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Aliases for ARHGAP42 Gene

Aliases for ARHGAP42 Gene

  • Rho GTPase Activating Protein 42 2 3 5
  • Rho-Type GTPase-Activating Protein 42 3 4
  • Transmembrane Protein 133 2 3
  • GRAF3 3 4
  • Rho GTPase-Activating Protein 10-Like 4
  • Rho GTPase-Activating Protein 42 3
  • TMEM133 3
  • AD031 3

External Ids for ARHGAP42 Gene

Previous HGNC Symbols for ARHGAP42 Gene

  • TMEM133

Previous GeneCards Identifiers for ARHGAP42 Gene

  • GC11P100559
  • GC11P096494

Summaries for ARHGAP42 Gene

Entrez Gene Summary for ARHGAP42 Gene

  • 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]

GeneCards Summary for ARHGAP42 Gene

ARHGAP42 (Rho GTPase Activating Protein 42) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARHGAP10.

UniProtKB/Swiss-Prot for ARHGAP42 Gene

  • May influence blood pressure by functioning as a GTPase-activating protein for RHOA in vascular smooth muscle.

Additional gene information for ARHGAP42 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGAP42 Gene

Genomics for ARHGAP42 Gene

GeneHancer (GH) Regulatory Elements for ARHGAP42 Gene

Promoters and enhancers for ARHGAP42 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I100686 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.0 31 3 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 ETS1 ZNF143 SP3 JUNB LOC100128386 ARHGAP42 ENSG00000170647 GC11P100662
GH11I100774 Enhancer 1.1 Ensembl ENCODE dbSUPER 22.8 +88.9 88881 4.7 FOXA2 SIN3A ZNF384 DMAP1 ZNF644 FOSL1 GATA3 HNF4G FOSL2 FOS ARHGAP42 LOC100128386 ENSG00000170647 RN7SKP115
GH11I100752 Enhancer 0.8 Ensembl ENCODE 30 +65.5 65546 2 CTCF NFIB ZIC2 ZNF335 OSR2 SCRT2 ZNF341 PRDM10 ARHGAP42 LOC100128386 RN7SKP115
GH11I100718 Enhancer 1 Ensembl ENCODE 11.1 +32.1 32079 1.6 FOXA2 FEZF1 RAD21 RFX5 YY1 RCOR1 FOS RXRA REST NR2F2 ENSG00000170647 LOC100128386 ARHGAP42 RN7SKP115
GH11I100632 Enhancer 0.9 Ensembl ENCODE 10.9 -54.5 -54463 2.3 NFIB MAX RAD21 YY1 TEAD3 GATA3 HNF4G RXRA NFIA REST ARHGAP42 LOC100128386 ENSG00000170647 GC11M100607 RN7SL222P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARHGAP42 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ARHGAP42 Gene

Genomic Locations for ARHGAP42 Gene
chr11:100,687,653-100,991,937
(GRCh38/hg38)
Size:
304,285 bases
Orientation:
Plus strand
chr11:100,558,384-100,862,668
(GRCh37/hg19)

Genomic View for ARHGAP42 Gene

Genes around ARHGAP42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP42 Gene

Proteins for ARHGAP42 Gene

  • Protein details for ARHGAP42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NI28-RHG42_HUMAN
    Recommended name:
    Rho GTPase-activating protein 42
    Protein Accession:
    A6NI28
    Secondary Accessions:
    • Q96M56

    Protein attributes for ARHGAP42 Gene

    Size:
    874 amino acids
    Molecular mass:
    98569 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71456.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BF511460; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};

neXtProt entry for ARHGAP42 Gene

Post-translational modifications for ARHGAP42 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ARHGAP42 Gene

Domains & Families for ARHGAP42 Gene

Gene Families for ARHGAP42 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ARHGAP42 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ARHGAP42: view

No data available for UniProtKB/Swiss-Prot for ARHGAP42 Gene

Function for ARHGAP42 Gene

Molecular function for ARHGAP42 Gene

UniProtKB/Swiss-Prot Function:
May influence blood pressure by functioning as a GTPase-activating protein for RHOA in vascular smooth muscle.

Phenotypes From GWAS Catalog for ARHGAP42 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA,IEA 24335996
genes like me logo Genes that share ontologies with ARHGAP42: view

Phenotypes for ARHGAP42 Gene

genes like me logo Genes that share phenotypes with ARHGAP42: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP42 Gene

Localization for ARHGAP42 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARHGAP42 gene
Compartment Confidence
nucleus 4
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGAP42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ARHGAP42: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP42 Gene

Pathways & Interactions for ARHGAP42 Gene

genes like me logo Genes that share pathways with ARHGAP42: view

Pathways by source for ARHGAP42 Gene

1 Cell Signaling Technology pathway for ARHGAP42 Gene
3 Reactome pathways for ARHGAP42 Gene

Interacting Proteins for ARHGAP42 Gene

Gene Ontology (GO) - Biological Process for ARHGAP42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003085 negative regulation of systemic arterial blood pressure IEA --
GO:0007165 signal transduction IEA --
GO:0035024 negative regulation of Rho protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0090630 activation of GTPase activity IDA 24335996
genes like me logo Genes that share ontologies with ARHGAP42: view

No data available for SIGNOR curated interactions for ARHGAP42 Gene

Drugs & Compounds for ARHGAP42 Gene

No Compound Related Data Available

Transcripts for ARHGAP42 Gene

mRNA/cDNA for ARHGAP42 Gene

(7) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ARHGAP42 Gene

Rho GTPase activating protein 42:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP42 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1:
SP2: -

Relevant External Links for ARHGAP42 Gene

GeneLoc Exon Structure for
ARHGAP42
ECgene alternative splicing isoforms for
ARHGAP42

Expression for ARHGAP42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARHGAP42 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP42 Gene

This gene is overexpressed in Placenta (51.4), Peripheral blood mononuclear cells (8.3), and Retina (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ARHGAP42 Gene



Protein tissue co-expression partners for ARHGAP42 Gene

NURSA nuclear receptor signaling pathways regulating expression of ARHGAP42 Gene:

ARHGAP42

SOURCE GeneReport for Unigene cluster for ARHGAP42 Gene:

Hs.741465

mRNA Expression by UniProt/SwissProt for ARHGAP42 Gene:

A6NI28-RHG42_HUMAN
Tissue specificity: Highly and selectively expressed in smooth muscle cells.

Evidence on tissue expression from TISSUES for ARHGAP42 Gene

  • Adrenal gland(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with ARHGAP42: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP42 Gene

Orthologs for ARHGAP42 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGAP42 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP42 33 34
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia FLJ32810 34
  • 97 (a)
OneToOne
ARHGAP42 33
  • 90.35 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGAP42 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP42 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGAP42 33 34
  • 92.43 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap42 33
  • 88.33 (n)
mouse
(Mus musculus)
Mammalia Arhgap42 33 16 34
  • 87.82 (n)
chicken
(Gallus gallus)
Aves ARHGAP42 33 34
  • 81.88 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGAP42 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgap42 33
  • 76.5 (n)
zebrafish
(Danio rerio)
Actinopterygii ARHGAP42 34
  • 72 (a)
OneToOne
arhgap42 33
  • 67.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta Graf 34
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T04C9.1 34
  • 36 (a)
OneToMany
Species where no ortholog for ARHGAP42 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARHGAP42 Gene

ENSEMBL:
Gene Tree for ARHGAP42 (if available)
TreeFam:
Gene Tree for ARHGAP42 (if available)

Paralogs for ARHGAP42 Gene

genes like me logo Genes that share paralogs with ARHGAP42: view

Variants for ARHGAP42 Gene

Sequence variations from dbSNP and Humsavar for ARHGAP42 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000004019 -- 100,940,211(+) AAAAAAA/AAAAAAAA intron_variant
rs1000006502 -- 100,982,954(+) G/A intron_variant
rs1000029188 -- 100,921,965(+) C/T intron_variant
rs1000039623 -- 100,899,160(+) G/A intron_variant
rs1000039914 -- 100,844,843(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP42 Gene

Variant ID Type Subtype PubMed ID
nsv1116682 CNV tandem duplication 24896259
esv990975 CNV insertion 20482838
esv3627504 CNV loss 21293372
esv3627502 CNV gain 21293372
esv3627497 CNV loss 21293372
esv3627496 CNV loss 21293372
esv3627495 CNV loss 21293372
esv3627493 CNV loss 21293372
esv3627492 CNV loss 21293372
esv3627491 CNV loss 21293372
esv3548242 CNV deletion 23714750
esv3440404 CNV insertion 20981092
esv3379245 CNV insertion 20981092
esv3355364 CNV insertion 20981092
esv3344349 CNV insertion 20981092
esv3304187 CNV mobile element insertion 20981092
esv2678215 CNV deletion 23128226
esv2667203 CNV deletion 23128226
esv2659208 CNV deletion 23128226
esv2529193 CNV insertion 19546169
esv1333643 CNV insertion 17803354
dgv228e214 CNV loss 21293372
dgv1267n100 CNV gain 25217958
dgv1266n100 CNV gain 25217958
dgv1265n100 CNV gain 25217958
nsv951063 CNV duplication 24416366
nsv832246 CNV gain 17160897
nsv826057 CNV loss 20364138
nsv556129 CNV loss 21841781
nsv556122 CNV gain 21841781
nsv520995 CNV gain 19592680
nsv478185 CNV novel sequence insertion 20440878
nsv468849 CNV loss 19166990
nsv460 CNV insertion 18451855
nsv38828 CNV insertion 16902084

Variation tolerance for ARHGAP42 Gene

Residual Variation Intolerance Score: 71.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.52; 85.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP42 Gene

Human Gene Mutation Database (HGMD)
ARHGAP42
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP42

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP42 Gene

Disorders for ARHGAP42 Gene

Additional Disease Information for ARHGAP42

No disorders were found for ARHGAP42 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGAP42 Gene

Publications for ARHGAP42 Gene

  1. The smooth muscle-selective RhoGAP GRAF3 is a critical regulator of vascular tone and hypertension. (PMID: 24335996) Bai X … Taylor JM (Nature communications 2013) 3 4 58
  2. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (PMID: 21909115) International Consortium for Blood Pressure Genome-Wide Association Studies … Johnson T (Nature 2011) 3 44 58
  3. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain LV … van Duijn CM (Nature genetics 2011) 3 44 58
  4. A BAR domain-mediated autoinhibitory mechanism for RhoGAPs of the GRAF family. (PMID: 18954304) Eberth A … Ahmadian MR (The Biochemical journal 2009) 2 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ARHGAP42 Gene

Sources for ARHGAP42 Gene

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