ARHGDIA (Rho GDP dissociation inhibitor alpha) - Rat Genome Database

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Gene: ARHGDIA (Rho GDP dissociation inhibitor alpha) Homo sapiens
Analyze
Symbol: ARHGDIA
Name: Rho GDP dissociation inhibitor alpha
RGD ID: 1354371
HGNC Page HGNC
Description: Predicted to enable Rho GDP-dissociation inhibitor activity. Involved in regulation of Rho protein signal transduction and regulation of actin cytoskeleton reorganization. Located in extracellular exosome. Implicated in nephrotic syndrome type 8.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: epididymis secretory sperm binding protein Li 47e; GDIA1; GDP-dissociation inhibitor, aplysia RAS-related 1; HEL-S-47e; MGC117248; NPHS8; rho GDI 1; Rho GDP dissociation inhibitor (GDI) alpha; rho GDP-dissociation inhibitor 1; rho-GDI alpha; RHOGDI; RHOGDI-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381781,867,721 - 81,871,337 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1781,867,721 - 81,871,378 (-)EnsemblGRCh38hg38GRCh38
GRCh371779,825,597 - 79,829,213 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361777,418,886 - 77,422,527 (-)NCBINCBI36hg18NCBI36
Build 341777,418,886 - 77,422,527NCBI
Celera1776,429,063 - 76,432,256 (-)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1775,227,385 - 75,230,633 (-)NCBIHuRef
CHM1_11779,911,833 - 79,915,499 (-)NCBICHM1_1
T2T-CHM13v2.01782,734,886 - 82,738,502 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-naringenin  (EXP)
(Z)-3-butylidenephthalide  (EXP)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
4-hydroxynon-2-enal  (EXP)
all-trans-retinoic acid  (EXP)
ampicillin  (EXP)
arachidonic acid  (EXP)
bathocuproine disulfonic acid  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
busulfan  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
choline  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumestrol  (EXP)
CU-O LINKAGE  (ISO)
daidzein  (EXP)
decabromodiphenyl ether  (EXP)
desferrioxamine B  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
dioxygen  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
estriol  (EXP)
estrone  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
ferric ammonium citrate  (EXP)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
genistein  (EXP)
glycitein  (EXP)
heparin  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (ISO)
L-glutamic acid  (ISO)
L-methionine  (EXP,ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lovastatin  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP)
nickel atom  (EXP)
Nonylphenol  (EXP)
oxaliplatin  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraoxon  (EXP)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
progesterone  (EXP)
pyrogallol  (ISO)
pyrrolidine dithiocarbamate  (EXP)
resveratrol  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thioacetamide  (ISO)
triacsin C  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
warfarin  (ISO)
WIN 55212-2  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytoskeleton  (TAS)
cytosol  (IBA,ISO,TAS)
extracellular exosome  (HDA)
extracellular space  (ISO)
immunological synapse  (IEA)
membrane  (IBA,IEA,ISO)
nucleus  (IEA)
synapse  (ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. Role of Rho GDP dissociation inhibitor alpha in control of epithelial sodium channel (ENaC)-mediated sodium reabsorption. Pavlov TS, etal., J Biol Chem. 2014 Oct 10;289(41):28651-9. doi: 10.1074/jbc.M114.558262. Epub 2014 Aug 27.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Identification of potential therapeutic targets in hypertension-associated bladder dysfunction. Yono M, etal., BJU Int. 2010 Mar;105(6):877-83. doi: 10.1111/j.1464-410X.2009.08809.x. Epub 2009 Aug 18.
Additional References at PubMed
PMID:8262133   PMID:8491184   PMID:8504089   PMID:8889548   PMID:9186513   PMID:9194563   PMID:9195882   PMID:9287351   PMID:9490022   PMID:9681826   PMID:10346909   PMID:10489445  
PMID:10664460   PMID:10673424   PMID:10676816   PMID:10713718   PMID:10716190   PMID:10779444   PMID:11114252   PMID:11149925   PMID:11320308   PMID:11368848   PMID:11513578   PMID:11513579  
PMID:11809807   PMID:12477932   PMID:12692556   PMID:14749388   PMID:15225553   PMID:15342556   PMID:15489334   PMID:15513926   PMID:15659383   PMID:15952105   PMID:16024605   PMID:16130169  
PMID:16169070   PMID:16215275   PMID:16236267   PMID:16344560   PMID:16472651   PMID:16526095   PMID:16596196   PMID:16916647   PMID:16943322   PMID:17074770   PMID:17245428   PMID:17330946  
PMID:17353931   PMID:17653765   PMID:17909265   PMID:18070886   PMID:18524772   PMID:18651761   PMID:18702520   PMID:18723680   PMID:18768928   PMID:18992375   PMID:19056867   PMID:19211846  
PMID:19401544   PMID:19961560   PMID:20028975   PMID:20043072   PMID:20161819   PMID:20305651   PMID:20347589   PMID:20381070   PMID:20400958   PMID:20458337   PMID:20472934   PMID:20628200  
PMID:20696765   PMID:20711218   PMID:20812987   PMID:20846184   PMID:20936779   PMID:21044950   PMID:21122136   PMID:21145461   PMID:21269984   PMID:21319273   PMID:21327297   PMID:21402697  
PMID:21447808   PMID:21548210   PMID:21569526   PMID:21681778   PMID:21757538   PMID:21779026   PMID:21873635   PMID:21900206   PMID:22157745   PMID:22393046   PMID:22530308   PMID:22532870  
PMID:22586326   PMID:22628549   PMID:22668020   PMID:22939629   PMID:23283986   PMID:23358418   PMID:23376485   PMID:23406297   PMID:23434736   PMID:23533145   PMID:23563506   PMID:23867502  
PMID:23918979   PMID:23922223   PMID:23967341   PMID:24129566   PMID:24228117   PMID:24240172   PMID:24276241   PMID:24342356   PMID:24374343   PMID:24561123   PMID:24710410   PMID:24711643  
PMID:24820414   PMID:24859471   PMID:24981860   PMID:24999758   PMID:25416956   PMID:25874870   PMID:25921289   PMID:25961457   PMID:25981171   PMID:26344197   PMID:26416248   PMID:26460549  
PMID:26641092   PMID:26646181   PMID:26719334   PMID:26761212   PMID:26871637   PMID:27173435   PMID:27557508   PMID:27751915   PMID:27835684   PMID:28148498   PMID:28302793   PMID:28417530  
PMID:28581483   PMID:28697312   PMID:28772241   PMID:28775002   PMID:28986522   PMID:29059157   PMID:29128334   PMID:29229926   PMID:29307615   PMID:29467282   PMID:29509190   PMID:29872149  
PMID:29987050   PMID:30287810   PMID:30337686   PMID:30575818   PMID:30833792   PMID:30942445   PMID:30948266   PMID:31046837   PMID:31091453   PMID:31300519   PMID:31586073   PMID:31871319  
PMID:31980649   PMID:32416067   PMID:32513696   PMID:32876072   PMID:32941674   PMID:33545068   PMID:33729478   PMID:33916271   PMID:34079125   PMID:34080651   PMID:34225486   PMID:34428256  
PMID:35032548   PMID:35066091   PMID:35271311  


Genomics

Comparative Map Data
ARHGDIA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381781,867,721 - 81,871,337 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1781,867,721 - 81,871,378 (-)EnsemblGRCh38hg38GRCh38
GRCh371779,825,597 - 79,829,213 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361777,418,886 - 77,422,527 (-)NCBINCBI36hg18NCBI36
Build 341777,418,886 - 77,422,527NCBI
Celera1776,429,063 - 76,432,256 (-)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1775,227,385 - 75,230,633 (-)NCBIHuRef
CHM1_11779,911,833 - 79,915,499 (-)NCBICHM1_1
T2T-CHM13v2.01782,734,886 - 82,738,502 (-)NCBI
Arhgdia
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911120,468,925 - 120,472,450 (-)NCBIGRCm39mm39
GRCm39 Ensembl11120,468,930 - 120,472,450 (-)Ensembl
GRCm3811120,578,099 - 120,581,624 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11120,578,104 - 120,581,624 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711120,438,549 - 120,442,934 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611120,394,202 - 120,397,337 (-)NCBImm8
Celera11132,312,595 - 132,316,911 (-)NCBICelera
Cytogenetic Map11E2NCBI
Arhgdia
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.210105,854,526 - 105,858,020 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl10105,854,533 - 105,858,023 (-)Ensembl
Rnor_6.010109,754,012 - 109,757,506 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10109,754,004 - 109,757,550 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010109,347,156 - 109,350,645 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410109,967,771 - 109,971,260NCBIRGSC3.4rn4RGSC3.4
Celera10104,397,938 - 104,401,427 (-)NCBICelera
Cytogenetic Map10q32.3NCBI
Arhgdia
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555061,297,956 - 1,300,072 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555061,297,604 - 1,300,072 (+)NCBIChiLan1.0ChiLan1.0
ARHGDIA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11781,975,340 - 81,978,447 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1781,975,340 - 81,978,447 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01776,273,196 - 76,276,942 (-)NCBIMhudiblu_PPA_v0panPan3
ARHGDIA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.19419,350 - 422,284 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl9419,413 - 423,252 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha91,021,510 - 1,024,385 (+)NCBI
ROS_Cfam_1.091,012,711 - 1,015,586 (+)NCBI
ROS_Cfam_1.0 Ensembl91,012,165 - 1,078,415 (+)Ensembl
UMICH_Zoey_3.191,037,876 - 1,040,773 (+)NCBI
UNSW_CanFamBas_1.091,164,453 - 1,167,349 (+)NCBI
UU_Cfam_GSD_1.091,243,370 - 1,246,265 (+)NCBI
Arhgdia
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056021,025,305 - 1,027,650 (+)NCBI
SpeTri2.0NW_0049365945,383,370 - 5,386,618 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGDIA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl121,113,355 - 1,121,311 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1121,113,358 - 1,117,319 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ARHGDIA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11673,741,402 - 73,745,079 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1673,740,944 - 73,745,062 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607745,193,459 - 45,197,177 (-)NCBIVero_WHO_p1.0
Arhgdia
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480110,717,133 - 10,722,840 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462480110,719,987 - 10,723,263 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH16023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,825,701 - 79,825,862UniSTSGRCh37
Build 361777,418,990 - 77,419,151RGDNCBI36
Celera1776,429,167 - 76,429,328RGD
Cytogenetic Map17q25.3UniSTS
HuRef1775,227,489 - 75,227,650UniSTS
GeneMap99-GB4 RH Map17537.15UniSTS
NCBI RH Map17810.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR151Ahsa-miR-151a-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI20305651
MIR151Ahsa-miR-151a-5pOncomiRDBexternal_infoNANA20305651

Predicted Target Of
Summary Value
Count of predictions:7242
Count of miRNA genes:1032
Interacting mature miRNAs:1306
Transcripts:ENST00000269321, ENST00000400721, ENST00000541078, ENST00000578351, ENST00000579121, ENST00000580033, ENST00000580685, ENST00000581876, ENST00000582309, ENST00000582520, ENST00000582984, ENST00000583111, ENST00000583499, ENST00000583791, ENST00000583868, ENST00000584397, ENST00000584461
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1 6 1 1
Medium 2438 2990 1725 623 1948 464 4356 2194 3727 419 1459 1613 174 1 1204 2788 6 2
Low 1 1 1 3 1 3 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_125441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC137723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC145207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI391750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI751683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF343803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI755343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI768191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM552638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP325393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ674863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF132249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF132324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA433004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC406556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000269321   ⟹   ENSP00000269321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,867,721 - 81,871,337 (-)Ensembl
RefSeq Acc Id: ENST00000400721   ⟹   ENSP00000383556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,867,897 - 81,871,376 (-)Ensembl
RefSeq Acc Id: ENST00000541078   ⟹   ENSP00000441348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,868,340 - 81,870,974 (-)Ensembl
RefSeq Acc Id: ENST00000578351   ⟹   ENSP00000462323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,869,049 - 81,871,326 (-)Ensembl
RefSeq Acc Id: ENST00000579121   ⟹   ENSP00000462960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,868,506 - 81,870,664 (-)Ensembl
RefSeq Acc Id: ENST00000580033   ⟹   ENSP00000463530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,868,922 - 81,871,325 (-)Ensembl
RefSeq Acc Id: ENST00000580685   ⟹   ENSP00000464205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,868,366 - 81,870,006 (-)Ensembl
RefSeq Acc Id: ENST00000581876   ⟹   ENSP00000461956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,868,611 - 81,871,324 (-)Ensembl
RefSeq Acc Id: ENST00000582309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,869,523 - 81,870,265 (-)Ensembl
RefSeq Acc Id: ENST00000582520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,867,721 - 81,868,630 (-)Ensembl
RefSeq Acc Id: ENST00000582984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,868,870 - 81,871,337 (-)Ensembl
RefSeq Acc Id: ENST00000583111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,869,166 - 81,871,329 (-)Ensembl
RefSeq Acc Id: ENST00000583499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,869,438 - 81,871,337 (-)Ensembl
RefSeq Acc Id: ENST00000583791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,869,004 - 81,869,451 (-)Ensembl
RefSeq Acc Id: ENST00000583868   ⟹   ENSP00000462209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,868,631 - 81,871,337 (-)Ensembl
RefSeq Acc Id: ENST00000584397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,869,302 - 81,871,378 (-)Ensembl
RefSeq Acc Id: ENST00000584461   ⟹   ENSP00000463939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,868,260 - 81,871,329 (-)Ensembl
RefSeq Acc Id: NM_001185077   ⟹   NP_001172006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,867,721 - 81,870,997 (-)NCBI
GRCh371779,825,595 - 79,829,282 (-)NCBI
HuRef1775,227,385 - 75,230,633 (-)ENTREZGENE
CHM1_11779,911,831 - 79,915,086 (-)NCBI
T2T-CHM13v2.01782,734,886 - 82,738,162 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001185078   ⟹   NP_001172007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,867,721 - 81,871,337 (-)NCBI
GRCh371779,825,595 - 79,829,282 (-)NCBI
HuRef1775,227,385 - 75,230,633 (-)ENTREZGENE
CHM1_11779,911,831 - 79,915,499 (-)NCBI
T2T-CHM13v2.01782,734,886 - 82,738,502 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301240   ⟹   NP_001288169
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,867,721 - 81,871,337 (-)NCBI
CHM1_11779,911,831 - 79,915,499 (-)NCBI
T2T-CHM13v2.01782,734,886 - 82,738,502 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301241   ⟹   NP_001288170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,867,721 - 81,870,997 (-)NCBI
CHM1_11779,911,831 - 79,915,086 (-)NCBI
T2T-CHM13v2.01782,734,886 - 82,738,162 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301242   ⟹   NP_001288171
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,867,721 - 81,871,337 (-)NCBI
CHM1_11779,911,831 - 79,915,499 (-)NCBI
T2T-CHM13v2.01782,734,886 - 82,738,502 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301243   ⟹   NP_001288172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,867,721 - 81,871,337 (-)NCBI
CHM1_11779,911,831 - 79,915,499 (-)NCBI
T2T-CHM13v2.01782,734,886 - 82,738,502 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004309   ⟹   NP_004300
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,867,721 - 81,871,337 (-)NCBI
GRCh371779,825,595 - 79,829,282 (-)NCBI
Build 361777,418,886 - 77,422,527 (-)NCBI Archive
HuRef1775,227,385 - 75,230,633 (-)ENTREZGENE
CHM1_11779,911,831 - 79,915,499 (-)NCBI
T2T-CHM13v2.01782,734,886 - 82,738,502 (-)NCBI
Sequence:
RefSeq Acc Id: NR_125441
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,867,721 - 81,871,337 (-)NCBI
CHM1_11779,911,831 - 79,915,499 (-)NCBI
T2T-CHM13v2.01782,734,886 - 82,738,502 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523574   ⟹   XP_011521876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,867,721 - 81,870,997 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001172006 (Get FASTA)   NCBI Sequence Viewer  
  NP_001172007 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288169 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288170 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288171 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288172 (Get FASTA)   NCBI Sequence Viewer  
  NP_004300 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521876 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36566 (Get FASTA)   NCBI Sequence Viewer  
  AAH05851 (Get FASTA)   NCBI Sequence Viewer  
  AAH05875 (Get FASTA)   NCBI Sequence Viewer  
  AAH08701 (Get FASTA)   NCBI Sequence Viewer  
  AAH09759 (Get FASTA)   NCBI Sequence Viewer  
  AAH16031 (Get FASTA)   NCBI Sequence Viewer  
  AAH16185 (Get FASTA)   NCBI Sequence Viewer  
  AAH24258 (Get FASTA)   NCBI Sequence Viewer  
  AAH27730 (Get FASTA)   NCBI Sequence Viewer  
  AAH75827 (Get FASTA)   NCBI Sequence Viewer  
  AAI06045 (Get FASTA)   NCBI Sequence Viewer  
  AAM21074 (Get FASTA)   NCBI Sequence Viewer  
  AAP35530 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13669 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33374 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33375 (Get FASTA)   NCBI Sequence Viewer  
  BAA03096 (Get FASTA)   NCBI Sequence Viewer  
  BAG35268 (Get FASTA)   NCBI Sequence Viewer  
  BAG56694 (Get FASTA)   NCBI Sequence Viewer  
  BAG62471 (Get FASTA)   NCBI Sequence Viewer  
  CAA45344 (Get FASTA)   NCBI Sequence Viewer  
  CAA49281 (Get FASTA)   NCBI Sequence Viewer  
  CAG33058 (Get FASTA)   NCBI Sequence Viewer  
  EAW89697 (Get FASTA)   NCBI Sequence Viewer  
  EAW89698 (Get FASTA)   NCBI Sequence Viewer  
  P52565 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001172006   ⟸   NM_001185077
- Peptide Label: isoform a
- UniProtKB: P52565 (UniProtKB/Swiss-Prot),   V9HWE8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001172007   ⟸   NM_001185078
- Peptide Label: isoform b
- UniProtKB: P52565 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004300   ⟸   NM_004309
- Peptide Label: isoform a
- UniProtKB: P52565 (UniProtKB/Swiss-Prot),   V9HWE8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288171   ⟸   NM_001301242
- Peptide Label: isoform d
- UniProtKB: P52565 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288169   ⟸   NM_001301240
- Peptide Label: isoform c
- UniProtKB: P52565 (UniProtKB/Swiss-Prot),   J3QQX2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288172   ⟸   NM_001301243
- Peptide Label: isoform e
- UniProtKB: P52565 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288170   ⟸   NM_001301241
- Peptide Label: isoform c
- UniProtKB: P52565 (UniProtKB/Swiss-Prot),   J3QQX2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521876   ⟸   XM_011523574
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000464205   ⟸   ENST00000580685
RefSeq Acc Id: ENSP00000441348   ⟸   ENST00000541078
RefSeq Acc Id: ENSP00000463530   ⟸   ENST00000580033
RefSeq Acc Id: ENSP00000461956   ⟸   ENST00000581876
RefSeq Acc Id: ENSP00000269321   ⟸   ENST00000269321
RefSeq Acc Id: ENSP00000462209   ⟸   ENST00000583868
RefSeq Acc Id: ENSP00000463939   ⟸   ENST00000584461
RefSeq Acc Id: ENSP00000383556   ⟸   ENST00000400721
RefSeq Acc Id: ENSP00000462323   ⟸   ENST00000578351
RefSeq Acc Id: ENSP00000462960   ⟸   ENST00000579121

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52565-F1-model_v2 AlphaFold P52565 1-204 view protein structure

Promoters
RGD ID:6793743
Promoter ID:HG_KWN:27382
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002KBP.1,   UC002KBT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361777,420,666 - 77,421,752 (-)MPROMDB
RGD ID:6793762
Promoter ID:HG_KWN:27383
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001185077,   NM_001185078,   UC002KBQ.1,   UC002KBR.1,   UC002KBS.1,   UC010DIG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361777,421,811 - 77,423,272 (-)MPROMDB
RGD ID:7236665
Promoter ID:EPDNEW_H24078
Type:initiation region
Name:ARHGDIA_2
Description:Rho GDP dissociation inhibitor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24079  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,869,972 - 81,870,032EPDNEW
RGD ID:7236667
Promoter ID:EPDNEW_H24079
Type:initiation region
Name:ARHGDIA_1
Description:Rho GDP dissociation inhibitor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24078  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,871,337 - 81,871,397EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004309.6(ARHGDIA):c.547GAC[2] (p.Asp185del) microsatellite Nephrotic syndrome, type 8 [RCV000043532] Chr17:81868936..81868938 [GRCh38]
Chr17:79826812..79826814 [GRCh37]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 copy number gain See cases [RCV000050934] Chr17:78901959..83086677 [GRCh38]
Chr17:76898041..81044553 [GRCh37]
Chr17:74409636..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 copy number gain See cases [RCV000050685] Chr17:78092236..83086677 [GRCh38]
Chr17:76088317..81044553 [GRCh37]
Chr17:73599912..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 copy number gain See cases [RCV000052497] Chr17:78918650..83021095 [GRCh38]
Chr17:76914732..80978971 [GRCh37]
Chr17:74426327..78572260 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:80328106-83086677)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|See cases [RCV000053454] Chr17:80328106..83086677 [GRCh38]
Chr17:78301906..81044553 [GRCh37]
Chr17:75916501..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
NM_004309.6(ARHGDIA):c.518G>T (p.Gly173Val) single nucleotide variant Nephrotic syndrome, type 8 [RCV000128808] Chr17:81868973 [GRCh38]
Chr17:79826849 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_004309.6(ARHGDIA):c.358C>T (p.Arg120Ter) single nucleotide variant Nephrotic syndrome, type 8 [RCV000128809] Chr17:81869230 [GRCh38]
Chr17:79827106 [GRCh37]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3 copy number gain See cases [RCV000138688] Chr17:81008196..83102584 [GRCh38]
Chr17:78981996..81048189 [GRCh37]
Chr17:76596591..78653749 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1 copy number loss See cases [RCV000142007] Chr17:81401966..83084062 [GRCh38]
Chr17:79375766..81041938 [GRCh37]
Chr17:76990361..78635227 [NCBI36]
Chr17:17q25.3		 likely pathogenic
GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1 copy number loss See cases [RCV000142607] Chr17:81859688..82017612 [GRCh38]
Chr17:79817564..79975488 [GRCh37]
Chr17:77410853..77568777 [NCBI36]
Chr17:17q25.3		 benign
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:78514452-81041938)x1 copy number loss See cases [RCV000449416] Chr17:78514452..81041938 [GRCh37]
Chr17:17q25.3		 pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:79817155-79829187)x3 copy number gain See cases [RCV000447133] Chr17:79817155..79829187 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_004309.6(ARHGDIA):c.*65dup duplication Finnish congenital nephrotic syndrome [RCV000626070] Chr17:81868810..81868811 [GRCh38]
Chr17:79826686..79826687 [GRCh37]
Chr17:17q25.3		 pathogenic|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 copy number gain not provided [RCV000683965] Chr17:76552611..81041938 [GRCh37]
Chr17:17q25.3		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_004309.6(ARHGDIA):c.351+43G>A single nucleotide variant not provided [RCV001640841] Chr17:81869287 [GRCh38]
Chr17:79827163 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:79819954-79985284)x3 copy number gain not provided [RCV000752230] Chr17:79819954..79985284 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:79819954-79986312)x3 copy number gain not provided [RCV000752231] Chr17:79819954..79986312 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:79819954-80059487)x3 copy number gain not provided [RCV000752232] Chr17:79819954..80059487 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:79828248-81057996)x1 copy number loss not provided [RCV000752233] Chr17:79828248..81057996 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_004309.6(ARHGDIA):c.432C>T (p.Tyr144=) single nucleotide variant not provided [RCV000902066] Chr17:81869059 [GRCh38]
Chr17:79826935 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3 copy number gain not provided [RCV000848219] Chr17:79663313..80197463 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3 copy number gain not provided [RCV000848418] Chr17:78608912..81041938 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_004309.6(ARHGDIA):c.*243G>A single nucleotide variant Chronic kidney disease [RCV001171353] Chr17:81868633 [GRCh38]
Chr17:79826509 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004309.6(ARHGDIA):c.274+14G>A single nucleotide variant not provided [RCV001589977] Chr17:81869528 [GRCh38]
Chr17:79827404 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_004309.6(ARHGDIA):c.416-4G>A single nucleotide variant not provided [RCV000885897] Chr17:81869079 [GRCh38]
Chr17:79826955 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004309.6(ARHGDIA):c.*28_*31del deletion Nephrotic syndrome, type 8 [RCV001336291] Chr17:81868845..81868848 [GRCh38]
Chr17:79826721..79826724 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_004309.6(ARHGDIA):c.*41A>G single nucleotide variant Nephrotic syndrome, type 8 [RCV001331895] Chr17:81868835 [GRCh38]
Chr17:79826711 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004309.6(ARHGDIA):c.275-20G>T single nucleotide variant Nephrotic syndrome, type 8 [RCV001331896] Chr17:81869426 [GRCh38]
Chr17:79827302 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004309.6(ARHGDIA):c.151T>C (p.Tyr51His) single nucleotide variant Nephrotic syndrome, type 8 [RCV001533190] Chr17:81869780 [GRCh38]
Chr17:79827656 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004309.6(ARHGDIA):c.352-16G>A single nucleotide variant not provided [RCV002125105] Chr17:81869252 [GRCh38]
Chr17:79827128 [GRCh37]
Chr17:17q25.3		 benign
NM_004309.6(ARHGDIA):c.135C>T (p.Asp45=) single nucleotide variant not provided [RCV002207413] Chr17:81869796 [GRCh38]
Chr17:79827672 [GRCh37]
Chr17:17q25.3		 likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:678 AgrOrtholog
COSMIC ARHGDIA COSMIC
Ensembl Genes ENSG00000141522 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000269321 ENTREZGENE
  ENSP00000269321.7 UniProtKB/Swiss-Prot
  ENSP00000383556 ENTREZGENE
  ENSP00000383556.4 UniProtKB/Swiss-Prot
  ENSP00000441348 ENTREZGENE
  ENSP00000441348.2 UniProtKB/Swiss-Prot
  ENSP00000461956.1 UniProtKB/TrEMBL
  ENSP00000462209.1 UniProtKB/TrEMBL
  ENSP00000462323.1 UniProtKB/TrEMBL
  ENSP00000462960 ENTREZGENE
  ENSP00000462960.1 UniProtKB/TrEMBL
  ENSP00000463530.1 UniProtKB/TrEMBL
  ENSP00000463939 ENTREZGENE
  ENSP00000463939.1 UniProtKB/TrEMBL
  ENSP00000464205.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000269321 ENTREZGENE
  ENST00000269321.12 UniProtKB/Swiss-Prot
  ENST00000400721 ENTREZGENE
  ENST00000400721.8 UniProtKB/Swiss-Prot
  ENST00000541078 ENTREZGENE
  ENST00000541078.6 UniProtKB/Swiss-Prot
  ENST00000578351.1 UniProtKB/TrEMBL
  ENST00000579121 ENTREZGENE
  ENST00000579121.5 UniProtKB/TrEMBL
  ENST00000580033.5 UniProtKB/TrEMBL
  ENST00000580685.5 UniProtKB/Swiss-Prot
  ENST00000581876.5 UniProtKB/TrEMBL
  ENST00000583868.5 UniProtKB/TrEMBL
  ENST00000584461 ENTREZGENE
  ENST00000584461.5 UniProtKB/TrEMBL
Gene3D-CATH 2.70.50.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141522 GTEx
HGNC ID HGNC:678 ENTREZGENE
Human Proteome Map ARHGDIA Human Proteome Map
InterPro Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGDI_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:396 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 396 ENTREZGENE
OMIM 601925 OMIM
  615244 OMIM
PANTHER PTHR10980 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rho_GDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24963 PharmGKB
PRINTS RHOGDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3D9_HUMAN UniProtKB/TrEMBL
  GDIR1_HUMAN UniProtKB/Swiss-Prot
  J3KRE2_HUMAN UniProtKB/TrEMBL
  J3KRY1_HUMAN UniProtKB/TrEMBL
  J3KS60_HUMAN UniProtKB/TrEMBL
  J3KTF8_HUMAN UniProtKB/TrEMBL
  J3QQX2 ENTREZGENE, UniProtKB/TrEMBL
  P52565 ENTREZGENE
  V9HWE8 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8MXW0 UniProtKB/Swiss-Prot
  B2R5X1 UniProtKB/Swiss-Prot
  B4DDD3 UniProtKB/Swiss-Prot
  B4DUV9 UniProtKB/Swiss-Prot
  Q6IBM5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 ARHGDIA  Rho GDP dissociation inhibitor alpha  ARHGDIA  Rho GDP dissociation inhibitor (GDI) alpha  Symbol and/or name change 5135510 APPROVED