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Aliases for TTC3 Gene
Aliases for TTC3 Gene
External Ids for TTC3 Gene
- HGNC: 12393
- Entrez Gene: 7267
- Ensembl: ENSG00000182670
- OMIM: 602259
- UniProtKB: P53804
Previous GeneCards Identifiers for TTC3 Gene
- GC21P035035
- GC21P037375
- GC21P037378
- GC21P037376
- GC21P037367
- GC21P038445
- GC21P023921
Summaries for TTC3 Gene
GeneCards Summary for TTC3 Gene
TTC3 (Tetratricopeptide Repeat Domain 3) is a Protein Coding gene. Diseases associated with TTC3 include Down Syndrome and Cataract 4, Multiple Types. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity.
UniProtKB/Swiss-Prot Summary for TTC3 Gene
-
E3 ubiquitin-protein ligase which catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:20059950, PubMed:30696809). Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus (PubMed:20059950). Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation (PubMed:20059950). Positively regulates TGFB1-induced epithelial-mesenchymal transition and myofibroblast differentiation by mediating the ubiquitination and subsequent degradation of SMURF2 (PubMed:30696809). Regulates neuronal differentiation by regulating actin remodeling and Golgi organization via a signaling cascade involving RHOA, CIT and ROCK (PubMed:17488780, PubMed:24695496). Inhibits cell proliferation (PubMed:30203323).
Additional gene information for TTC3 Gene
- HGNC(12393)
- Entrez Gene(7267)
- Ensembl(ENSG00000182670)
- OMIM(602259)
- UniProtKB(P53804)
- Open Targets Platform(ENSG00000182670)
- Monarch Initiative
- Search for TTC3 at DataMed
- Search for TTC3 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTC3 Gene
Genomics for TTC3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TTC3 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 TTC3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTC3
- Top Transcription factor binding sites by QIAGEN in the TTC3 gene promoter:
-
- AREB6
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- NF-kappaB1
- Pbx1a
- RelA
Genomic Locations for TTC3 Gene
Genomic Locations for TTC3 Gene
- chr21:37,073,184-37,203,118
- (GRCh38/hg38)
- Size:
- 129,935 bases
- Orientation:
- Plus strand
- chr21:38,445,526-38,575,413
- (GRCh37/hg19)
- Size:
- 129,888 bases
- Orientation:
- Plus strand
Genomic View for TTC3 Gene
Genes around TTC3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.13 by HGNC
- 21q22.13 by Entrez Gene
- 21q22.13 by Ensembl
TTC3 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 TTC3 Gene
Proteins for TTC3 Gene
-
Protein details for TTC3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P53804-TTC3_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase TTC3
- Protein Accession:
- P53804
- A8K7H7
- B2RPA7
- D3DSG9
- D3DSH2
- D3DSH3
- O60767
- P78476
- P78477
- Q569I2
- Q6P578
- Q9UEK4
Protein attributes for TTC3 Gene
- Size:
- 2025 amino acids
- Molecular mass:
- 229869 Da
- Quaternary structure:
-
- Interacts (when phosphorylated on Ser-378) with AKT1, AKT2 and AKT3 (when phosphorylated) (PubMed:20059950). Interacts with CIT (PubMed:17488780). Interacts with POLG (PubMed:29290964). Interacts with HSP70 (PubMed:29290964). Interacts with SMURF2 (PubMed:30696809).
- SequenceCaution:
-
- Sequence=AAH63033.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH92466.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
Protein Expression for TTC3 Gene
Post-translational modifications for TTC3 Gene
- Phosphorylation on Ser-378 by Akt is required for ubiquitin ligase activity.
- Proteolytically cleaved into differently sized N- and C-terminal fragments.
-
Ubiquitination at Lys53, Lys470, Lys488, and Lys629
- NX_P53804 (NX_P53804-1)
- Modification sites at PhosphoSitePlus
Other Protein References for TTC3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005261105.1
- XP_005261106.1
- XP_005261107.1
- XP_005261109.1
- XP_005261111.1
- XP_005261112.1
- XP_005261113.1
- XP_011528041.1
- XP_011528042.1
- XP_016883947.1
- XP_016883948.1
- XP_016883949.1
- XP_016883950.1
- XP_016883951.1
- XP_016883954.1
- NP_001001894.1
- NP_001307632.1
- NP_001307633.1
- NP_001317610.1
- NP_001317611.1
- NP_001317612.1
- NP_001340865.1
- NP_001340866.1
- NP_001340867.1
- NP_003307.3
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TTC3
- Novus Biologicals Antibodies for TTC3
-
Abcam antibodies for TTC3
- Invitrogen Antibodies for TTC3 (AFLGC-TTC3)
- antibodies-online: Show 3 available TTC3 Antibodies ranked by validation data
- Compare Top TTC3 Antibodies
-
Quality Products:
-
Boster Bio Antibodies for TTC3
Protein Products
-
OriGene Purified Proteins for TTC3
- Search Origene for MassSpec and Protein Over-expression Lysates for TTC3
- Origene Custom Protein Services for TTC3
- antibodies-online: Search results for available TTC3 related products ranked by validation data
No data available for DME Specific Peptides for TTC3 Gene
Domains & Families for TTC3 Gene
Gene Families for TTC3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for TTC3 Gene
- InterPro:
- Blocks:
-
- Zn-finger, RING
- ProtoNet:
Suggested Antigen Peptide Sequences for TTC3 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ59417, highly similar to Tetratricopeptide repeat protein 3 (B4DSZ9_HUMAN)
- Hypothetical rhabdomyosarcoma antigen MU-RMS-40.11C (Q5GIT6_HUMAN)
- Tetratricopeptide repeat protein 3 (TTC3_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TTC3 Gene
Function for TTC3 Gene
Molecular function for TTC3 Gene
- UniProtKB/Swiss-Prot Function:
- E3 ubiquitin-protein ligase which catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:20059950, PubMed:30696809). Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus (PubMed:20059950). Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation (PubMed:20059950). Positively regulates TGFB1-induced epithelial-mesenchymal transition and myofibroblast differentiation by mediating the ubiquitination and subsequent degradation of SMURF2 (PubMed:30696809). Regulates neuronal differentiation by regulating actin remodeling and Golgi organization via a signaling cascade involving RHOA, CIT and ROCK (PubMed:17488780, PubMed:24695496). Inhibits cell proliferation (PubMed:30203323).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:20059950, ECO:0000269|PubMed:30696809};.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by TGFB1 signaling.
- GENATLAS Biochemistry:
- tetratricopeptide-repeat containing gene isoform 3,on the Down syndrome critical region,predominantly expressed in the central nervous system
Enzyme Numbers (IUBMB) for TTC3 Gene
Phenotypes From GWAS Catalog for TTC3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | IBA,IDA | 20059950 |
| GO:0005515 | protein binding | IPI | 20059950 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for TTC3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TTC3 - Select products 50% OFF >
- * TTC3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TTC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TTC3
-
Santa Cruz Biotechnology (SCBT) CRISPR for TTC3
miRNA for TTC3 Gene
- miRTarBase miRNAs that target TTC3
-
- mmu-miR-758-3p (MIRT007488)
- mmu-miR-324-3p (MIRT010772)
- mmu-miR-15a-5p (MIRT011557)
- mmu-miR-19b-3p (MIRT012352)
- mmu-miR-24-3p (MIRT013776)
- mmu-miR-181a-5p (MIRT014009)
- mmu-miR-149-5p (MIRT014542)
- hsa-miR-335-5p (MIRT017693)
- hsa-miR-877-3p (MIRT036893)
- hsa-miR-130b-5p (MIRT038304)
- hsa-miR-27a-3p (MIRT155576)
- hsa-miR-27b-3p (MIRT155580)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TTC3
- Browse OriGene Inhibitory RNA Products For TTC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC3
Clone Products
- Applied Biological Materials (abm): Clones for TTC3 - Select products 50% OFF >
- * TTC3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TTC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TTC3
Cell Line Products
-
Horizon Cell Lines for TTC3
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC3 Gene
Localization for TTC3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TTC3 Gene
- Nucleus. Cytoplasm. Golgi apparatus. Note=Nuclear localization may be dependent on the proteolytic cleavage of full length protein in the cytoplasm (PubMed:30203323). This cleavage may reveal an N-terminal nuclear localization signal, allowing N-terminal fragments to enter the nucleus (PubMed:30203323). {ECO:0000269 PubMed:30203323}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 3 |
| golgi apparatus | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Nucleoli (2)
- Nucleoplasm (2)
- Cytosol (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 20059950 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
Pathways & Interactions for TTC3 Gene
UniProtKB/Swiss-Prot P53804-TTC3_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for TTC3 Gene
Selected Interacting proteins:
P53804-TTC3_HUMAN
ENSP00000381981
for TTC3 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TTC3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006511 | ubiquitin-dependent protein catabolic process | IBA,IDA | 20059950 |
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0070936 | protein K48-linked ubiquitination | IDA | 20059950 |
No data available for Pathways by source for TTC3 Gene
Transcripts for TTC3 Gene
mRNA/cDNA for TTC3 Gene
- 10 REFSEQ mRNAs :
- 38 NCBI additional mRNA sequence :
- 25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000354749 9084 nts (view in UCSC)
- ENST00000355666 7712 nts (view in UCSC)
- ENST00000399010 2115 nts (view in UCSC)
- ENST00000399017 10363 nts (view in UCSC)
- ENST00000411496 893 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TTC3 - Select products 50% OFF >
- * TTC3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TTC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TTC3
-
Santa Cruz Biotechnology (SCBT) CRISPR for TTC3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TTC3
- Browse OriGene Inhibitory RNA Products For TTC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC3
Clone Products
- Applied Biological Materials (abm): Clones for TTC3 - Select products 50% OFF >
- * TTC3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TTC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TTC3
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
Relevant External Links for TTC3 Gene
- GeneLoc Exon Structure for
- TTC3
Expression for TTC3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Adipose (Muscoskeletal System)
This gene is overexpressed in Bone (38.3), Monocytes (13.3), Lung (8.6), and Peripheral blood mononuclear cells (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TTC3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTC3
SOURCE GeneReport for Unigene cluster for TTC3 Gene:
Hs.368214mRNA Expression by UniProt/SwissProt for TTC3 Gene:
P53804-TTC3_HUMAN
Tissue specificity:
Found in all tissues examined.
Evidence on tissue expression from TISSUES for TTC3 Gene
- Nervous system(5)
- Intestine(4.5)
- Lung(4)
- Eye(3.9)
- Kidney(3.6)
- Skin(3.4)
- Heart(2.7)
- Liver(2.7)
- Blood(2.6)
- Spleen(2.6)
- Muscle(2.5)
- Bone(2.4)
- Thyroid gland(2.3)
- Lymph node(2.3)
- Stomach(2.2)
- Bone marrow(2.2)
- Adrenal gland(2.2)
- Pancreas(2)
Primer Products
-
OriGene qPCR primer pairs for TTC3
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC3 Gene
Orthologs for TTC3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TTC3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TTC3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TTC3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ttc3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ttc3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | TTC3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TTC3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TTC3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ttc3 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100329450 30 |
|
||
| ttc3 31 |
|
OneToOne |
- Species where no ortholog for TTC3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- 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 Vase (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)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for TTC3 Gene
- ENSEMBL:
- Gene Tree for TTC3 (if available)
- TreeFam:
- Gene Tree for TTC3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TTC3: view image
Paralogs for TTC3 Gene
(1) SIMAP similar genes for TTC3 Gene using alignment to 10 proteins:
- TTC3_HUMAN
- A8MT23_HUMAN
- B4DSZ9_HUMAN
- E9PCE7_HUMAN
- E9PMP8_HUMAN
- E9PMS7_HUMAN
- H7BZ57_HUMAN
- H7C097_HUMAN
- H7C3Z1_HUMAN
- Q5GIT6_HUMAN
Pseudogenes.org Pseudogenes for TTC3 Gene
No data available for Paralogs for TTC3 Gene
Variants for TTC3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTC3 Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 709522 | Benign: not provided | 37,153,144(+) | A/G | SYNONYMOUS_VARIANT | |
| 711760 | Benign: not provided | 37,144,636(+) | A/G | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 718381 | Benign: not provided | 37,126,118(+) | T/C | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 718889 | Benign: not provided | 37,195,684(+) | G/A | MISSENSE_VARIANT | |
| 720826 | Benign: not provided | 37,197,573(+) | T/C | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv70n68 | CNV | gain | 17160897 |
| esv2723398 | CNV | deletion | 23290073 |
| esv3406011 | CNV | insertion | 20981092 |
| esv3575389 | CNV | gain | 25503493 |
| nsv1066107 | CNV | loss | 25217958 |
| nsv1123558 | CNV | deletion | 24896259 |
| nsv1136634 | CNV | deletion | 24896259 |
| nsv1139021 | CNV | deletion | 24896259 |
| nsv1139022 | CNV | deletion | 24896259 |
| nsv1152243 | CNV | duplication | 26484159 |
| nsv3510 | CNV | insertion | 18451855 |
| nsv3511 | CNV | insertion | 18451855 |
| nsv3512 | CNV | deletion | 18451855 |
| nsv819934 | CNV | gain | 19587683 |
Residual Variation Intolerance Score:
1.46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.11;
87.72% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TTC3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC3 Gene
Disorders for TTC3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| down syndrome |
|
|
| cataract 4, multiple types |
|
|
| loeys-dietz syndrome 2 |
|
|
| cataract 34, multiple types |
|
|
| lens disease |
|
|
Search TTC3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TTC3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for TTC3 Gene
Publications for TTC3 Gene
- Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2. (PMID: 8947847) Tsukahara F … Sakaki Y (Journal of biochemistry 1996) 2 3 4 23
- TTC3 contributes to TGF-β1-induced epithelial-mesenchymal transition and myofibroblast differentiation, potentially through SMURF2 ubiquitylation and degradation. (PMID: 30696809) Kim JH … Lee YS (Cell death & disease 2019) 3 4
- Tetratricopeptide repeat domain 3 overexpression tends to form aggregates and inhibit ubiquitination and degradation of DNA polymerase γ. (PMID: 29290964) Gong Y … Dou F (Oncotarget 2017) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Digital quantification of human eye color highlights genetic association of three new loci. (PMID: 20463881) Liu F … Kayser M (PLoS genetics 2010) 3 41
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Products for TTC3 Gene
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Sources for TTC3 Gene
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