Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 390
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (150487694: 150468192)     Exons: 6     NC_000002.12
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. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
OMIM 602924

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: 27,368

Tissue specificity: Ubiquitous.

Sequence MKERRASQKLSSKSIMDPNQNVKCKIVVVGDSQCGKTALLHVFAKDCFPENYVPTVFENYTASFEIDTQRIELSL
WDTSGSPYYDNVRPLSYPDSDAVLICFDISRPETLDSVLKKWKGEIQEFCPNTKMLLVGCKSDLRTDVSTLVELS
NHRQTPVSYDQGANMAKQIGAATYIECSALQSENSVRDIFHVATLACVNKTNKNVKRNKSQRATKRISHMPSRPE
LSAVATDLRKDKAKSCTVM
Structural information

Motifs
Effector region.(52-60)
Interpro:  IPR027417 IPR005225 IPR001806 IPR003578
Prosite:   PS51420

Pfam:  
PF00071

PDB:  
1M7B 2V55 4BG6
PDBsum:   1M7B 2V55 4BG6
MINT:   3974781
STRING:   ENSP00000263895;
Other Databases GeneCards:  RND3;  Malacards:  RND3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000139 Golgi membrane
IEA cellular_component
GO:0003924 GTPase activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005525 GTP binding
IEA molecular_function
GO:0005925 focal adhesion
IDA cellular_component
GO:0007155 cell adhesion
TAS biological_process
GO:0007264 small GTPase mediated sig
nal transduction
IEA biological_process
GO:0030036 actin cytoskeleton organi
zation
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0000139 Golgi membrane
IEA cellular_component
GO:0000166 nucleotide binding
IEA molecular_function
GO:0003924 GTPase activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005525 GTP binding
IEA molecular_function
GO:0005525 GTP binding
IEA molecular_function
GO:0005525 GTP binding
TAS molecular_function
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007155 cell adhesion
TAS biological_process
GO:0007264 small GTPase mediated sig
nal transduction
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0030036 actin cytoskeleton organi
zation
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0003924 GTPase activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005525 GTP binding
TAS molecular_function
GO:0005925 focal adhesion
IDA cellular_component
GO:0007155 cell adhesion
TAS biological_process
GO:0030036 actin cytoskeleton organi
zation
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component

Diseases

Associated diseases References
Blood pressure PMID: 17903302
Diabetes PMID: 22238593
Endometriosis PMID: 23472165
Endometriosis INFBASE23472165
Endometriosis INFBASE16249290
Respiration disorders PMID: 17903308

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16249290 Endometrio
sis

30 (15 patients
undergoing lap
aroscopy or hys
terectomy for e
ndometriosis, 1
5 controls)
IGFBP5
PIM2
RPL41
PSAP
FBLN1
SIPL
DLX5
HSD11B2
SET
and RHOE
Show abstract
23472165 Endometrio
sis
LINC00339-WNT4 (rs2235529), RND3-RBM43 (rs1519761, rs6757804) Europea
n
16490 (2,019 su
rgically confir
med endometrios
is cases, 14,47
1 controls)
Female infertility LINC00339-WNT4
RND3-RBM43
Show abstract