RAB28 (RAB28, member RAS oncogene family)

2003-12-01 Affiliation

Identity

HGNC

RAB28

LOCATION

4p15.33

LOCUSID

9364

ALIAS

CORD18

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000157869	ENST00000288723	P51157
ENSG00000157869	ENST00000330852	P51157
ENSG00000157869	ENST00000338176	P51157
ENSG00000157869	ENST00000504644	H0Y927
ENSG00000157869	ENST00000508274	Q8WVF3
ENSG00000157869	ENST00000510528	H0Y9G4
ENSG00000157869	ENST00000511649	H0Y9S6
ENSG00000157869	ENST00000630951	Q8WVF3

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
37869955	2023	The roles of Klotho and FGF-23 in bipolar manic episode.	0
37869955	2023	The roles of Klotho and FGF-23 in bipolar manic episode.	0
32084271	2020	A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.	6
33396523	2020	Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.	5
32084271	2020	A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.	6
33396523	2020	Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.	5
28388261	2017	A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.	9
28388261	2017	A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.	9
25356532	2015	New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.	21
25356532	2015	New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.	21
23746546	2013	Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.	53
23746546	2013	Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.	53
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
19026641	2008	Large 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/favicon/favicon/meetings/