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This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
SBF2 (SET Binding Factor 2) is a Protein Coding gene. Diseases associated with SBF2 include Charcot-Marie-Tooth Disease, Type 4B2 and Charcot-Marie-Tooth Disease. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and phosphatidylinositol binding. An important paralog of this gene is SBF1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 15998640 |
GO:0017112 | Rab guanyl-nucleotide exchange factor activity | IDA | 20937701 |
GO:0019208 | phosphatase regulator activity | IEA | -- |
GO:0019902 | phosphatase binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005768 | endosome | IEA | -- |
GO:0005774 | vacuolar membrane | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0010008 | endosome membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | RAB GEFs exchange GTP for GDP on RABs |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006914 | autophagy | IEA | -- |
GO:0042552 | myelination | NAS | 15998640 |
GO:0043087 | regulation of GTPase activity | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SBF2 30 |
|
||
Dog (Canis familiaris) |
Mammalia | SBF2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SBF2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Sbf2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | RGD1559442 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SBF2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SBF2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SBF2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sbf2 30 |
|
||
Str.20171 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8649 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sbf2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Sbf 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003366 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | mtm-5 30 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3355 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637851 | Uncertain Significance: Charcot-Marie-Tooth disease | 9,968,404(-) | G/A | NONSENSE | |
637852 | Uncertain Significance: Charcot-Marie-Tooth disease | 9,808,144(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
637853 | Uncertain Significance: Charcot-Marie-Tooth disease | 9,789,259(-) | A/C | NONSENSE | |
637854 | Conflicting Interpretations: Charcot-Marie-Tooth disease, type 4B2; Charcot-Marie-Tooth disease | 9,807,999(-) | C/G | NON_CODING_TRANSCRIPT_VARIANT | |
637855 | Uncertain Significance: Charcot-Marie-Tooth disease | 9,993,091(-) | G/A | NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, type 4b2 |
|
|
charcot-marie-tooth disease |
|
|
neuropathy, congenital hypomyelinating, 1, autosomal recessive |
|
|
charcot-marie-tooth disease/hereditary motor and sensory neuropathy |
|
|
early-onset glaucoma |
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|