• Gene id: 397

Gene Summary

• Gene Symbol: ARHGDIB   Gene   UCSC   Ensembl
• Aliases: D4, GDIA2, GDID4, LYGDI, Ly-GDI, RAP1GN1, RhoGDI2
• Gene name: Rho GDP dissociation inhibitor beta
• Alternate names: rho GDP-dissociation inhibitor 2, Rho GDI 2, Rho GDP dissociation inhibitor (GDI) beta, rho-GDI beta,
• Gene location: 12p12.3 (14961600: 14942014)     Exons: 10     NC_000012.12
• Gene summary(Entrez): Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The G
• OMIM: 610843

SNPs

rs786204822

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

NC_000019.10   g.49016546C>A
NC_000019.10   g.49016546C>G
NC_000019.9   g.49519803C>A
NC_000019.9   g.49519803C>G
NG_033041.1   g.27648C>A
NG_033041.1   g.27648C>G
NG_011464.1   g.5545G>T
NG_011464.1   g.5545G>C|SEQ=[C/A/G]|GENE=LHB

rs7371084

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

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs68073206

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

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4539842

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

NC_000002.12   g.48755625A>T
NC_000002.11   g.48982764A>T
NG_033050.2   g.230701A>T
NG_033050.1   g.230701A>T
NG_008193.2   g.5117T>A
NG_008193.1   g.5117T>A
NM_000233.4   c.47T>A
NM_000233.3   c.47T>A
NP_000224.2   p.Leu16Gln|SEQ=[A/T]|GENE=LHCGR
STON1-GTF2A1L   2

rs2293275

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

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C
  

rs4597581

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

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

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

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A
  

rs34349826

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

NC_000019.10   g.49016626A>G
NC_000019.9   g.49519883A>G
NG_033041.1   g.27728A>G
NG_011464.1   g.5465T>C
NM_000894.3   c.104T>C
NM_000894.2   c.104T>C
NP_000885.1   p.Ile35Thr|SEQ=[A/G]|GENE=LHB

rs6521

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

NC_000019.10   g.49016616G>A
NC_000019.10   g.49016616G>C
NC_000019.10   g.49016616G>T
NC_000019.9   g.49519873G>A
NC_000019.9   g.49519873G>C
NC_000019.9   g.49519873G>T
NG_033041.1   g.27718G>A
NG_033041.1   g.27718G>C
NG_033041.1   g.27718G>T
NG_011464.1   g.5475C>T
  

Protein Summary

• Protein general information: P52566  
  • Name: Rho GDP dissociation inhibitor 2 (Rho GDI 2) (Ly GDI) (Rho GDI beta)
  • Length: 201  
  • Mass: 22988
  • Tissue specificity: Detected in bone marrow, thymus and spleen. {ECO
• Sequence:

  MTEKAPEPHVEEDDDDELDSKLNYKPPPQKSLKELQEMDKDDESLIKYKKTLLGDGPVVTDPKAPNVVVTRLTLV
  CESAPGPITMDLTGDLEALKKETIVLKEGSEYRVKIHFKVNRDIVSGLKYVQHTYRTGVKVDKATFMVGSYGPRP
  EEYEFLTPVEEAPKGMLARGTYHNKSFFTDDDKQDHLSWEWNLSIKKEWTE

• Structural information:
  • Interpro: IPR014756  IPR000406  IPR024792  
  • PDB: 1DS6 5H1D
  • PDBsum: 1DS6 5H1D
  • DIP: 40959
  • STRING: ENSP00000228945
• Other Databases: GeneCards:  ARHGDIB  Malacards:  ARHGDIB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IMP	molecular function
GO:1901164	negative regulation of trophoblast cell migration	IDA	biological process
GO:0007266	Rho protein signal transduction	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0005094	Rho GDP-dissociation inhibitor activity	IBA	molecular function
GO:0048365	Rac GTPase binding	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005094	Rho GDP-dissociation inhibitor activity	IDA	molecular function
GO:0005094	Rho GDP-dissociation inhibitor activity	IDA	molecular function
GO:0048365	Rac GTPase binding	IDA	molecular function
GO:0035023	regulation of Rho protein signal transduction	IDA	biological process
GO:2000249	regulation of actin cytoskeleton reorganization	IMP	biological process
GO:0035023	regulation of Rho protein signal transduction	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
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
GO:0005094	Rho GDP-dissociation inhibitor activity	TAS	molecular function
GO:0007162	negative regulation of cell adhesion	TAS	biological process
GO:0007275	multicellular organism development	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:0016020	membrane	IEA	cellular component
GO:0071461	cellular response to redox state	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	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:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component

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
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R