Gene Gene information from NCBI Gene database.
Entrez ID 57584
Gene name Rho GTPase activating protein 21
Gene symbol ARHGAP21
Synonyms (NCBI Gene)
ARHGAP10
Chromosome 10
Chromosome location 10p12.1|10p12.3
Summary ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[suppli
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1060499743 A>C Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
262
miRTarBase ID miRNA Experiments Reference
MIRT017485 hsa-miR-335-5p Microarray 18185580
MIRT030816 hsa-miR-21-5p Microarray 18591254
MIRT047126 hsa-miR-183-5p CLASH 23622248
MIRT038266 hsa-miR-361-3p CLASH 23622248
MIRT515398 hsa-miR-1277-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS
GO:0005515 Function Protein binding IPI 15161933, 15778465, 17347647, 20195357, 28514442, 33961781, 36931259
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609870 23725 ENSG00000107863
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T5U3
Protein name Rho GTPase-activating protein 21 (Rho GTPase-activating protein 10) (Rho-type GTPase-activating protein 21)
Protein function Functions as a GTPase-activating protein (GAP) for RHOA and CDC42. Downstream partner of ARF1 which may control Golgi apparatus structure and function. Also required for CTNNA1 recruitment to adherens junctions. {ECO:0000269|PubMed:15793564, ECO
PDB 2DHJ , 2J59 , 2YUY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17820 PDZ_6 103 156 PDZ domain Domain
PF00169 PH 932 1040 PH domain Domain
PF00620 RhoGAP 1162 1316 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with higher expression in brain, heart, skeletal muscle and placenta. {ECO:0000269|PubMed:12056806}.
Sequence
MMATRRTGLSEGDGDKLKACEVSKNKDGKEQSETVSLSEDETFSWPGPKTVTLKRTSQGF
GFTLRHFIVYPPESAIQFSYKDEENGNRGGKQRNRLEPMDTIFVKQVKEGGPAFEAGLCT
GDRIIKVNGESVIGKTYSQVIALIQNSDTTLELSVM
PKDEDILQVLQFTKDVTALAYSQD
AYLKGNEAYSGNARNIPEPPPICYPWLPSAPSAMAQPVEISPPDSSLSKQQTSTPVLTQP
GRAYRMEIQVPPSPTDVAKSNTAVCVCNESVRTVIVPSEKVVDLLSNRNNHTGPSHRTEE
VRYGVSEQTSLKTVSRTTSPPLSIPTTHLIHQPAGSRSLEPSGILLKSGNYSGHSDGISS
SRSQAVEAPSVSVNHYSPNSHQHIDWKNYKTYKEYIDNRRLHIGCRTIQERLDSLRAASQ
STTDYNQVVPNRTTLQGRRRSTSHDRVPQSVQIRQRSVSQERLEDSVLMKYCPRSASQGA
LTSPSVSFSNHRTRSWDYIEGQDETLENVNSGTPIPDSNGEKKQTYKWSGFTEQDDRRGI
CERPRQQEIHKSFRGSNFTVAPSVVNSDNRRMSGRGVGSVSQFKKIPPDLKTLQSNRNFQ
TTCGMSLPRGISQDRSPLVKVRSNSLKAPSTHVTKPSFSQKSFVSIKDQRPVNHLHQNSL
LNQQTWVRTDSAPDQQVETGKSPSLSGASAKPAPQSSENAGTSDLELPVSQRNQDLSLQE
AETEQSDTLDNKEAVILREKPPSGRQTPQPLRHQSYILAVNDQETGSDTTCWLPNDARRE
VHIKRMEERKASSTSPPGDSLASIPFIDEPTSPSIDHDIAHIPASAVISASTSQVPSIAT
VPPCLTTSAPLIRRQLSHDHESVGPPSLDAQPNSKTERSKSYDEGLDDYREDAKLSFKHV
SSLKGIKIADSQKSSEDSGSRKDSSSEVFSDAAKEGWLHFRPLVTDKGKRVGGSIRPWKQ
MYVVLRGHSLYLYKDKREQTTPSEEEQPISVNACLIDISYSETKRKNVFRLTTSDCECLF
QAEDRDDMLAWIKTIQESSN
LNEEDTGVTNRDLISRRIKEYNNLMSKAEQLPKTPRQSLS
IRQTLLGAKSEPKTQSPHSPKEESERKLLSKDDTSPPKDKGTWRKGIPSIMRKTFEKKPT
ATGTFGVRLDDCPPAHTNRYIPLIVDICCKLVEERGLEYTGIYRVPGNNAAISSMQEELN
KGMADIDIQDDKWRDLNVISSLLKSFFRKLPEPLFTNDKYADFIEANRKEDPLDRLKTLK
RLIHDLPEHHYETLKFLSAHLKTVAENSEKNKMEPRNLAIVFGPTLVRTSEDNMTH
MVTH
MPDQYKIVETLIQHHDWFFTEEGAEEPLTTVQEESTVDSQPVPNIDHLLTNIGRTGVSPG
DVSDSATSDSTKSKGSWGSGKDQYSRELLVSSIFAAASRKRKKPKEKAQPSSSEDELDNV
FFKKENVEQCHNDTKEESKKESETLGRKQKIIIAKENSTRKDPSTTKDEKISLGKESTPS
EEPSPPHNSKHNKSPTLSCRFAILKESPRSLLAQKSSHLEETGSDSGTLLSTSSQASLAR
FSMKKSTSPETKHSEFLANVSTITSDYSTTSSATYLTSLDSSRLSPEVQSVAESKGDEAD
DERSELISEGRPVETDSESEFPVFPTALTSERLFRGKLQEVTKSSRRNSEGSELSCTEGS
LTSSLDSRRQLFSSHKLIECDTLSRKKSARFKSDSGSLGDAKNEKEAPSLTKVFDVMKKG
KSTGSLLTPTRGESEKQEPTWKTKIADRLKLRPRAPADDMFGVGNHKVNAETAKRKSIRR
RHTLGGHRDATEISVLNFWKVHEQSGERESELSAVNRLKPKCSAQDLSISDWLARERLRT
STSDLSRGEIGDPQTENPSTREIATTDTPLSLHCNTGSSSSTLASTNRPLLSIPPQSPDQ
INGESFQNVSKNASSAANAQPHKLSETPGSKAEFHPCL
Sequence length 1958
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal brain morphology Likely pathogenic rs1060499743 RCV000454179
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colorectal cancer Likely benign rs61758699 RCV005906181
Nonpapillary renal cell carcinoma Likely benign rs61758699 RCV005906180
Ovarian serous cystadenocarcinoma Likely benign rs61758699 RCV005906182
Thymoma Likely benign rs61758699 RCV005906183
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 23200924
Cholangiocarcinoma Associate 34211100, 36676763
Glioblastoma Associate 23200924
Liver Failure Associate 30692208
Malocclusion Associate 28257739
Malocclusion Angle Class III Associate 28257739
Neoplasms Associate 30504808
Prostatic Neoplasms Associate 23200924
Squamous Cell Carcinoma of Head and Neck Stimulate 23200924