RAB5B (RAB5B, member RAS oncogene family)

2003-02-01  

Identity

HGNC
RAB5B
LOCATION
12q13.2
LOCUSID
5869
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5869
MIM: 179514
HGNC: 9784
Ensembl: ENSG00000111540

Variants:

dbSNP: 5869
ClinVar: 5869
TCGA: ENSG00000111540
COSMIC: RAB5B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111540ENST00000360299P61020
ENSG00000111540ENST00000360299A0A024RB09
ENSG00000111540ENST00000548068F8VUA5
ENSG00000111540ENST00000549505F8VPW9
ENSG00000111540ENST00000549915F8VWZ7
ENSG00000111540ENST00000551459F8VVZ0
ENSG00000111540ENST00000553116P61020
ENSG00000111540ENST00000553116A0A024RB09
ENSG00000111540ENST00000628569F8VPW9

Expression (GTEx)

0
50
100
150
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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Vasopressin-regulated water reabsorptionKEGGko04962
Vasopressin-regulated water reabsorptionKEGGhsa04962
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
Ras signaling pathwayKEGGhsa04014
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Neutrophil degranulationREACTOMER-HSA-6798695
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198
TBC/RABGAPsREACTOMER-HSA-8854214
RAB geranylgeranylationREACTOMER-HSA-8873719

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
364237782023Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome.2
378827572023hsa_circRNA_BECN1 acts as a ceRNA to promote polycystic ovary syndrome progression by sponging the miR-619-5p/Rab5b axis.0
364237782023Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome.2
378827572023hsa_circRNA_BECN1 acts as a ceRNA to promote polycystic ovary syndrome progression by sponging the miR-619-5p/Rab5b axis.0
351216582022A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.5
351216582022A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.5
310366052019Association of single nucleotide polymorphisms in the RAB5B gene 3'UTR region with polycystic ovary syndrome in Chinese Han women.5
311182602019Small Interfering RNA Screening for the Small GTPase Rab Proteins Identifies Rab5B as a Major Regulator of Hepatitis B Virus Production.13
310366052019Association of single nucleotide polymorphisms in the RAB5B gene 3'UTR region with polycystic ovary syndrome in Chinese Han women.5
311182602019Small Interfering RNA Screening for the Small GTPase Rab Proteins Identifies Rab5B as a Major Regulator of Hepatitis B Virus Production.13
297468652018MiR-130a-3p inhibits migration and invasion by regulating RAB5B in human breast cancer stem cell-like cells.58
297468652018MiR-130a-3p inhibits migration and invasion by regulating RAB5B in human breast cancer stem cell-like cells.58
256057582015An early endosome regulator, Rab5b, is an LRRK2 kinase substrate.47
256057582015An early endosome regulator, Rab5b, is an LRRK2 kinase substrate.47
241062822013Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome.51

Citation

Dessen P

RAB5B (RAB5B, member RAS oncogene family)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42002/cancer-prone-explorer/favicon/favicon-16x16.png