR-552-3p (MIRT509205)
- hsa-miR-335-3p (MIRT615614)
- hsa-miR-6885-3p (MIRT615615)
- hsa-miR-5007-3p (MIRT615616)
- hsa-miR-3140-3p (MIRT615617)
- hsa-miR-4652-3p (MIRT645942)
- hsa-miR-4743-3p (MIRT645943)
- hsa-miR-6868-3p (MIRT645944)
- hsa-miR-627-3p (MIRT645945)
- hsa-miR-1248 (MIRT645946)
- hsa-miR-1237-3p (MIRT645947)
- hsa-miR-4282 (MIRT645948)
- hsa-miR-6809-3p (MIRT645949)
- hsa-miR-6833-3p (MIRT645950)
- hsa-miR-4768-5p (MIRT645951)
- hsa-miR-4753-3p (MIRT645952)
- hsa-miR-6873-3p (MIRT645953)
- hsa-miR-1290 (MIRT645954)
- hsa-miR-130b-5p (MIRT645955)
- hsa-miR-6817-3p (MIRT645956)
- hsa-miR-7110-3p (MIRT645957)
- hsa-miR-541-5p (MIRT645958)
- hsa-miR-129-5p (MIRT645959)
- hsa-miR-8055 (MIRT645960)
- hsa-miR-27b-5p (MIRT645961)
- hsa-miR-208b-5p (MIRT645962)
- hsa-miR-208a-5p (MIRT645963)
- hsa-miR-3164 (MIRT790249)
- hsa-miR-499a-3p (MIRT790660)
- hsa-miR-499b-3p (MIRT790662)
- hsa-miR-6820-3p (MIRT790993)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TTF2
- Browse OriGene Inhibitory RNA Products For TTF2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTF2
Clone products for research
- Applied Biological Materials (abm): Clones for TTF2 - Starting at $45 >
- * TTF2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TTF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
- Cytosol (3)
| 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 |
Pathways & Interactions for TTF2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Aldosterone synthesis and secretion | ||
| 2 | Human Thyroid Stimulating Hormone (TSH) signaling pathway | ||
Pathways by source for TTF2 Gene
1 BioSystems pathway for TTF2 Gene
1 KEGG pathway for TTF2 Gene
Interacting Proteins for TTF2 Gene
Selected Interacting proteins:
Q9UNY4-TTF2_HUMAN
ENSP00000358478
for TTF2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TTF2
| 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 | -- |
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 :
-
- ENST00000369466 9439 nts (view in UCSC)
- ENST00000427271 639 nts (view in UCSC)
- ENST00000463696 662 nts (view in UCSC)
- ENST00000469638 775 nts (view in UCSC)
- ENST00000470935 849 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TTF2 - Starting at $85 >
- * TTF2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TTF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TTF2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TTF2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TTF2
- Browse OriGene Inhibitory RNA Products For TTF2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTF2
Clone products for research
- Applied Biological Materials (abm): Clones for TTF2 - Starting at $45 >
- * TTF2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TTF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TTF2
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Breast (Uncategorized)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTF2
SOURCE GeneReport for Unigene cluster for TTF2 Gene:
Hs.486818Evidence on tissue expression from TISSUES for TTF2 Gene
- Nervous system(4.2)
Primer products for research
-
OriGene qPCR primer pairs for TTF2
Gene Expression Assays 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TTF2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TTF2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TTF2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ttf2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ttf2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | TTF2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TTF2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TTF2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TTF2 31 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16195 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | si:ch1073-303l5.1 30 |
|
||
| TTF2 31 |
|
OneToOne | |||
| Dr.29408 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | lds 31 32 |
|
OneToMany | |
| CG10445 31 32 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | F54E12.2 30 31 |
|
OneToMany | |
| F59A7.8 31 32 |
|
OneToMany | |||
| T23H2.3 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD16 31 |
|
OneToMany | |
| ULS1 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10555 30 |
|
- 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
Paralogs for TTF2 Gene
Paralogs for TTF2 Gene
- HLTF 5
- ATRX 5
- BTAF1 5
- SRCAP 5
- ENSG00000282034 5
- SMARCA2 5
- INO80 5
- SMARCA4 5
- CHD7 5
- SMARCAD1 5
- CHD8 5
- ERCC6 5
- CHD5 5
- ENSG00000285238 5
- CHD4 5
- CHD3 5
- RAD54B 5
- CHD1 5
- CHD9 5
- CHD2 5
- SHPRH 5
- CHD6 5
- ERCC6L 5
- HELLS 5
- EP400 5
- SMARCA1 5
- RAD54L2 5
- RAD54L 5
- SMARCA5 5
- SMARCAL1 5
- CHD1L 5
- ZRANB3 5
- ENSG00000279765 5
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1009706 | CNV | gain | 25217958 |
| nsv1127019 | CNV | deletion | 24896259 |
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
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cornea plana |
|
|
| axenfeld-rieger syndrome |
|
|
| gilles de la tourette syndrome |
|
|
| congenital hypothyroidism |
|
|
| charcot-marie-tooth disease |
|
|
Search TTF2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TTF2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for TTF2 Gene
Publications for TTF2 Gene
- 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 23
- 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 23
- Involvement of transcription termination factor 2 in mitotic repression of transcription elongation. (PMID: 15125840) Jiang Y … Price DH (Molecular cell 2004) 3 4 23
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for TTF2 Gene
- Custom Antibody ServicesOriGene Antibodies for TTF2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for TTF2
- Search Origene for MassSpec and Protein Over-expression Lysates for TTF2
- Origene Custom Protein Services for TTF2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TTF2
- Browse OriGene Inhibitory RNA Products For TTF2
- OriGene qPCR primer pairs for TTF2
- OriGene CRISPR knockouts for TTF2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TTF2
- Sino Biological Human cDNA Clone for TTF2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for TTF2
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for TTF2
- Novus Biologicals proteins for TTF2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- Abcam antibodies for TTF2
- Abcam proteins for TTF2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
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- Invitrogen Antibodies for TTF2 (AFLGC-TTF2)
- VectorBuilder Custom and pre-made DNA vectors for TTF2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TTF2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TTF2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TTF2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TTF2
- antibodies-online: Show 22 available TTF2 Antibodies ranked by validation data
- Compare Top TTF2 Antibodies
- antibodies-online: Show 7 available TTF2 Elisa Kits ranked by validation data
- Compare Top TTF2 Elisa Kits
- Quality Products:
- antibodies-online: Show 3 available TTF2 Proteins ranked by validation data
- Compare Top TTF2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for TTF2
- Search Santa Cruz Biotechnology (SCBT) for TTF2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TTF2
- Custom Antibody ServicesProSci Antibodies for TTF2
- Search for TTF2 Proteins at ProSci
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TTF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TTF2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TTF2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTF2
Sources for TTF2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB