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Aliases for ARHGAP24 Gene

Aliases for ARHGAP24 Gene

  • Rho GTPase Activating Protein 24 2 3 5
  • RAC1- And CDC42-Specific GTPase-Activating Protein Of 72 KDa 3 4
  • Filamin-A-Associated RhoGAP 3 4
  • Sarcoma Antigen NY-SAR-88 3 4
  • RhoGAP Of 73 KDa 3 4
  • P73RhoGAP 3 4
  • RC-GAP72 3 4
  • FILGAP 3 4
  • Rho-Type GTPase-Activating Protein 24 4
  • Rho GTPase-Activating Protein 24 3
  • RCGAP72 3
  • P73 3

External Ids for ARHGAP24 Gene

Previous GeneCards Identifiers for ARHGAP24 Gene

  • GC04P086951
  • GC04P086848
  • GC04P086615
  • GC04P086396
  • GC04P082138

Summaries for ARHGAP24 Gene

Entrez Gene Summary for ARHGAP24 Gene

  • This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GeneCards Summary for ARHGAP24 Gene

ARHGAP24 (Rho GTPase Activating Protein 24) is a Protein Coding gene. Diseases associated with ARHGAP24 include Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis and Atypical Autism. Among its related pathways are G-protein signaling_Regulation of RAC1 activity and Signaling by GPCR. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARHGAP22.

UniProtKB/Swiss-Prot for ARHGAP24 Gene

  • Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound state. Controls actin remodeling by inactivating Rac downstream of Rho leading to suppress leading edge protrusion and promotes cell retraction to achieve cellular polarity. Able to suppress RAC1 and CDC42 activity in vitro. Overexpression induces cell rounding with partial or complete disruption of actin stress fibers and formation of membrane ruffles, lamellipodia, and filopodia. Isoform 2 is a vascular cell-specific GAP involved in modulation of angiogenesis.

Gene Wiki entry for ARHGAP24 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGAP24 Gene

Genomics for ARHGAP24 Gene

Regulatory Elements for ARHGAP24 Gene

Enhancers for ARHGAP24 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F085777 1.4 FANTOM5 Ensembl ENCODE 17.8 +633.8 633825 8.4 ATF1 TBL1XR1 JUN BMI1 EBF1 ZBTB40 ZNF316 POLR2A FOS NFE2 ARHGAP24 ENSG00000273389 GC04P085763
GH04F085740 1.5 FANTOM5 Ensembl ENCODE 15.8 +595.0 594978 5.0 PKNOX1 ARNT GATA2 FOS CREM CEBPB JUNB MAFF SMARCA4 PBX2 ARHGAP24 GC04P085763 MIR4451
GH04F085700 1.3 FANTOM5 Ensembl ENCODE 14.3 +554.3 554259 4.0 MTA2 JUNB TRIM22 BMI1 TBX21 EP300 RELA JUND CBX5 SCRT2 ARHGAP24 LOC101929064 MIR4451 LOC105377319
GH04F085759 1.4 FANTOM5 Ensembl ENCODE 10.1 +614.4 614405 4.7 PKNOX1 JUN FEZF1 CEBPG ZNF121 CTBP1 GATA3 ZNF366 POLR2A SCRT2 ARHGAP24 ENSG00000273389 GC04P085763 MIR4451
GH04F085823 0.9 Ensembl ENCODE 15.3 +676.3 676259 1.4 ZNF175 CEBPB ZIC2 ATF3 POLR2A SMARCA4 IKZF1 ZNF341 ZBTB20 MGA ARHGAP24 GC04P085763 ENSG00000273389
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARHGAP24 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARHGAP24 Gene

Chromosome:
4
Start:
85,147,742 bp from pter
End:
86,002,670 bp from pter
Size:
854,929 bases
Orientation:
Plus strand

Genomic View for ARHGAP24 Gene

Genes around ARHGAP24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP24 Gene

Proteins for ARHGAP24 Gene

  • Protein details for ARHGAP24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N264-RHG24_HUMAN
    Recommended name:
    Rho GTPase-activating protein 24
    Protein Accession:
    Q8N264
    Secondary Accessions:
    • Q4KMG1
    • Q6ZNV3
    • Q86TI5
    • Q86WE4
    • Q9H0T6

    Protein attributes for ARHGAP24 Gene

    Size:
    748 amino acids
    Molecular mass:
    84258 Da
    Quaternary structure:
    • Interacts with FLNA.
    SequenceCaution:
    • Sequence=AAO65178.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGAP24 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP24 Gene

Post-translational modifications for ARHGAP24 Gene

  • Phosphorylated by ROCK, leading to activate the RacGAP activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGAP24 Gene

Domains & Families for ARHGAP24 Gene

Protein Domains for ARHGAP24 Gene

Suggested Antigen Peptide Sequences for ARHGAP24 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N264

UniProtKB/Swiss-Prot:

RHG24_HUMAN :
  • The coiled coil domain mediates the interaction with FLNA leading to its recruitment to lamellae.
Domain:
  • The coiled coil domain mediates the interaction with FLNA leading to its recruitment to lamellae.
  • Contains 1 PH domain.
  • Contains 1 Rho-GAP domain.
genes like me logo Genes that share domains with ARHGAP24: view

Function for ARHGAP24 Gene

Molecular function for ARHGAP24 Gene

UniProtKB/Swiss-Prot Function:
Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound state. Controls actin remodeling by inactivating Rac downstream of Rho leading to suppress leading edge protrusion and promotes cell retraction to achieve cellular polarity. Able to suppress RAC1 and CDC42 activity in vitro. Overexpression induces cell rounding with partial or complete disruption of actin stress fibers and formation of membrane ruffles, lamellipodia, and filopodia. Isoform 2 is a vascular cell-specific GAP involved in modulation of angiogenesis.
UniProtKB/Swiss-Prot Induction:
Isoform 2 is up-regulated during capillary tube formation in umbilical vein endothelial cells.

Gene Ontology (GO) - Molecular Function for ARHGAP24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 16862148
genes like me logo Genes that share ontologies with ARHGAP24: view
genes like me logo Genes that share phenotypes with ARHGAP24: view

Animal Models for ARHGAP24 Gene

MGI Knock Outs for ARHGAP24:

Animal Model Products

miRNA for ARHGAP24 Gene

miRTarBase miRNAs that target ARHGAP24

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGAP24 Gene

Localization for ARHGAP24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP24 Gene

Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell junction, focal adhesion. Cell projection. Note=Localizes to actin stress fibers. In migrating cells, localizes to membrane lamellae and protusions.

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 ARHGAP24 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ARHGAP24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005912 adherens junction IEA --
GO:0005925 focal adhesion IEA --
genes like me logo Genes that share ontologies with ARHGAP24: view

Pathways & Interactions for ARHGAP24 Gene

genes like me logo Genes that share pathways with ARHGAP24: view

Pathways by source for ARHGAP24 Gene

1 GeneTex pathway for ARHGAP24 Gene
3 Reactome pathways for ARHGAP24 Gene
1 GeneGo (Thomson Reuters) pathway for ARHGAP24 Gene

SIGNOR curated interactions for ARHGAP24 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ARHGAP24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0007165 signal transduction IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ARHGAP24: view

Transcripts for ARHGAP24 Gene

Unigene Clusters for ARHGAP24 Gene

Rho GTPase activating protein 24:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP24 Gene

No ASD Table

Relevant External Links for ARHGAP24 Gene

GeneLoc Exon Structure for
ARHGAP24
ECgene alternative splicing isoforms for
ARHGAP24

Expression for ARHGAP24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP24 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP24 Gene

This gene is overexpressed in Pancreatic juice (24.3), Blymphocyte (23.9), and Adipocyte (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ARHGAP24 Gene



Protein tissue co-expression partners for ARHGAP24 Gene

NURSA nuclear receptor signaling pathways regulating expression of ARHGAP24 Gene:

ARHGAP24

SOURCE GeneReport for Unigene cluster for ARHGAP24 Gene:

Hs.444229

mRNA Expression by UniProt/SwissProt for ARHGAP24 Gene:

Q8N264-RHG24_HUMAN
Tissue specificity: Isoform 1 is widely expressed with a higher level in kidney. Isoform 2 is mainly expressed in endothelial cells.
genes like me logo Genes that share expression patterns with ARHGAP24: view

Primer Products

No data available for mRNA differential expression in normal tissues for ARHGAP24 Gene

Orthologs for ARHGAP24 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGAP24 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP24 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia ARHGAP24 34 35
  • 92.02 (n)
cow
(Bos Taurus)
Mammalia ARHGAP24 34 35
  • 89.33 (n)
mouse
(Mus musculus)
Mammalia Arhgap24 34 16 35
  • 86.42 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap24 34
  • 84.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP24 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP24 34 35
  • 77.79 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGAP24 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgap24 34
  • 73.13 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgap24 34 35
  • 69.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta RhoGAPp190 35
  • 4 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rga-5 35
  • 5 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToMany
Species where no ortholog for ARHGAP24 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)
  • oppossum (Monodelphis domestica)
  • 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 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 ARHGAP24 Gene

ENSEMBL:
Gene Tree for ARHGAP24 (if available)
TreeFam:
Gene Tree for ARHGAP24 (if available)

Paralogs for ARHGAP24 Gene

Variants for ARHGAP24 Gene

Sequence variations from dbSNP and Humsavar for ARHGAP24 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs112475438 Uncertain significance 85,942,147(+) GGAGC(A/G)GTGCG intron-variant, reference, missense
rs10000107 -- 85,891,267(+) gagac(A/G)atggg intron-variant
rs10000253 -- 85,891,598(+) ctttt(C/T)ctgca intron-variant
rs10000472 -- 85,642,011(+) ttcaa(A/T)gtctt intron-variant, upstream-variant-2KB
rs10001486 -- 85,483,466(+) aatta(G/T)ctggg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP24 Gene

Variant ID Type Subtype PubMed ID
nsv1111278 CNV tandem duplication 24896259
nsv1074733 CNV deletion 25765185
nsv1074732 CNV deletion 25765185
nsv1074195 CNV deletion 25765185
nsv1073781 CNV deletion 25765185
nsv1073780 CNV deletion 25765185
nsv1005257 CNV gain 25217958
esv8014 CNV loss 19470904
esv7427 CNV loss 19470904
esv5098 CNV loss 18987735
esv4911 CNV loss 18987735
esv3989 CNV loss 18987735
esv3893974 CNV loss 25118596
esv3601252 CNV loss 21293372
esv3601251 CNV loss 21293372
esv3601249 CNV loss 21293372
esv3601245 CNV loss 21293372
esv3601244 CNV loss 21293372
esv3601243 CNV loss 21293372
esv3564183 CNV deletion 23714750
esv3564182 CNV deletion 23714750
esv3564180 CNV deletion 23714750
esv3564178 CNV deletion 23714750
esv3420600 CNV insertion 20981092
esv3393597 CNV insertion 20981092
esv3388062 CNV insertion 20981092
esv3341775 CNV insertion 20981092
esv3327662 CNV insertion 20981092
esv3309462 CNV mobile element insertion 20981092
esv3305527 CNV mobile element insertion 20981092
esv3300162 CNV deletion 24192839
esv2763373 CNV gain 21179565
esv274900 CNV gain+loss 21479260
esv2742711 CNV deletion 23290073
esv2727928 CNV deletion 23290073
esv2727927 CNV deletion 23290073
esv2727926 CNV deletion 23290073
esv2727925 CNV deletion 23290073
esv2727924 CNV deletion 23290073
esv2727923 CNV deletion 23290073
esv2727922 CNV deletion 23290073
esv2727921 CNV deletion 23290073
esv2676122 CNV deletion 23128226
esv2670543 CNV deletion 23128226
esv2665029 CNV deletion 23128226
esv2660474 CNV deletion 23128226
esv2597045 CNV deletion 19546169
esv2592051 CNV deletion 19546169
esv2565886 CNV deletion 19546169
esv2515650 CNV deletion 19546169
esv2509163 CNV deletion 19546169
esv24400 CNV loss 19812545
esv2425088 CNV deletion 19546169
esv2234618 CNV deletion 18987734
esv2228589 CNV deletion 18987734
esv2106659 CNV deletion 18987734
esv1993171 CNV deletion 18987734
esv1939576 CNV deletion 18987734
esv1340531 CNV deletion 17803354
esv1208111 CNV insertion 17803354
dgv2843n106 CNV deletion 24896259
nsv956422 CNV deletion 24416366
nsv956400 CNV deletion 24416366
nsv956377 CNV deletion 24416366
nsv950350 CNV duplication 24416366
nsv830000 CNV loss 17160897
nsv829999 CNV gain 17160897
nsv594756 CNV loss 21841781
nsv594755 CNV loss 21841781
nsv594747 CNV gain 21841781
nsv526211 CNV loss 19592680
nsv519588 CNV gain 19592680
nsv509910 OTHER sequence alteration 20534489
nsv477347 CNV novel sequence insertion 20440878
nsv470049 CNV loss 18288195
nsv470048 CNV gain 18288195
nsv461567 CNV loss 19166990
nsv461566 CNV gain 19166990
nsv291712 CNV deletion 16902084
nsv290889 CNV deletion 16902084
nsv289665 CNV deletion 16902084
nsv1150414 CNV deletion 26484159
nsv1145829 CNV deletion 26484159
nsv1143290 CNV deletion 24896259
nsv1139279 CNV deletion 24896259
nsv1136884 CNV deletion 24896259

Variation tolerance for ARHGAP24 Gene

Residual Variation Intolerance Score: 81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.36; 53.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGAP24 Gene

Human Gene Mutation Database (HGMD)
ARHGAP24
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP24 Gene

Disorders for ARHGAP24 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ARHGAP24 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
atypical autism
  • pdd nos
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ARHGAP24

Genetic Association Database (GAD)
ARHGAP24
Human Genome Epidemiology (HuGE) Navigator
ARHGAP24
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGAP24
genes like me logo Genes that share disorders with ARHGAP24: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP24 Gene

Publications for ARHGAP24 Gene

  1. Identification and characterization of ARHGAP24 and ARHGAP25 genes in silico. (PMID: 15254788) Katoh M. … Katoh M. (Int. J. Mol. Med. 2004) 2 3 4 22 64
  2. Characterization of a novel GTPase-activating protein associated with focal adhesions and the actin cytoskeleton. (PMID: 15611138) Lavelin I. … Geiger B. (J. Biol. Chem. 2005) 3 4 22 64
  3. A vascular cell-restricted RhoGAP, p73RhoGAP, is a key regulator of angiogenesis. (PMID: 15302923) Su Z.-J. … Gamble J.R. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 22 64
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 64
  5. Genome-wide association study of PR interval. (PMID: 20062060) Pfeufer A. … Heckbert S.R. (Nat. Genet. 2010) 3 46 64

Products for ARHGAP24 Gene

Sources for ARHGAP24 Gene

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