Gene id |
398 |
Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed |
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 |
|
Other Databases |
GeneCards: ARHGDIG Malacards: ARHGDIG |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005094 |
Rho GDP-dissociation inhi bitor activity
|
TAS |
molecular function |
GO:0007162 |
negative regulation of ce ll adhesion
|
TAS |
biological process |
GO:0007266 |
Rho protein signal transd uction
|
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 GTPas e mediated signal transdu ction
|
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 inhibito r activity
|
IEA |
molecular function |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0030695 |
GTPase regulator activity
|
IEA |
molecular function |
GO:0032880 |
regulation of protein loc alization
|
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 a ctivity
|
IEA |
biological process |
GO:0050790 |
regulation of catalytic a ctivity
|
IEA |
biological process |
GO:0050790 |
regulation of catalytic a ctivity
|
IEA |
biological process |
GO:0050790 |
regulation of catalytic a ctivity
|
IEA |
biological process |
GO:0043547 |
positive regulation of GT Pase activity
|
IEA |
biological process |
GO:0016020 |
membrane
|
IBA |
cellular component |
GO:0048365 |
Rac GTPase binding
|
IBA |
molecular function |
GO:0005094 |
Rho GDP-dissociation inhi bitor activity
|
IBA |
molecular function |
GO:0005829 |
cytosol
|
IBA |
cellular component |
GO:0007266 |
Rho protein signal transd uction
|
IBA |
biological process |
GO:0005094 |
Rho GDP-dissociation inhi bitor activity
|
IEA |
molecular function |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005096 |
GTPase activator activity
|
IEA |
molecular function |
|
|
Pathway id | Pathway name |
hsa04722 | Neurotrophin signaling pathway | hsa04962 | Vasopressin-regulated water reabsorption | |
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|