Human Gene ARHGAP42 (ENST00000524892.7) Description and Page Index
  Description: Contains 1 PH domain. (from UniProt E9PJK4)
RefSeq Summary (NM_152432): This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017].
Gencode Transcript: ENST00000524892.7
Gencode Gene: ENSG00000165895.19
Transcript (Including UTRs)
   Position: hg38 chr11:100,687,653-100,993,941 Size: 306,289 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg38 chr11:100,687,679-100,988,801 Size: 301,123 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:100,687,653-100,993,941)mRNA (may differ from genome)Protein (840 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: E9PJK4_HUMAN
DESCRIPTION: SubName: Full=Rho GTPase-activating protein 42;
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 Rho-GAP domain.
SIMILARITY: Contains 1 SH3 domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D018817 N-Methyl-3,4-methylenedioxyamphetamine
  • C006253 pirinixic acid

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.39 RPKM in Nerve - Tibial
Total median expression: 68.30 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 -7.5026-0.288 Picture PostScript Text
3' UTR -1244.405140-0.242 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
IPR013606 - IRSp53/MIM_homology_IMD
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom
IPR001452 - SH3_domain

Pfam Domains:
PF00620 - RhoGAP domain
PF00018 - SH3 domain

ModBase Predicted Comparative 3D Structure on E9PJK4
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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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity

Biological Process:
GO:0007165 signal transduction
GO:0043547 positive regulation of GTPase activity


-  Descriptions from all associated GenBank mRNAs
  JD162365 - Sequence 143389 from Patent EP1572962.
AK057372 - Homo sapiens cDNA FLJ32810 fis, clone TESTI2002729, weakly similar to Homo sapiens mRNA for oligophrenin 1.
JD290340 - Sequence 271364 from Patent EP1572962.
DQ577449 - Homo sapiens piRNA piR-45561, complete sequence.
AK023666 - Homo sapiens cDNA FLJ13604 fis, clone PLACE1010401.
JD182894 - Sequence 163918 from Patent EP1572962.
JD284181 - Sequence 265205 from Patent EP1572962.
JD500135 - Sequence 481159 from Patent EP1572962.
AK314174 - Homo sapiens cDNA, FLJ94892, highly similar to Homo sapiens AD031 protein (AD031), mRNA.
AF247167 - Homo sapiens AD031 mRNA, complete cds.
JD092919 - Sequence 73943 from Patent EP1572962.
JD288021 - Sequence 269045 from Patent EP1572962.
BC112050 - Homo sapiens transmembrane protein 133, mRNA (cDNA clone MGC:138255 IMAGE:8327518), complete cds.
BC093843 - Homo sapiens transmembrane protein 133, mRNA (cDNA clone MGC:120878 IMAGE:7939688), complete cds.
BC058024 - Homo sapiens transmembrane protein 133, mRNA (cDNA clone IMAGE:4251720), with apparent retained intron.
JD508135 - Sequence 489159 from Patent EP1572962.
KJ894916 - Synthetic construct Homo sapiens clone ccsbBroadEn_04310 TMEM133 gene, encodes complete protein.
JD383420 - Sequence 364444 from Patent EP1572962.
JD114324 - Sequence 95348 from Patent EP1572962.
JD295037 - Sequence 276061 from Patent EP1572962.
JD046974 - Sequence 27998 from Patent EP1572962.
JD195144 - Sequence 176168 from Patent EP1572962.
JD347704 - Sequence 328728 from Patent EP1572962.
JD233681 - Sequence 214705 from Patent EP1572962.
JD181770 - Sequence 162794 from Patent EP1572962.
JD082574 - Sequence 63598 from Patent EP1572962.
JD376954 - Sequence 357978 from Patent EP1572962.
JD262696 - Sequence 243720 from Patent EP1572962.
JD353247 - Sequence 334271 from Patent EP1572962.
JD053916 - Sequence 34940 from Patent EP1572962.
JD295538 - Sequence 276562 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK023666, E9PJK4, E9PJK4_HUMAN, uc058gtm.1, uc058gtm.2
UCSC ID: uc058gtm.2
RefSeq Accession: NM_152432
Protein: E9PJK4

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