• Gene id: 398

Gene Summary

• Gene Symbol: ARHGDIG   Gene   UCSC   Ensembl
• Aliases: RHOGDI-3
• Gene name: Rho GDP dissociation inhibitor gamma
• Alternate names: rho GDP-dissociation inhibitor 3, Rho GDP dissociation inhibitor (GDI) gamma, RhoGDI gamma, rho GDI 3, rho-GDI gamma,
• Gene location: 16p13.3 (280590: 283009)     Exons: 6     NC_000016.10
• Gene summary(Entrez): The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010]
• OMIM: 608766

SNPs

rs397515392

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

NC_000003.12   g.180661860C>G
NC_000003.11   g.180379648C>G
NG_029581.1   g.22636G>C|SEQ=[C/G]|GENE=CCDC39

rs1805388

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

NC_000013.11   g.108211243G>A
NC_000013.10   g.108863591G>A
NG_007396.1   g.9292C>T
NM_002312.3   c.26C>T
NM_001352599.2   c.26C>T
NM_001352599.1   c.26C>T
NM_001352598.2   c.26C>T
NM_001352598.1   c.26C>T
NM_001352600.2   c.26C>T
NM_001352600.1   c.26C>T
NM_001352601.2  

Protein Summary

• Protein general information: Q99819  
  • Name: Rho GDP dissociation inhibitor 3 (Rho GDI 3) (Rho GDI gamma)
  • Length: 225  
  • Mass: 25098
  • Tissue specificity: Primarily expressed in pancreas and brain.
• Sequence:

  MLGLDACELGAQLLELLRLALCARVLLADKEGGPPAVDEVLDEAVPEYRAPGRKSLLEIRQLDPDDRSLAKYKRV
  LLGPLPPAVDPSLPNVQVTRLTLLSEQAPGPVVMDLTGDLAVLKDQVFVLKEGVDYRVKISFKVHREIVSGLKCL
  HHTYRRGLRVDKTVYMVGSYGPSAQEYEFVTPVEEAPRGALVRGPYLVVSLFTDDDRTHHLSWEWGLCICQDWKD

• Structural information:
  • Interpro: IPR014756  IPR000406  IPR024792  
  • STRING: ENSP00000219409
• Other Databases: GeneCards:  ARHGDIG  Malacards:  ARHGDIG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005094	Rho GDP-dissociation inhibitor activity	TAS	molecular function
GO:0007162	negative regulation of cell adhesion	TAS	biological process
GO:0007266	Rho protein signal transduction	TAS	biological process
GO:0031410	cytoplasmic vesicle	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	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:0001835	blastocyst hatching	IEA	biological process
GO:0005092	GDP-dissociation inhibitor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0030695	GTPase regulator activity	IEA	molecular function
GO:0032880	regulation of protein localization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	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:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0048365	Rac GTPase binding	IBA	molecular function
GO:0005094	Rho GDP-dissociation inhibitor activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0007266	Rho protein signal transduction	IBA	biological process
GO:0005094	Rho GDP-dissociation inhibitor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04722	Neurotrophin signaling pathway
hsa04962	Vasopressin-regulated water reabsorption

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq