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The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PLEKHG4 (Pleckstrin Homology And RhoGEF Domain Containing G4) is a Protein Coding gene. Diseases associated with PLEKHG4 include Spinocerebellar Ataxia 4 and Israeli Tick Typhus. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG4B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0090630 | activation of GTPase activity | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - |
ExUns: | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26a | · | 26b | ^ | 27a | · | 27b | · | 27c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | PLEKHG4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PLEKHG4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PLEKHG4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Plekhg4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Plekhg4 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PLEKHG4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PLEKHG4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PLEKHG4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PLEKHG4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | plekhg4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | plekhg4 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG33275 31 |
|
ManyToMany | |
CG30456 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8422 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
770254 | Benign: not provided | 67,285,354(+) | A/G | MISSENSE_VARIANT | |
808058 | Uncertain Significance: not provided | 67,281,107(+) | C/T | SYNONYMOUS_VARIANT | |
rs11860295 | Likely Benign: not specified. - | 67,282,331(+) | C/Tp.Thr412Ile | MISSENSE_VARIANT | |
rs3868142 | Likely Benign: not specified. - | 67,286,320(+) | G/Ap.Arg830His | MISSENSE_VARIANT | |
rs8044843 | Likely Benign: not specified. - | 67,284,339(+) | A/Gp.Asp525Gly | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1144771 | CNV | deletion | 24896259 |
nsv457513 | CNV | loss | 19166990 |
nsv471092 | CNV | gain | 18288195 |
nsv522852 | CNV | gain | 19592680 |
nsv524363 | CNV | loss | 19592680 |
nsv524492 | CNV | loss | 19592680 |
nsv572905 | CNV | loss | 21841781 |
nsv572906 | CNV | loss | 21841781 |
nsv827707 | CNV | loss | 20364138 |
nsv827708 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia 4 |
|
|
israeli tick typhus |
|
|
epidemic typhus |
|
|
autosomal dominant cerebellar ataxia type iii |
|
|
siberian tick typhus |
|
|