TTC3 (tetratricopeptide repeat domain 3)

2014-11-01  

Identity

HGNC
TTC3
LOCATION
21q22.13
LOCUSID
7267
ALIAS
DCRR1,RNF105,TPRDIII
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7267
MIM: 602259
HGNC: 12393
Ensembl: ENSG00000182670

Variants:

dbSNP: 7267
ClinVar: 7267
TCGA: ENSG00000182670
COSMIC: TTC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182670ENST00000354749P53804
ENSG00000182670ENST00000355666P53804
ENSG00000182670ENST00000399010A8MT23
ENSG00000182670ENST00000399017P53804
ENSG00000182670ENST00000411496H7BZ57
ENSG00000182670ENST00000414818H7C3Z1
ENSG00000182670ENST00000418766E9PMP8
ENSG00000182670ENST00000428693H7C097
ENSG00000182670ENST00000438055E9PCE7
ENSG00000182670ENST00000450533E9PMS7
ENSG00000182670ENST00000540756B4DSZ9

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376778642023An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.0
376778642023An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.0
336387662022TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment.8
336387662022TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment.8
336264942021Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.5
336264942021Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.5
302033232019Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and Form Aggregates in the Nucleus.4
306968092019TTC3 contributes to TGF-β(1)-induced epithelial-mesenchymal transition and myofibroblast differentiation, potentially through SMURF2 ubiquitylation and degradation.19
302033232019Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and Form Aggregates in the Nucleus.4
306968092019TTC3 contributes to TGF-β(1)-induced epithelial-mesenchymal transition and myofibroblast differentiation, potentially through SMURF2 ubiquitylation and degradation.19
275864452016An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome.32
275864452016An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome.32
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
200599502009The E3 ligase TTC3 facilitates ubiquitination and degradation of phosphorylated Akt.75

Citation

Dessen P

TTC3 (tetratricopeptide repeat domain 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75282/case-report-explorer/css/gene-fusions/?id=75282