SBDS (SBDS ribosome maturation factor)

2004-03-01  

Identity

HGNC
SBDS
LOCATION
7q11.21
LOCUSID
51119
ALIAS
CGI-97,SDO1,SDS,SWDS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51119
MIM: 607444
HGNC: 19440
Ensembl: ENSG00000126524

Variants:

dbSNP: 51119
ClinVar: 51119
TCGA: ENSG00000126524
COSMIC: SBDS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126524ENST00000246868Q9Y3A5
ENSG00000126524ENST00000246868A0A0S2Z5I7
ENSG00000126524ENST00000414306F8WE72
ENSG00000126524ENST00000617799A0A087X020

Expression (GTEx)

0
100
200
300
400
500
600
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

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008

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
124967572003Mutations in SBDS are associated with Shwachman-Diamond syndrome.187
124967572003Mutations in SBDS are associated with Shwachman-Diamond syndrome.187
264791982015Mechanism of eIF6 release from the nascent 60S ribosomal subunit.56
158606642005The Shwachman-Diamond SBDS protein localizes to the nucleolus.37
152841092004Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.34
223711832012Impaired expression of DICER, DROSHA, SBDS and some microRNAs in mesenchymal stromal cells from myelodysplastic syndrome patients.34
231152722012Impaired ribosomal subunit association in Shwachman-Diamond syndrome.26
196024842009Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.24
157698912005Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.22
191481332009The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.21

Citation

Dessen P

SBDS (SBDS ribosome maturation factor)

Atlas Genet Cytogenet Oncol Haematol. 2004-03-01

Online version: http://atlasgeneticsoncology.org/gene/42207/sbds