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ARHGAP40 (Rho GTPase Activating Protein 40) is a Protein Coding gene. Diseases associated with ARHGAP40 include Adams-Oliver Syndrome. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARHGAP18.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH20J038600 | Promoter/Enhancer | 1.3 | FANTOM5 Ensembl ENCODE | 634.9 | -0.4 | -406 | 0.8 | HNRNPL CTCF KDM1A ZIC2 RBFOX2 RXRB EZH2 ZNF600 ZNF341 ZBTB20 | ARHGAP40 HSALNG0129996 ADIG | |
GH20J038602 | Promoter | 0.8 | Ensembl | 600.7 | +0.3 | 291 | 0.2 | HNRNPL RBFOX2 CTCF EZH2 ZBTB20 SP2 DPF2 ZKSCAN1 ZNF335 GABPB1 | ARHGAP40 HSALNG0129996 ENSG00000213959 SLC32A1 | |
GH20J038633 | Enhancer | 1 | Ensembl ENCODE | 33 | +32.0 | 31971 | 0.6 | GATAD2A CTCF PRDM10 KDM1A RCOR2 JUND ZNF143 REST RAD21 IRF2 | ARHGAP40 LOC391247 lnc-KIAA1755-9 SLC32A1 | |
GH20J038628 | Enhancer | 0.6 | Ensembl ENCODE | 48.7 | +27.2 | 27197 | 0.8 | GABPA NR2C2 BCOR ZNF518A ZMYM3 NR2C1 | ARHGAP40 LOC391247 lnc-KIAA1755-9 SLC32A1 | |
GH20J038598 | Enhancer | 0.7 | ENCODE | 31.7 | -2.4 | -2382 | 1.2 | FOXA1 ZIC2 ZNF24 BRD9 SCRT2 ZFX ESR1 NFIC ELK1 MBD2 | HSALNG0129996 ARHGAP40 piR-57750-019 ADIG |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | p75 NTR receptor-mediated signalling |
.36
|
|
2 | Signaling by GPCR | ||
3 | Signaling by Rho GTPases |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0030833 | regulation of actin filament polymerization | IBA | 21873635 |
GO:0032956 | regulation of actin cytoskeleton organization | IBA | 21873635 |
GO:0043547 | positive regulation of GTPase activity | IEA | -- |
GO:0051056 | regulation of small GTPase mediated signal transduction | IBA,TAS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARHGAP40 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Arhgap40 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arhgap40 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | ARHGAP40 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ARHGAP40 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ARHGAP40 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arhgap40 30 |
|
||
Str.5487 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | LOC101886014 30 |
|
||
ARHGAP40 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG17082 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs16987460 | - | p.His463Asn | |||
rs6070872 | - | p.Arg413Leu | |||
rs6100455 | - | p.Gly133Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1002417 | CNV | deletion | 20482838 |
nsv1058457 | CNV | loss | 25217958 |
nsv3372 | CNV | insertion | 18451855 |
nsv475283 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adams-oliver syndrome |
|
|