TTC3 (tetratricopeptide repeat domain 3)

2014-11-01 Affiliation

Identity

HGNC

TTC3

LOCATION

21q22.13

LOCUSID

7267

ALIAS

DCRR1,RNF105,TPRDIII

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000182670	ENST00000354749	P53804
ENSG00000182670	ENST00000355666	P53804
ENSG00000182670	ENST00000399010	A8MT23
ENSG00000182670	ENST00000399017	P53804
ENSG00000182670	ENST00000411496	H7BZ57
ENSG00000182670	ENST00000414818	H7C3Z1
ENSG00000182670	ENST00000418766	E9PMP8
ENSG00000182670	ENST00000428693	H7C097
ENSG00000182670	ENST00000438055	E9PCE7
ENSG00000182670	ENST00000450533	E9PMS7
ENSG00000182670	ENST00000540756	B4DSZ9

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
37677864	2023	An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.	0
37677864	2023	An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.	0
33638766	2022	TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment.	8
33638766	2022	TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment.	8
33626494	2021	Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.	5
33626494	2021	Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.	5
30203323	2019	Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and Form Aggregates in the Nucleus.	4
30696809	2019	TTC3 contributes to TGF-β(1)-induced epithelial-mesenchymal transition and myofibroblast differentiation, potentially through SMURF2 ubiquitylation and degradation.	19
30203323	2019	Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and Form Aggregates in the Nucleus.	4
30696809	2019	TTC3 contributes to TGF-β(1)-induced epithelial-mesenchymal transition and myofibroblast differentiation, potentially through SMURF2 ubiquitylation and degradation.	19
27586445	2016	An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome.	32
27586445	2016	An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome.	32
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20059950	2009	The 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/gene-explorer/css/gene-fusions-explorer/