Human Gene ARHGAP44 (ENST00000379672.10) from GENCODE V44
  Description: Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), transcript variant 1, mRNA. (from RefSeq NM_014859)
Gencode Transcript: ENST00000379672.10
Gencode Gene: ENSG00000006740.18
Transcript (Including UTRs)
   Position: hg38 chr17:12,789,498-12,991,643 Size: 202,146 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg38 chr17:12,789,839-12,990,171 Size: 200,333 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:12,789,498-12,991,643)mRNA (may differ from genome)Protein (818 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RHG44_HUMAN
DESCRIPTION: RecName: Full=Rho GTPase-activating protein 44; AltName: Full=NPC-A-10; AltName: Full=Rho-type GTPase-activating protein RICH2; AltName: Full=RhoGAP interacting with CIP4 homologs protein 2; Short=RICH-2;
FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Acts as a GTPase activitor in vitro for CDC42 and RAC1.
SUBUNIT: Interacts with BST2 (via cytoplasmic domain).
TISSUE SPECIFICITY: Highly expressed in brain. Expressed at weak level in other tissues.
SIMILARITY: Contains 1 BAR domain.
SIMILARITY: Contains 1 Rho-GAP domain.
SEQUENCE CAUTION: Sequence=AAP73805.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAP73805.1; Type=Frameshift; Positions=385; Sequence=BAA31647.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.75 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 307.71 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 -206.90341-0.607 Picture PostScript Text
3' UTR -458.901472-0.312 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
IPR004148 - BAR_dom
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom

Pfam Domains:
PF03114 - BAR domain
PF00620 - RhoGAP domain

ModBase Predicted Comparative 3D Structure on Q17R89
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
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
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0048365 Rac GTPase binding

Biological Process:
GO:0006887 exocytosis
GO:0007165 signal transduction
GO:0032956 regulation of actin cytoskeleton organization
GO:0035021 negative regulation of Rac protein signal transduction
GO:0043087 regulation of GTPase activity
GO:0043547 positive regulation of GTPase activity
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0061001 regulation of dendritic spine morphogenesis
GO:0098886 modification of dendritic spine
GO:0098887 neurotransmitter receptor transport, endosome to postsynaptic membrane

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005829 cytosol
GO:0030054 cell junction
GO:0031256 leading edge membrane
GO:0042995 cell projection
GO:0043197 dendritic spine
GO:0045202 synapse
GO:0055037 recycling endosome


-  Descriptions from all associated GenBank mRNAs
  AB014572 - Homo sapiens KIAA0672 mRNA for KIAA0672 protein.
BC070074 - Homo sapiens KIAA0672 gene product, mRNA (cDNA clone IMAGE:30338180).
BC094754 - Homo sapiens KIAA0672 gene product, mRNA (cDNA clone IMAGE:30337933).
BC143853 - Homo sapiens Rho-type GTPase-activating protein RICH2, mRNA (cDNA clone MGC:177386 IMAGE:9052369), complete cds.
BC117412 - Homo sapiens Rho-type GTPase-activating protein RICH2, mRNA (cDNA clone MGC:151021 IMAGE:40125963), complete cds.
BC117416 - Homo sapiens Rho-type GTPase-activating protein RICH2, mRNA (cDNA clone MGC:151025 IMAGE:40125967), complete cds.
BC143852 - Homo sapiens cDNA clone IMAGE:9052368.
BC143855 - Homo sapiens cDNA clone IMAGE:9052371.
BC143856 - Homo sapiens cDNA clone IMAGE:9052372.
AK294538 - Homo sapiens cDNA FLJ58097 complete cds, moderately similar to Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.
HQ258510 - Synthetic construct Homo sapiens clone IMAGE:100072939 Rho-type GTPase-activating protein RICH2 (RICH2) gene, encodes complete protein.
KJ892875 - Synthetic construct Homo sapiens clone ccsbBroadEn_02269 ARHGAP44 gene, encodes complete protein.
AB385370 - Synthetic construct DNA, clone: pF1KA0672, Homo sapiens RICH2 gene for Rho GTPase-activating protein RICH2, complete cds, without stop codon, in Flexi system.
AL096728 - Homo sapiens mRNA; cDNA DKFZp434B034 (from clone DKFZp434B034).
JD462601 - Sequence 443625 from Patent EP1572962.
JD417001 - Sequence 398025 from Patent EP1572962.
JD464583 - Sequence 445607 from Patent EP1572962.
JD417198 - Sequence 398222 from Patent EP1572962.
AY320403 - Homo sapiens nasopharyngeal carcinoma-associated antigen NPC-A-10 mRNA, complete cds.
AK023797 - Homo sapiens cDNA FLJ13735 fis, clone PLACE3000155.
BC022452 - Homo sapiens Rho-type GTPase-activating protein RICH2, mRNA (cDNA clone IMAGE:4799516), partial cds.
KJ906014 - Synthetic construct Homo sapiens clone ccsbBroadEn_15684 ARHGAP44 gene, encodes complete protein.
AL080100 - Homo sapiens mRNA; cDNA DKFZp564G2272 (from clone DKFZp564G2272).
JD255206 - Sequence 236230 from Patent EP1572962.
JD312494 - Sequence 293518 from Patent EP1572962.
JD424189 - Sequence 405213 from Patent EP1572962.
JD105084 - Sequence 86108 from Patent EP1572962.
JD189935 - Sequence 170959 from Patent EP1572962.
JD039652 - Sequence 20676 from Patent EP1572962.
JD050974 - Sequence 31998 from Patent EP1572962.
JD114912 - Sequence 95936 from Patent EP1572962.
JD316542 - Sequence 297566 from Patent EP1572962.
JD187856 - Sequence 168880 from Patent EP1572962.
JD216625 - Sequence 197649 from Patent EP1572962.
JD358269 - Sequence 339293 from Patent EP1572962.
JD175371 - Sequence 156395 from Patent EP1572962.
JD487755 - Sequence 468779 from Patent EP1572962.
JD477393 - Sequence 458417 from Patent EP1572962.
JD565708 - Sequence 546732 from Patent EP1572962.
JD391857 - Sequence 372881 from Patent EP1572962.
JD527142 - Sequence 508166 from Patent EP1572962.
JD304257 - Sequence 285281 from Patent EP1572962.
LF209112 - JP 2014500723-A/16615: Polycomb-Associated Non-Coding RNAs.
MA444689 - JP 2018138019-A/16615: Polycomb-Associated Non-Coding RNAs.

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

Protein Q17R89 (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: A8MQB2, ENST00000379672.1, ENST00000379672.2, ENST00000379672.3, ENST00000379672.4, ENST00000379672.5, ENST00000379672.6, ENST00000379672.7, ENST00000379672.8, ENST00000379672.9, KIAA0672, NM_014859, O75160, Q17R89, Q7Z5Z7, RHG44_HUMAN, RICH2, uc002gnr.1, uc002gnr.2, uc002gnr.3, uc002gnr.4, uc002gnr.5, uc002gnr.6
UCSC ID: ENST00000379672.10
RefSeq Accession: NM_014859
Protein: Q17R89 (aka RHG44_HUMAN)
CCDS: CCDS45616.1, CCDS82077.1

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