Human Gene ARHGAP24 (uc003hpm.3) Description and Page Index
  Description: Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 2, mRNA.
RefSeq Summary (NM_031305): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:86,851,426-86,923,823 Size: 72,398 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr4:86,852,084-86,921,875 Size: 69,792 Coding Exon Count: 7 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:86,851,426-86,923,823)mRNA (may differ from genome)Protein (655 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ARHGAP24
CDC HuGE Published Literature: ARHGAP24
Positive Disease Associations: E-Selectin , Echocardiography , Electrocardiography , Varicose Veins
Related Studies:
  1. E-Selectin
    Andrew D Paterson et al. Arteriosclerosis, thrombosis, and vascular biology 2009, Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin., Arteriosclerosis, thrombosis, and vascular biology. [PubMed 19729612]
    ABO is a major locus for serum soluble E-selectin levels. We excluded population stratification, fine-mapped the association to sub-A alleles, and also document association with additional variation in the ABO region.
  2. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
  3. Electrocardiography
    Arne Pfeufer et al. Nature genetics 2010, Genome-wide association study of PR interval., Nature genetics. [PubMed 20062060]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ARHGAP24
Diseases sorted by gene-association score: glomerulosclerosis, focal segmental, 1* (101), atypical autism (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.35 RPKM in Kidney - Cortex
Total median expression: 156.88 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 -189.70658-0.288 Picture PostScript Text
3' UTR -503.791948-0.259 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
  Pfam Domains:
PF00620 - RhoGAP domain

SCOP Domains:
48350 - GTPase activation domain, GAP

ModBase Predicted Comparative 3D Structure on Q8N264-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
     Gene Details
     Gene Sorter
     SGD
     Protein Sequence
     Alignment

-  Descriptions from all associated GenBank mRNAs
  AK091196 - Homo sapiens cDNA FLJ33877 fis, clone CTONG2007072, weakly similar to N-CHIMAERIN.
AX746841 - Sequence 366 from Patent EP1308459.
BC047918 - Homo sapiens Rho GTPase activating protein 24, mRNA (cDNA clone IMAGE:6190186), complete cds.
BC098580 - Homo sapiens Rho GTPase activating protein 24, mRNA (cDNA clone MGC:111398 IMAGE:30923119), complete cds.
AK098193 - Homo sapiens cDNA FLJ40874 fis, clone UMVEN1000186, highly similar to Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.
AK307423 - Homo sapiens cDNA, FLJ97371.
AL136646 - Homo sapiens mRNA; cDNA DKFZp564B1162 (from clone DKFZp564B1162).
AK308019 - Homo sapiens cDNA, FLJ97967.
AY211925 - Homo sapiens sarcoma antigen NY-SAR-88 mRNA, partial cds.
JD530107 - Sequence 511131 from Patent EP1572962.
JD079044 - Sequence 60068 from Patent EP1572962.
JD396964 - Sequence 377988 from Patent EP1572962.
JD431800 - Sequence 412824 from Patent EP1572962.
JD197577 - Sequence 178601 from Patent EP1572962.
JD173253 - Sequence 154277 from Patent EP1572962.
JD323349 - Sequence 304373 from Patent EP1572962.
JD036465 - Sequence 17489 from Patent EP1572962.
JD374705 - Sequence 355729 from Patent EP1572962.
JD396195 - Sequence 377219 from Patent EP1572962.
JD357695 - Sequence 338719 from Patent EP1572962.
JD298068 - Sequence 279092 from Patent EP1572962.
JD482134 - Sequence 463158 from Patent EP1572962.
JD350092 - Sequence 331116 from Patent EP1572962.
JD506376 - Sequence 487400 from Patent EP1572962.
JD365802 - Sequence 346826 from Patent EP1572962.
JD499520 - Sequence 480544 from Patent EP1572962.
JD253675 - Sequence 234699 from Patent EP1572962.
JD421638 - Sequence 402662 from Patent EP1572962.
JD061092 - Sequence 42116 from Patent EP1572962.
JD167240 - Sequence 148264 from Patent EP1572962.
JD255280 - Sequence 236304 from Patent EP1572962.
JD412159 - Sequence 393183 from Patent EP1572962.
JD379956 - Sequence 360980 from Patent EP1572962.
JD094576 - Sequence 75600 from Patent EP1572962.
JD049446 - Sequence 30470 from Patent EP1572962.
JD062329 - Sequence 43353 from Patent EP1572962.
JD331654 - Sequence 312678 from Patent EP1572962.
JD359553 - Sequence 340577 from Patent EP1572962.
JD198856 - Sequence 179880 from Patent EP1572962.
JD312388 - Sequence 293412 from Patent EP1572962.
JD196374 - Sequence 177398 from Patent EP1572962.
JD305926 - Sequence 286950 from Patent EP1572962.
JD525635 - Sequence 506659 from Patent EP1572962.

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

Protein Q8N264 (Reactome details) participates in the following event(s):

R-HSA-194922 GAPs inactivate Rho GTPase:GTP by hydrolysis
R-HSA-194840 Rho GTPase cycle
R-HSA-194315 Signaling by Rho GTPases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: FILGAP, NM_031305, NP_112595, Q8N264-2
UCSC ID: uc003hpm.3
RefSeq Accession: NM_031305
Protein: Q8N264-2, splice isoform of Q8N264 CCDS: CCDS3611.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_031305.2
exon count: 7CDS single in 3' UTR: no RNA size: 4574
ORF size: 1968CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3677.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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