RAB5B

Gene Information
 
Gene Symbol
RAB5B
 
Aliases
-
 
Entrez Gene ID
 
Gene Name
RAB5B, member RAS oncogene family
 
Chromosomal Location
12q13.2
 
HGNC ID
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
Downstream Sequence Functional Significance References
rs1045435
3`UTR region 31036605
rs11550558
3`UTR region 31036605
rs705700
3`UTR region 31036605
rs11171718
3`UTR region 31036605

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006886 Biological process Intracellular protein transport IBA 21873635
GO:0006897 Biological process Endocytosis IBA 21873635
GO:0019882 Biological process Antigen processing and presentation IMP 19717423
GO:0030100 Biological process Regulation of endocytosis IBA 21873635
GO:0032482 Biological process Rab protein signal transduction IBA 21873635
Protein Information
 
Protein Name
Ras-related protein Rab-5B
 
Function
Protein transport. Probably involved in vesicular traffic (By similarity).
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00071 Ras
Pathways
 
KEGG
 
Reactome
 

Ras signaling pathway
Endocytosis
Phagosome
Vasopressin-regulated water reabsorption
Amoebiasis
Tuberculosis

 

Neutrophil degranulation
TBC/RABGAPs
Clathrin-mediated endocytosis
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs

Interactions
 
STRING MINT IntAct
ENSP00000478927 P46937 P46937
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Diabetes Mellitus
Neoplasms
Colorectal Cancer
Rectal Neoplasms
Skin Cancer
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
LHCGR, THADA, DENND1A, FSHR, c9orf3, YAP1,SUOX, HMGA2, TOX3, INSR, SUMO1P1 
PCOS 
rs705702 
Rotterdam criteria 
Related 
703 DutchPCOSpatients and 2164 Dutch controls, 2254 Chinese PCOS patients, 2618 US PCOS patients 
GWAS study showed an association of RAB5B variant with PCOS 
 
PCOS 
 
NIH criteria 
Related 
5 subjects (22 cases and 13 controls) 
Alterations in gene expression in the LHCGR,RAB5Band INSR regions suggest that SNPs in these loci may be functional and could affect gene expression directly or indirectly via epigenetic alterations in PCOS women. 
 
PCOS 
 
 
Related 
 
This study proposes that these candidates comprise a hierarchical signaling network by which DENND1A, LHCGR, INSR,RAB5B, adapter proteins, and associated downstream signaling cascades converge to regulate theca cell androgen biosynthesis. 
LHCGR, THADA, FSHR, KHDRBS3, YAP1andTOX3 
hyperandrogenemia, menstruation number/year and polycystic ovary morphology 
rs705704 
 
Direct 
862 women with PCOS and 860 controls in the Korean population 
The GRS was higher in women with PCOS than in controls (8.8 versus 8.2, P < 0.01) and was significantly associated with PCOS after adjusting for age and BMI 

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