RAB28 (RAB28, member RAS oncogene family)

2003-12-01  

Identity

HGNC
RAB28
LOCATION
4p15.33
LOCUSID
9364
ALIAS
CORD18
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9364
MIM: 612994
HGNC: 9768
Ensembl: ENSG00000157869

Variants:

dbSNP: 9364
ClinVar: 9364
TCGA: ENSG00000157869
COSMIC: RAB28

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157869ENST00000288723P51157
ENSG00000157869ENST00000330852P51157
ENSG00000157869ENST00000338176P51157
ENSG00000157869ENST00000504644H0Y927
ENSG00000157869ENST00000508274Q8WVF3
ENSG00000157869ENST00000510528H0Y9G4
ENSG00000157869ENST00000511649H0Y9S6
ENSG00000157869ENST00000630951Q8WVF3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
378699552023The roles of Klotho and FGF-23 in bipolar manic episode.0
378699552023The roles of Klotho and FGF-23 in bipolar manic episode.0
320842712020A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.6
333965232020Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.5
320842712020A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.6
333965232020Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.5
283882612017A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.9
283882612017A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.9
253565322015New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.21
253565322015New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.21
237465462013Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.53
237465462013Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.53
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
190266412008Large nucleotide-dependent conformational change in Rab28.13

Citation

Dessen P

RAB28 (RAB28, member RAS oncogene family)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41974/css/favicon/js/lib/all.min.js