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This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]
RHPN2 (Rhophilin Rho GTPase Binding Protein 2) is a Protein Coding gene. Diseases associated with RHPN2 include Hereditary Mixed Polyposis Syndrome. Among its related pathways are Signaling by GPCR and Actin Nucleation by ARP-WASP Complex. An important paralog of this gene is RHPN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0048471 | perinuclear region of cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Rho GTPases | ||
2 | Actin Nucleation by ARP-WASP Complex |
RhoA Pathway
.35
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3 | RHO GTPases Activate Rhotekin and Rhophilins | ||
4 | Signaling by GPCR | ||
5 | G-protein signaling_RhoB regulation pathway |
G-protein signaling_RhoB regulation pathway
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RHPN2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RHPN2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RHPN2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rhpn2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rhpn2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | RHPN2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RHPN2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RHPN2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RHPN2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rhpn2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2712 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rhpn2 30 31 |
|
OneToOne | |
zgc55960 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000243 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rhp 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RIM20 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
761865 | Likely Benign: not provided | 33,011,807(-) | C/T | INTRON_VARIANT | |
777526 | Benign: not provided | 33,002,328(-) | C/G | MISSENSE_VARIANT | |
779185 | Benign: not provided | 33,002,929(-) | C/T | MISSENSE_VARIANT | |
791356 | Benign: not provided | 32,996,086(-) | A/C | MISSENSE_VARIANT | |
rs79314177 | Benign: not specified | 32,991,915(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hereditary mixed polyposis syndrome |
|
|