TTI2 (TELO2 interacting protein 2)

2014-11-01  

Identity

HGNC
TTI2
LOCATION
8p12
LOCUSID
80185
ALIAS
C8orf41,MRT39

Other Information

Locus ID:

NCBI: 80185
MIM: 614426
HGNC: 26262
Ensembl: ENSG00000129696

Variants:

dbSNP: 80185
ClinVar: 80185
TCGA: ENSG00000129696
COSMIC: TTI2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129696ENST00000360742Q6NXR4
ENSG00000129696ENST00000431156Q6NXR4
ENSG00000129696ENST00000520636E5RIH5
ENSG00000129696ENST00000523305E5RHM7
ENSG00000129696ENST00000613904Q6NXR4

Expression (GTEx)

0
5
10
15
20
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
208106502010A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.87
239561772013Mutation in TTI2 reveals a role for triple T complex in human brain development.10

Citation

Dessen P

TTI2 (TELO2 interacting protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75306/tti2