Gene Gene information from NCBI Gene database.
Entrez ID 343578
Gene name Rho GTPase activating protein 40
Gene symbol ARHGAP40
Synonyms (NCBI Gene)
C20orf95dJ1100H13.4
Chromosome 20
Chromosome location 20q11.23
miRNA miRNA information provided by mirtarbase database.
56
miRTarBase ID miRNA Experiments Reference
MIRT722159 hsa-miR-4532 HITS-CLIP 19536157
MIRT722158 hsa-miR-6784-5p HITS-CLIP 19536157
MIRT722157 hsa-miR-4508 HITS-CLIP 19536157
MIRT722156 hsa-miR-187-5p HITS-CLIP 19536157
MIRT722155 hsa-miR-6131 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
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 IBA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5TG30
Protein name Rho GTPase-activating protein 40 (Rho-type GTPase-activating protein 40)
Protein function GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00620 RhoGAP 289 441 RhoGAP domain Domain
Sequence
MDQLPQKNLLRLHPAGSAGCSTGVESSSMDGFWMEVEQIQQRDELREEDSGGNEGQLPEE
GEAESQWLQDTGLSGLLGGLGLDGDHQELLSTLTQTQVAAVCRRLDIYARSVRRQHKTPV
RDVRDVFGVFNSGKMSSENGDSGMKGAQLSSGASKFPPAAEPGGLQEQAGREEAFNMDSA
YSEQAAVLLQRSRPSRGGTSAWGKCSLPKFTVPKGRLGVTRIGDLSLQDMRKVPSLALIE
LTALCDILGLDLKRSKAGKWKAAETRLFGVPLDSLLEADHKVLPSTQVPLVLQALLSCLE
KRGLDMEGILRVPGSQARVKGLEQKLERDFYAGLFSWDEVHHNDASDLLKRFIRKLPTPL
LTAEYLPAFAVVPNIPNLKQRLQVLHLLILILPEPNRNALKALLEFLRKVVAREQHNKMT
LRNVSTVMAPNLFLHQGRPPK
LPKGKEKQLAEGAAEVVQIMVHYQDLLWTVASFLVAQVR
KLNDSSSRRPQLCDAGLKTWLRRMHADRDKAGDGLEATPKVAKIQVVWPIKDPLKVPLTP
STKVAHVLRQFTEHLSPGSKGQEDSEDMDSLLLHHRSMESANILLYEVGGNINEHRLDPD
AYLLDLYRANPHGEWVLKQNPT
Sequence length 622
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
PELVIC ORGAN PROLAPSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations