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This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
RASAL2 (RAS Protein Activator Like 2) is a Protein Coding gene. Diseases associated with RASAL2 include Breast Cancer. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is DAB2IP.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | TAS,IEA | -- |
GO:0005515 | protein binding | IPI | 18985028 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Developmental Biology |
.51
|
|
3 | Cytokine Signaling in Immune system | ||
4 | HIV Life Cycle |
.45
|
|
5 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0007165 | signal transduction | IEA,TAS | 9877179 |
GO:0043087 | regulation of GTPase activity | IEA | -- |
GO:0043547 | positive regulation of GTPase activity | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RASAL2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RASAL2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RASAL2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rasal2 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RASAL2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RASAL2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RASAL2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RASAL2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rasal2 30 |
|
||
Str.11362 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1575 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rasal2 30 31 |
|
OneToOne | |
Dr.24417 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7799 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG42684 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | gap-2 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BUD2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6146 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709358 | Likely Benign: not provided | 178,443,046(+) | G/A | SYNONYMOUS_VARIANT | |
719624 | Benign: not provided | 178,441,554(+) | C/T | SYNONYMOUS_VARIANT | |
721721 | Likely Benign: not provided | 178,094,575(+) | C/A | MISSENSE_VARIANT | |
723880 | Likely Benign: not provided | 178,442,854(+) | T/C | SYNONYMOUS_VARIANT | |
723881 | Likely Benign: not provided | 178,457,833(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2534493 | CNV | deletion | 19546169 |
esv2606666 | CNV | deletion | 19546169 |
esv3416886 | CNV | duplication | 20981092 |
esv3588029 | CNV | loss | 21293372 |
esv3588030 | CNV | loss | 21293372 |
esv3588031 | CNV | loss | 21293372 |
esv3588032 | CNV | loss | 21293372 |
esv3588033 | CNV | loss | 21293372 |
nsv1142076 | CNV | tandem duplication | 24896259 |
nsv473443 | CNV | novel sequence insertion | 20440878 |
nsv508670 | CNV | deletion | 20534489 |
nsv548252 | CNV | gain | 21841781 |
nsv946518 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
breast cancer |
|
|