Gene Gene information from NCBI Gene database.
Entrez ID 395
Gene name Rho GTPase activating protein 6
Gene symbol ARHGAP6
Synonyms (NCBI Gene)
RHOGAP6RHOGAPX-1
Chromosome X
Chromosome location Xp22.2
Summary This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-ac
miRNA miRNA information provided by mirtarbase database.
47
miRTarBase ID miRNA Experiments Reference
MIRT638978 hsa-miR-369-3p HITS-CLIP 23824327
MIRT638977 hsa-miR-5692b HITS-CLIP 23824327
MIRT638976 hsa-miR-5692c HITS-CLIP 23824327
MIRT638975 hsa-miR-5088-3p HITS-CLIP 23824327
MIRT638974 hsa-miR-374c-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm IMP 10699171
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300118 676 ENSG00000047648
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43182
Protein name Rho GTPase-activating protein 6 (Rho-type GTPase-activating protein 6) (Rho-type GTPase-activating protein RhoGAPX-1)
Protein function GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00620 RhoGAP 411 572 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney, heart and skeletal muscle followed by retina, lymphoblast, placenta, lung, brain, pancreas and liver.
Sequence
MSAQSLLHSVFSCSSPASSSAASAKGFSKRKLRQTRSLDPALIGGCGSDEAGAEGSARGA
TAGRLYSPSLPAESLGPRLASSSRGPPPRATRLPPPGPLCSSFSTPSTPQEKSPSGSFHF
DYEVPLGRGGLKKSMAWDLPSVLAGPASSRSASSILCSSGGGPNGIFASPRRWLQQRKFQ
SPPDSRGHPYVVWKSEGDFTWNSMSGRSVRLRSVPIQSLSELERARLQEVAFYQLQQDCD
LSCQITIPKDGQKRKKSLRKKLDSLGKEKNKDKEFIPQAFGMPLSQVIANDRAYKLKQDL
QRDEQKDASDFVASLLPFGNKRQNKELSSSNSSLSSTSETPNESTSPNTPEPAPRARRRG
AMSVDSITDLDDNQSRLLEALQLSLPAEAQSKKEKARDKKLSLNPIYRQVPRLVDSCCQH
LEKHGLQTVGIFRVGSSKKRVRQLREEFDRGIDVSLEEEHSVHDVAALLKEFLRDMPDPL
LTRELYTAFINTLLLEPEEQLGTLQLLIYLLPPCNCDTLHRLLQFLSIVARHADDNISKD
GQEVTGNKMTSLNLATIFGPNLLHKQKSSDKE
FSVQSSARAEESTAIIAVVQKMIENYEA
LFMVPPDLQNEVLISLLETDPDVVDYLLRRKASQSSSPDMLQSEVSFSVGGRHSSTDSNK
ASSGDISPYDNNSPVLSERSLLAMQEDAAPGGSEKLYRVPGQFMLVGHLSSSKSRESSPG
PRLGKDLSEEPFDIWGTWHSTLKSGSKDPGMTGSSGDIFESSSLRAGPCSLSQGNLSPNW
PRWQGSPAELDSDTQGARRTQAAAPATEGRAHPAVSRACSTPHVQVAGKAERPTARSEQY
LTLSGAHDLSESELDVAGLQSRATPQCQRPHGSGRDDKRPPPPYPGPGKPAAAAAWIQGP
PEGVETPTDQGGQAAEREQQVTQKKLSSANSLPAGEQDSPRLGDAGWLDWQRERWQIWEL
LSTDNPDALPETLV
Sequence length 974
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.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARHGAP6-related disorder Likely benign rs72558047 RCV003955911
Cholangiocarcinoma Likely benign rs1473292516 RCV005910732
Neurodevelopmental disorder Likely benign rs769596416 RCV001262663
Sarcoma Likely benign rs1473292516 RCV005910731
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aniridia Associate 27124303
Aniridia cerebellar ataxia mental deficiency Associate 27124303
Arthritis Rheumatoid Associate 30518319
Colorectal Neoplasms Associate 19960375, 22276153
Nasopharyngeal Carcinoma Associate 30909962
Uterine Cervical Neoplasms Associate 28351298