• Gene id: 2665

Gene Summary

• Gene Symbol: GDI2   Gene   UCSC   Ensembl
• Aliases: HEL-S-46e, RABGDIB
• Gene name: GDP dissociation inhibitor 2
• Alternate names: rab GDP dissociation inhibitor beta, GDI-2, epididymis secretory sperm binding protein Li 46e, guanosine diphosphate dissociation inhibitor 2, rab GDI beta, rab GDP-dissociation inhibitor, beta,
• Gene location: 10p15.1 (5813548: 5765221)     Exons: 12     NC_000010.11
• Gene summary(Entrez): GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs
• OMIM: 600767

Protein Summary

• Protein general information: P50395  
  • Name: Rab GDP dissociation inhibitor beta (Rab GDI beta) (Guanosine diphosphate dissociation inhibitor 2) (GDI 2)
  • Length: 445  
  • Mass: 50663
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MNEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESASITPLEDLYKRFKIPGSPPESMGRGRDWNVD
  LIPKFLMANGQLVKMLLYTEVTRYLDFKVTEGSFVYKGGKIYKVPSTEAEALASSLMGLFEKRRFRKFLVYVANF
  DEKDPRTFEGIDPKKTTMRDVYKKFDLGQDVIDFTGHALALYRTDDYLDQPCYETINRIKLYSESLARYGKSPYL
  YPLYGLGELPQGFARLSAIYGGTYMLNKPIEEIIVQNGKVIGVKSEGEIARCKQLICDPSYVKDRVEKVGQVIRV
  ICILSHPIKNTNDANSCQIIIPQNQVNRKSDIYVCMISFAHNVAAQGKYIAIVSTTVETKEPEKEIRPALELLEP
  IEQKFVSISDLLVPKDLGTESQIFISRTYDATTHFETTCDDIKNIYKRMTGSEFDFEEMKRKKNDIYGED

• Structural information:
  • Interpro: IPR036188  IPR018203  IPR000806  
  • DIP: 50593
  • STRING: ENSP00000369538
• Other Databases: GeneCards:  GDI2  Malacards:  GDI2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005093	Rab GDP-dissociation inhibitor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005092	GDP-dissociation inhibitor activity	IEA	molecular function
GO:0005093	Rab GDP-dissociation inhibitor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005093	Rab GDP-dissociation inhibitor activity	TAS	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	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:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0031267	small GTPase binding	IEA	molecular function
GO:0005093	Rab GDP-dissociation inhibitor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031982	vesicle	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Down syndrome	PMID:11771757
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq