RBM28 (RNA binding motif protein 28)

2014-11-01  

Identity

HGNC
RBM28
LOCATION
7q32.1
LOCUSID
55131
ALIAS
ANES
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55131
MIM: 612074
HGNC: 21863
Ensembl: ENSG00000106344

Variants:

dbSNP: 55131
ClinVar: 55131
TCGA: ENSG00000106344
COSMIC: RBM28

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106344ENST00000223073Q9NW13
ENSG00000106344ENST00000223073A0A024R753
ENSG00000106344ENST00000415472Q9NW13
ENSG00000106344ENST00000459726C9JE21
ENSG00000106344ENST00000478061C9JAA9
ENSG00000106344ENST00000487602H7C5G8

Expression (GTEx)

0
5
10
15
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
184395472008Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.26
170811192006Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs.10
202313662010ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.4
259397132015RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.3
270779512016The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome.2

Citation

Dessen P

RBM28 (RNA binding motif protein 28)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72521/rbm28