TBC1D22A (TBC1 domain family member 22A)

2016-10-01  

Identity

HGNC
TBC1D22A
LOCATION
22q13.31
LOCUSID
25771
ALIAS
C22orf4,HSC79E021
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25771
MIM: 616879
HGNC: 1309
Ensembl: ENSG00000054611

Variants:

dbSNP: 25771
ClinVar: 25771
TCGA: ENSG00000054611
COSMIC: TBC1D22A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000054611ENST00000337137Q8WUA7
ENSG00000054611ENST00000355704Q8WUA7
ENSG00000054611ENST00000380995A0A0A0MRY0
ENSG00000054611ENST00000394449F8WDP1
ENSG00000054611ENST00000406733Q8WUA7
ENSG00000054611ENST00000407381B0QYI1
ENSG00000054611ENST00000441162Q8WUA7
ENSG00000054611ENST00000441936F8WBF7

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
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
235725522013ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding.21
181864642008First crystallographic models of human TBC domains in the context of a family-wide structural analysis.7
235267462014Genome-wide linkage and regional association study of obesity-related phenotypes: the GenSalt study.1

Citation

Dessen P

TBC1D22A (TBC1 domain family member 22A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56009/tbc1d22a