• Gene id: 390

Gene Summary

• Gene Symbol: RND3   Gene   UCSC   Ensembl
• Aliases: ARHE, Rho8, RhoE, memB
• Gene name: Rho family GTPase 3
• Alternate names: rho-related GTP-binding protein RhoE, protein MemB, ras homolog gene family, member E, rho-related GTP-binding protein Rho8, small GTP binding protein Rho8,
• Gene location: 2q23.3 (31617688: 31632517)     Exons: 9     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Mult
• OMIM: 602924

SNPs

rs4934540

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.35185771T>A
NC_000010.11   g.35185771T>C
NC_000010.10   g.35474699T>A
NC_000010.10   g.35474699T>C
NG_029065.1   g.63899T>A
NG_029065.1   g.63899T>C|SEQ=[T/A/C]|GENE=CREM

rs2295415

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.35212510A>G
NC_000010.10   g.35501438A>G
NG_029065.1   g.90638A>G
NM_183013.3   c.*1112A>G
NM_183013.2   c.*1112A>G
NM_181571.3   c.*707A>G
NM_181571.2   c.*707A>G
NM_182769.3   c.*707A>G
NM_182769.2   c.*707A>G
NM_182770.3   c.*707A>G
NM_182770.2   c.*70

Protein Summary

• Protein general information: P61587  
  • Name: Rho related GTP binding protein RhoE (Protein MemB) (Rho family GTPase 3) (Rho related GTP binding protein Rho8) (Rnd3)
  • Length: 244  
  • Mass: 27368
  • Tissue specificity: Ubiquitous.
• Sequence:

  MKERRASQKLSSKSIMDPNQNVKCKIVVVGDSQCGKTALLHVFAKDCFPENYVPTVFENYTASFEIDTQRIELSL
  WDTSGSPYYDNVRPLSYPDSDAVLICFDISRPETLDSVLKKWKGEIQEFCPNTKMLLVGCKSDLRTDVSTLVELS
  NHRQTPVSYDQGANMAKQIGAATYIECSALQSENSVRDIFHVATLACVNKTNKNVKRNKSQRATKRISHMPSRPE
  LSAVATDLRKDKAKSCTVM

• Structural information:
  • Interpro: IPR027417  IPR041843  IPR005225  IPR001806  IPR003578  
  • Prosite: PS51420
  • CDD: cd04172
  • PDB: 1M7B 2V55 4BG6
  • PDBsum: 1M7B 2V55 4BG6
  • STRING: ENSP00000364886
• Other Databases: GeneCards:  RND3  Malacards:  RND3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0005525	GTP binding	IBA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0005525	GTP binding	TAS	molecular function
GO:0007155	cell adhesion	TAS	biological process
GO:0030036	actin cytoskeleton organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R