TBC1D32 (TBC1 domain family member 32)

2014-11-01  

Identity

HGNC
TBC1D32
LOCATION
6q22.31
LOCUSID
221322
ALIAS
BROMI,C6orf170,C6orf171
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 221322
MIM: 615867
HGNC: 21485
Ensembl: ENSG00000146350

Variants:

dbSNP: 221322
ClinVar: 221322
TCGA: ENSG00000146350
COSMIC: TBC1D32

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146350ENST00000275159Q96NH3
ENSG00000146350ENST00000398212Q96NH3
ENSG00000146350ENST00000422369A2A304
ENSG00000146350ENST00000464622Q96NH3
ENSG00000146350ENST00000509492H0YBP0

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
N/A

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712563BisphosphonatesChemicalClinicalAnnotationassociatedPD
PA445187OsteonecrosisDiseaseClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
201595942010Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction.44
242855662014Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.34
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

TBC1D32 (TBC1 domain family member 32)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74530/tbc1d32