Human Gene ARHGEF3 (ENST00000296315.8) from GENCODE V44
  Description: Homo sapiens Rho guanine nucleotide exchange factor 3 (ARHGEF3), transcript variant 3, mRNA. (from RefSeq NM_019555)
RefSeq Summary (NM_019555): Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000296315.8
Gencode Gene: ENSG00000163947.12
Transcript (Including UTRs)
   Position: hg38 chr3:56,727,420-56,801,949 Size: 74,530 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr3:56,729,270-56,801,798 Size: 72,529 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:56,727,420-56,801,949)mRNA (may differ from genome)Protein (526 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ARHG3_HUMAN
DESCRIPTION: RecName: Full=Rho guanine nucleotide exchange factor 3; AltName: Full=Exchange factor found in platelets and leukemic and neuronal tissues; Short=XPLN;
FUNCTION: Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases.
SUBUNIT: Interacts with RHOA and RHOB.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: Widely expressed. Highest levels are found in adult brain and skeletal muscle. Lower levels are found in heart and kidney.
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=AAH68513.1; Type=Erroneous initiation; Sequence=BAB14891.1; Type=Erroneous initiation; Sequence=BAD92898.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: ARHGEF3
Diseases sorted by gene-association score: charcot-marie-tooth disease, type 4h (12), osteoporosis (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D013749 Tetrachlorodibenzodioxin
  • C517041 (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • C027576 4-hydroxy-2-nonenal
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.55 RPKM in Adrenal Gland
Total median expression: 259.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -65.40151-0.433 Picture PostScript Text
3' UTR -473.501850-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000219 - DH-domain
IPR001331 - GDS_CDC24_CS
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR015721 - RhoGEF-like

Pfam Domains:
PF00621 - RhoGEF domain

ModBase Predicted Comparative 3D Structure on Q9NR81
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding

Biological Process:
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007266 Rho protein signal transduction
GO:0035023 regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0051056 regulation of small GTPase mediated signal transduction

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF249744 - Homo sapiens chromosome 3p13-p21 RhoGEF mRNA, complete cds.
AF433662 - Homo sapiens RhoGEF protein mRNA, complete cds.
AL136832 - Homo sapiens mRNA; cDNA DKFZp434F2429 (from clone DKFZp434F2429).
AX775923 - Sequence 193 from Patent WO03048202.
BC054345 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3, mRNA (cDNA clone MGC:61446 IMAGE:6501674), complete cds.
AK024340 - Homo sapiens cDNA FLJ14278 fis, clone PLACE1005549, weakly similar to Homo sapiens mRNA for Rho guanine nucleotide-exchange factor, splice variant NET1A.
AB209661 - Homo sapiens mRNA for Rho guanine nucleotide exchange factor 3 variant protein.
BC068513 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3, mRNA (cDNA clone IMAGE:5264163), partial cds.
BC098122 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3, mRNA (cDNA clone MGC:118903 IMAGE:40001657), complete cds.
BC098272 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3, mRNA (cDNA clone MGC:118904 IMAGE:40001658), complete cds.
BC104723 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3, mRNA (cDNA clone MGC:118902 IMAGE:40001656), complete cds.
BC099715 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3, mRNA (cDNA clone MGC:118905 IMAGE:40001659), complete cds.
AK308178 - Homo sapiens cDNA, FLJ98126.
AK300045 - Homo sapiens cDNA FLJ55591 complete cds, highly similar to Rho guanine nucleotide exchange factor 3.
AK293864 - Homo sapiens cDNA FLJ58753 complete cds, highly similar to Rho guanine nucleotide exchange factor 3.
AK302493 - Homo sapiens cDNA FLJ55856 complete cds, highly similar to Rho guanine nucleotide exchange factor 3.
AK291412 - Homo sapiens cDNA FLJ76301 complete cds, highly similar to Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), mRNA.
KJ893755 - Synthetic construct Homo sapiens clone ccsbBroadEn_03149 ARHGEF3 gene, encodes complete protein.
AM392996 - Synthetic construct Homo sapiens clone IMAGE:100001754 for hypothetical protein (ARHGEF3 gene).
AB463227 - Synthetic construct DNA, clone: pF1KB8437, Homo sapiens ARHGEF3 gene for Rho guanine nucleotide exchange factor (GEF) 3, without stop codon, in Flexi system.
BC022249 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3, mRNA (cDNA clone IMAGE:4696087), **** WARNING: chimeric clone ****.
AK225688 - Homo sapiens mRNA for Rho guanine nucleotide exchange factor 3 variant, clone: SYN08675.
JD531016 - Sequence 512040 from Patent EP1572962.
JD556993 - Sequence 538017 from Patent EP1572962.
JD103076 - Sequence 84100 from Patent EP1572962.
JD494967 - Sequence 475991 from Patent EP1572962.
JD301660 - Sequence 282684 from Patent EP1572962.
JD514371 - Sequence 495395 from Patent EP1572962.
JD214028 - Sequence 195052 from Patent EP1572962.
JD073264 - Sequence 54288 from Patent EP1572962.
JD434250 - Sequence 415274 from Patent EP1572962.
JD084121 - Sequence 65145 from Patent EP1572962.
JD118087 - Sequence 99111 from Patent EP1572962.
JD102695 - Sequence 83719 from Patent EP1572962.
JD260097 - Sequence 241121 from Patent EP1572962.
JD254496 - Sequence 235520 from Patent EP1572962.
JD499198 - Sequence 480222 from Patent EP1572962.
JD324039 - Sequence 305063 from Patent EP1572962.
JD309592 - Sequence 290616 from Patent EP1572962.
JD453046 - Sequence 434070 from Patent EP1572962.
JD289290 - Sequence 270314 from Patent EP1572962.
JD188111 - Sequence 169135 from Patent EP1572962.
KJ902531 - Synthetic construct Homo sapiens clone ccsbBroadEn_11925 ARHGEF3 gene, encodes complete protein.
BC094748 - Homo sapiens cDNA clone IMAGE:30527768, with apparent retained intron.
JD523249 - Sequence 504273 from Patent EP1572962.
JD227689 - Sequence 208713 from Patent EP1572962.
JD150070 - Sequence 131094 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NR81 (Reactome details) participates in the following event(s):

R-HSA-194913 GEFs activate Rho GTPase:GDP
R-HSA-419166 GEFs activate RhoA,B,C
R-HSA-205039 p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-193648 NRAGE signals death through JNK
R-HSA-194315 Signaling by Rho GTPases
R-HSA-388396 GPCR downstream signalling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-73887 Death Receptor Signalling

-  Other Names for This Gene
  Alternate Gene Symbols: A8K5U7, ARHG3_HUMAN, ENST00000296315.1, ENST00000296315.2, ENST00000296315.3, ENST00000296315.4, ENST00000296315.5, ENST00000296315.6, ENST00000296315.7, NM_019555, Q4FZB6, Q4QQI5, Q4QQQ0, Q59F00, Q6NUN3, Q7Z4U2, Q7Z5T2, Q9H7T4, Q9NR81, uc003dig.1, uc003dig.2, uc003dig.3
UCSC ID: ENST00000296315.8
RefSeq Accession: NM_019555
Protein: Q9NR81 (aka ARHG3_HUMAN or ARH3_HUMAN)
CCDS: CCDS2878.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.