RAB5B: Polycystic Ovarian Syndrome Database

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RAB5B

Gene Information

SNPs

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

RAB5B

Aliases

Entrez Gene ID

5869

Gene Name

RAB5B, member RAS oncogene family

Chromosomal Location

12q13.2

HGNC ID

HGNC:9784

e!Ensembl

Gene	ENSG00000111540
Transcript	ENST00000553116, ENST00000360299, ENST00000549505, ENST00000548068, ENST00000549915, ENST00000551459, ENST00000448789, ENST00000628569
Protein	ENSP00000450168, ENSP00000353444, ENSP00000450285, ENSP00000447895, ENSP00000449762, ENSP00000449554, ENSP00000391319, ENSP00000487368

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)

Show/Hide all(19 )

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
GO:0048227	Biological process	Plasma membrane to endosome transport	IMP	17562788
GO:0005768	Cellular component	Endosome	IBA	21873635
GO:0005768	Cellular component	Endosome	IDA	10491193
GO:0005769	Cellular component	Early endosome	IBA	21873635
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0016020	Cellular component	Membrane	TAS	1541686
GO:0030139	Cellular component	Endocytic vesicle	IBA	21873635
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070062	Cellular component	Extracellular exosome	IDA	15326289
GO:0003924	Molecular function	GTPase activity	IBA	21873635
GO:0003924	Molecular function	GTPase activity	IDA	17562788
GO:0005515	Molecular function	Protein binding	IPI	10491193, 17562788, 18445495, 25605758, 27314038
GO:0019003	Molecular function	GDP binding	IDA	20937701
GO:0030742	Molecular function	GTP-dependent protein binding	IDA	10491193

Protein Information

Protein Name

Ras-related protein Rab-5B

Function

Protein transport. Probably involved in vesicular traffic (By similarity).

UniProt

P61020

PDB

2HEI

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

Show/Hide all(2 )

Disease group	Disease Name	References
Endocrine System Diseases
	PCOS	30566500, 24106282, 28068351, 25904635, 26305227
	Diabetes Mellitus	26975253
Neoplasms
	Colorectal Cancer	30511962
	Rectal Neoplasms	27225591
	Skin Cancer	11748642

References

Show/Hide all(4)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
24106282	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
26305227		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.
25600292		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.
26573528	LHCGR, THADA, FSHR, KHDRBS3, YAP1�and�TOX3	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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