FAM53B (family with sequence similarity 53 member B)

2014-11-01  

Identity

HGNC
FAM53B
LOCATION
10q26.13
LOCUSID
9679
ALIAS
KIAA0140,bA12J10.2,smp
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9679
MIM: 617289
HGNC: 28968
Ensembl: ENSG00000189319

Variants:

dbSNP: 9679
ClinVar: 9679
TCGA: ENSG00000189319
COSMIC: FAM53B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189319ENST00000280780Q14153
ENSG00000189319ENST00000337318Q14153
ENSG00000189319ENST00000392754Q14153

Expression (GTEx)

0
10
20
30
40
50
60
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
239589622014Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.76
197273422009Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice.54

Citation

Dessen P

FAM53B (family with sequence similarity 53 member B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63209/fam53b