TTC39B (tetratricopeptide repeat domain 39B)

2014-11-01  

Identity

HGNC
TTC39B
LOCATION
9p22.3
LOCUSID
158219
ALIAS
C9orf52
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 158219
MIM: 613574
HGNC: 23704
Ensembl: ENSG00000155158

Variants:

dbSNP: 158219
ClinVar: 158219
TCGA: ENSG00000155158
COSMIC: TTC39B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155158ENST00000297615Q5VTQ0
ENSG00000155158ENST00000380850Q5VTQ0
ENSG00000155158ENST00000506891H0YAJ6
ENSG00000155158ENST00000507285Q5VTQ0
ENSG00000155158ENST00000507993Q5VTQ0
ENSG00000155158ENST00000512701Q5VTQ0

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

References

Pubmed IDYearTitleCitations
259205522016Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.10
274533972016Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.15
259205522016Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.10
274533972016Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.15
209722502011Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.25
209722502011Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.25
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205717542010Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.31
206865652010Biological, clinical and population relevance of 95 loci for blood lipids.1894
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205717542010Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.31
206865652010Biological, clinical and population relevance of 95 loci for blood lipids.1894
190609062009Common variants at 30 loci contribute to polygenic dyslipidemia.659
190609062009Common variants at 30 loci contribute to polygenic dyslipidemia.659

Citation

Dessen P

TTC39B (tetratricopeptide repeat domain 39B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75293/ttc39b-(tetratricopeptide-repeat-domain-39b)