RAB5B

Gene Information
 
Gene Symbol
RAB5B
 
Entrez Gene ID
 
Gene Name
RAB5B, member RAS oncogene family
 
Chromosomal Location
12q13
 
HGNC ID
 
Summary
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006184 Biological process GTP catabolic process TAS 1541686
GO:0019882 Biological process Antigen processing and presentation IMP 19717423
GO:0005768 Cellular component Endosome IDA 10491193
GO:0016020 Cellular component Membrane TAS 1541686
GO:0070062 Cellular component Extracellular vesicular exosome IDA 15326289
Protein Information
 
Protein Name
 
Function
Protein transport. Probably involved in vesicular traffic (By similarity)
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00071 Ras
 
KEGG
 
OMIM

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 24106282
   
References
 
Primary:

Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome.

Louwers Yvonne V, Stolk Lisette, Uitterlinden Andre G, Laven Joop S E
MD, Department of Gynecology and Obstetrics, Room Na-1524, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. y.louwers@erasmusmc.nl.
J Clin Endocrinol Metab. 2013 Dec;98(12):E2006-12. doi: 10.1210/jc.2013-2495.
 
Supporting Literature:
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 Dutch PCOS patients 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, RAB5B and 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. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25904635, PMC4498224
Han Chinese polycystic ovary syndrome risk variants in women of European ancestry: relationship to FSH levels and glucose tolerance. 
Clinical study 

 

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