Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57514
Gene name Gene Name - the full gene name approved by the HGNC.
Rho GTPase activating protein 31
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARHGAP31
Synonyms (NCBI Gene) Gene synonyms aliases
AOS, AOS1, CDGAP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AOS1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q13.32-q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulate
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs139733647 G>A,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs200233879 C>A,T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs200598971 C>G,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs201519981 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, 5 prime UTR variant
rs201927115 C>G Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT660539 hsa-miR-4735-5p HITS-CLIP 23824327
MIRT660538 hsa-miR-33a-5p HITS-CLIP 23824327
MIRT660537 hsa-miR-33b-5p HITS-CLIP 23824327
MIRT660536 hsa-miR-576-5p HITS-CLIP 23824327
MIRT660535 hsa-miR-3680-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0005925 Component Focal adhesion IEA
GO:0007264 Process Small GTPase mediated signal transduction IBA 21873635
GO:0017124 Function SH3 domain binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610911 29216 ENSG00000031081
Protein
UniProt ID Q2M1Z3
Protein name Rho GTPase-activating protein 31 (Cdc42 GTPase-activating protein)
Protein function Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00620 RhoGAP 35 187 RhoGAP domain Domain
Sequence
MKNKGAKQKLKRKGAASAFGCDLTEYLESSGQDVPYVLKSCAEFIETHGIVDGIYRLSGV
TSNIQRLRQEFGSDQCPDLTREVYLQDIHCVGSLCKLYFRELPNPLLTYELYEKFTEAVS
HCPEEGQLARIQNVIQELPPSHYRTLEYLIRHLAHIASFSSKTNMHARNLALVWAPNLLR
SKEIEAT
GCNGDAAFLAVRVQQVVIEFILNHVDQIFNNGAPGSLENDENRPIMKSLTLPA
LSLPMKLVSLEEAQARSLATNHPARKERRENSLPEIVPPMGTLFHTVLELPDNKRKLSSK
SKKWKSIFNLGRSGSDSKSKLSRNGSVFVRGQRLSVEKATIRPAKSMDSLCSVPVEGKET
KGNFNRTVTTGGFFIPATKMHSTGTGSSCDLTKQEGEWGQEGMPPGAEGGFDVSSDRSHL
QGAQARPPPEQLKVFRPVEDPESEQTAPKMLGMFYTSNDSPSKSVFTSSLFQMEPSPRNQ
RKALNISEPFAVSVPLRVSAVISTNSTPCRTPPKELQSLSSLEEFSFHGSESGGWPEEEK
PLGAETSAASVPKKAGLEDAKAVPEAPGTVECSKGLSQEPGAHLEEKKTPESSLSSQHLN
ELEKRPNPEKVVEEGREAGEMESSTLQESPRARAEAVLLHEMDEDDLANALIWPEIQQEL
KIIESEEELSSLPPPALKTSPIQPILESSLGPFIPSEPPGSLPCGSFPAPVSTPLEVWTR
DPANQSTQGASTAASREKPEPEQGLHPDLASLAPLEIVPFEKASPQATVEVGGPGNLSPP
LPPAPPPPTPLEESTPVLLSKGGPEREDSSRKLRTDLYIDQLKSQDSPEISSLCQGEEAT
PRHSDKQNSKNAASEGKGCGFPSPTREVEIVSQEEEDVTHSVQEPSDCDEDDTVTDIAQH
GLEMVEPWEEPQWVTSPLHSPTLKDAHKAQVQGLQGHQLEKRLSHRPSLRQSHSLDSKPT
VKSQWTLEVPSSSSCANLETERNSDPLQPQAPRREITGWDEKALRSFREFSGLKGAEAPP
NQKGPSGVQPNPAETSPISLAEGKELGTHLGHSSPQIRQGGVPGPESSKESSPSVQDSTS
PGEHPAKLQLKSTECGPPKGKNRPSSLNLDPAIPIADLFWFENVASFSSPGMQVSEPGDP
KVTWMTSSYCKADPWRVYSQDPQDLDIVAHALTGRRNSAPVSVSAVRTSFMVKMCQARAV
PVIPPKIQYTQIPQPLPSQSSGENGVQPLERSQEGPSSTSGTTQKPAKDDSPSSLESSKE
EKPKQDPGAIKSSPVDATAPCMCEGPTLSPEPGSSNLLSTQDAVVQCRKRMSETEPSGDN
LLSSKLERPSGGSKPFHRSRPGRPQSLILFSPPFPIMDHLPPSSTVTDSKVLLSPIRSPT
QTVSPGLLCGELAENTWVTPEGVTLRNKMTIPKNGQRLETSTSCFYQPQRRSVILDGRSG
RQIE
Sequence length 1444
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adams-oliver syndrome Adams Oliver syndrome, Adams-Oliver syndrome 1, Adams-Oliver syndrome rs41309764, rs387907031, rs1559999373, rs1226716539, rs387907270, rs387907271, rs397509398, rs397509399, rs587776993, rs587776994, rs587776995, rs587781259, rs587777735, rs587777736, rs730882238
View all (56 more)
21565291, 29924900, 28160419, 474617
Aplasia cutis congenita Aplasia Cutis Congenita, Aplasia cutis congenita over posterior parietal area, Congenital defect of skull and scalp rs587777706
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Autoimmune diseases Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 rs869025224 30595370, 21383967
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 21150878 ClinVar
Celiac disease Celiac Disease, Celiac disease 20190752, 22057235 ClinVar, GWAS
Cirrhosis Cirrhosis ClinVar
Porencephalic cyst Porencephalic cyst ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adams Oliver syndrome Associate 21565291, 26299364, 29924900, 33655927
Anophthalmos with limb anomalies Associate 21565291
Attention Deficit Disorder with Hyperactivity Associate 21651830
Central Nervous System Vascular Malformations Associate 33655927
Coronary Artery Disease Associate 17357071, 19706030
Ectodermal Dysplasia Associate 21565291
Familial Exudative Vitreoretinopathies Associate 33655927
Hypertensive Retinopathy Associate 33655927
Lupus Erythematosus Systemic Associate 25890262
Microcephaly Associate 33655927