TBC1D23 (TBC1 domain family member 23)

2003-12-01  

Identity

HGNC
TBC1D23
LOCATION
3q12.1
LOCUSID
55773
ALIAS
NS4ATP1,PCH11
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55773
MIM: 617687
HGNC: 25622
Ensembl: ENSG00000036054

Variants:

dbSNP: 55773
ClinVar: 55773
TCGA: ENSG00000036054
COSMIC: TBC1D23

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000036054ENST00000344949Q9NUY8
ENSG00000036054ENST00000394144Q9NUY8
ENSG00000036054ENST00000471098C9IZ32
ENSG00000036054ENST00000475134E9PGE5
ENSG00000036054ENST00000485687C9JAM5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
288237072017Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.15
290841972017TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi.13
288237062017Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.12
316241252019Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH.4

Citation

Dessen P

TBC1D23 (TBC1 domain family member 23)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40590/tbc1d23