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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Martsolf syndrome 1 Likely pathogenic rs2550691751 RCV002305659
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary artery atresia Pathogenic rs200111638 RCV002512186
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARHGAP5-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF PULMONARY ARTERY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 10939588
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 34370213, 36077054 Associate
★☆☆☆☆
Found in Text Mining only
Capillary Leak Syndrome Capillary leak syndrome Pubtator 29097442 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36354136 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 23474761
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36632741 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37845228 Inhibit
★☆☆☆☆
Found in Text Mining only
Critical Illness Critical illness Pubtator 29097442 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 24316134 Associate
★☆☆☆☆
Found in Text Mining only