Gene Gene information from NCBI Gene database.
Entrez ID 394
Gene name Rho GTPase activating protein 5
Gene symbol ARHGAP5
Synonyms (NCBI Gene)
GFI2RhoGAP5p190-Bp190BRhoGAP
Chromosome 14
Chromosome location 14q12
Summary Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by R
miRNA miRNA information provided by mirtarbase database.
422
miRTarBase ID miRNA Experiments Reference
MIRT016745 hsa-miR-335-5p Microarray 18185580
MIRT021887 hsa-miR-128-3p Microarray 17612493
MIRT050904 hsa-miR-17-5p CLASH 23622248
MIRT048327 hsa-miR-106a-5p CLASH 23622248
MIRT053295 hsa-miR-486-5p ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 23474761
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0002053 Process Positive regulation of mesenchymal cell proliferation IEA
GO:0003924 Function GTPase activity TAS 8537347
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS 8537347
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602680 675 ENSG00000100852
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13017
Protein name Rho GTPase-activating protein 5 (Rho-type GTPase-activating protein 5) (p190-B)
Protein function GTPase-activating protein for Rho family members (PubMed:8537347).
PDB 2EE4 , 2EE5 , 5U4V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 142 248 Ras family Domain
PF16512 RhoGAP-FF1 260 338 p190-A and -B Rho GAPs FF domain Domain
PF01846 FF 485 545 FF domain Family
PF00620 RhoGAP 1275 1426 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in skin fibroblasts (at protein level) (PubMed:8537347). {ECO:0000269|PubMed:8537347}.
Sequence
MMAKNKEPRPPSYTISIVGLSGTEKDKGNCGVGKSCLCNRFVRSKADEYYPEHTSVLSTI
DFGGRVVNNDHFLYWGDIIQNSEDGVECKIHVIEQTEFIDDQTFLPHRSTNLQPYIKRAA
ASKLQSAEKLMYICTDQLGLEQDFEQKQMPEGKLNVDGFLLCIDVSQGCNRKFDDQLKFV
NNLFVQLSKSKKPVIIAATKCDECVDHYLREVQAFASNKKNLLVVETSARFNVNIETCFT
ALVQMLDK
TRSKPKIIPYLDAYKTQRQLVVTATDKFEKLVQTVRDYHATWKTVSNKLKNH
PDYEEYINLEGTRKARNTFSKHIEQLKQEHIRKRREEY
INTLPRAFNTLLPNLEEIEHLN
WSEALKLMEKRADFQLCFVVLEKTPWDETDHIDKINDRRIPFDLLSTLEAEKVYQNHVQH
LISEKRRVEMKEKFKKTLEKIQFISPGQPWEEVMCFVMEDEAYKYITEADSKEVYGRHQR
EIVEKAKEEFQEMLFEHSELFYDLDLNATPSSDKMSEIHTVLSEEPRYKALQKLAPDRES
LLLKH
IGFVYHPTKETCLSGQNCTDIKVEQLLASSLLQLDHGRLRLYHDSTNIDKVNLFI
LGKDGLAQELANEIRTQSTDDEYALDGKIYELDLRPVDAKSPYFLSQLWTAAFKPHGCFC
VFNSIESLSFIGEFIGKIRTEASQIRKDKYMANLPFTLILANQRDSISKNLPILRHQGQQ
LANKLQCPFVDVPAGTYPRKFNETQIKQALRGVLESVKHNLDVVSPIPANKDLSEADLRI
VMCAMCGDPFSVDLILSPFLDSHSCSAAQAGQNNSLMLDKIIGEKRRRIQITILSYHSSI
GVRKDELVHGYILVYSAKRKASMGMLRAFLSEVQDTIPVQLVAVTDSQADFFENEAIKEL
MTEGEHIATEITAKFTALYSLSQYHRQTEVFTLFFSDVLEKKNMIENSYLSDNTRESTHQ
SEDVFLPSPRDCFPYNNYPDSDDDTEAPPPYSPIGDDVQLLPTPSDRSRYRLDLEGNEYP
IHSTPNCHDHERNHKVPPPIKPKPVVPKTNVKKLDPNLLKTIEAGIGKNPRKQTSRVPLA
HPEDMDPSDNYAEPIDTIFKQKGYSDEIYVVPDDSQNRIKIRNSFVNNTQGDEENGFSDR
TSKSHGERRPSKYKYKSKTLFSKAKSYYRRTHSDASDDEAFTTSKTKRKGRHRGSEEDPL
LSPVETWKGGIDNPAITSDQELDDKKMKKKTHKVKEDKKQKKKTKNFNPPTRRNWESNYF
GMPLQDLVTAEKPIPLFVEKCVEFIEDTGLCTEGLYRVSGNKTDQDNIQKQFDQDHNINL
VSMEVTVNAVAGALKAFFADLPDPLIPYSLHPELLEAAKIPDKTERLHALKEIVKKFHPV
NYDVFRYVITHLNRVSQQHKINLMTADNLSICFWPTLMRPDFENRE
FLSTTKIHQSVVET
FIQQCQFFFYNGEIVETTNIVAPPPPSNPGQLVEPMVPLQLPPPLQPQLIQPQLQTDPLG
II
Sequence length 1502
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Focal adhesion
Leukocyte transendothelial migration
  Rho GTPase cycle
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Martsolf syndrome 1 Likely pathogenic rs2550691751 RCV002305659
Pulmonary artery atresia Pathogenic rs200111638 RCV002512186
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARHGAP5-related disorder Uncertain significance rs2550691162, rs2550690973 RCV003391655
RCV003410372
Hepatocellular carcinoma Benign rs151151743 RCV005911790
Lung cancer Benign rs151151743 RCV005911792
Sarcoma Benign rs151151743 RCV005911791
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35946559
Breast Neoplasms Associate 34370213, 36077054
Capillary Leak Syndrome Associate 29097442
Carcinoma Hepatocellular Associate 36354136
Carcinoma Squamous Cell Associate 36632741
Colorectal Neoplasms Inhibit 37845228
Critical Illness Associate 29097442
Glioma Associate 24316134
Lung Neoplasms Associate 23474761
Neoplasm Metastasis Associate 23474761, 35946559