Free for academic non-profit institutions. Other users need a Commercial license
GARNL3 (GTPase Activating Rap/RanGAP Domain Like 3) is a Protein Coding gene. Diseases associated with GARNL3 include Developmental And Epileptic Encephalopathy 4 and Nail-Patella Syndrome. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is SIPA1L1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
Symbol | External ID(s) | Details |
---|---|---|
ARL6 | ||
ENSG00000272822 | ||
ERAS | ||
HRAS | ||
KRAS |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0043547 | positive regulation of GTPase activity | IEA | -- |
GO:0051056 | regulation of small GTPase mediated signal transduction | IEA | -- |
GO:0090630 | activation of GTPase activity | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 20 | ^ | 21a | · | 21b | · | 21c | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30a | · | 30b | · | 30c | ^ | 31 | ^ | 32a | · | 32b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GARNL3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GARNL3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GARNL3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Garnl3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GARNL3 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Garnl3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | GARNL3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GARNL3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | garnl3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | GARNL3 31 |
|
OneToOne | |
garnl3 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002573 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG42629 31 |
|
ManyToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sipa-1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11550746 | - |
p.His108Arg |
|||
rs34608132 | - |
p.Ala752Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv24866 | CNV | loss | 19812545 |
esv2492436 | CNV | deletion | 19546169 |
esv2676607 | CNV | deletion | 23128226 |
esv2739049 | CNV | deletion | 23290073 |
esv3303990 | CNV | mobile element insertion | 20981092 |
esv3446884 | CNV | insertion | 20981092 |
esv3621777 | CNV | loss | 21293372 |
esv3621778 | CNV | loss | 21293372 |
esv3621780 | CNV | loss | 21293372 |
nsv1042177 | CNV | loss | 25217958 |
nsv516966 | CNV | gain+loss | 19592680 |
nsv521594 | CNV | loss | 19592680 |
nsv523364 | CNV | loss | 19592680 |
nsv525053 | CNV | loss | 19592680 |
nsv527127 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
developmental and epileptic encephalopathy 4 |
|
|
nail-patella syndrome |
|
|
stxbp1 encephalopathy |
|
|
dravet syndrome |
|
|
early infantile epileptic encephalopathy |
|
|