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The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]
GOLGA2 (Golgin A2) is a Protein Coding gene. Diseases associated with GOLGA2 include Smith-Mccort Dysplasia 1 and Mucolipidosis Iii Gamma. Among its related pathways are Vesicle-mediated transport and Neurodegenerative Diseases. Gene Ontology (GO) annotations related to this gene include protein kinase binding and syntaxin binding. An important paralog of this gene is GOLGA6B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15037601 |
GO:0008017 | microtubule binding | IDA | 26165940 |
GO:0019901 | protein kinase binding | IPI | 20332113 |
GO:0019905 | syntaxin binding | IPI | 18167358 |
GO:0042802 | identical protein binding | IPI | 27107012 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000137 | Golgi cis cisterna | IDA | 17488291 |
GO:0000139 | Golgi membrane | TAS | -- |
GO:0000922 | spindle pole | ISS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005794 | Golgi apparatus | IEA,IDA | 15229288 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport to the Golgi and subsequent modification | ||
2 | Cell Cycle, Mitotic |
.83
|
.60
|
3 | Neurodegenerative Diseases | ||
4 | Mitotic Prophase |
.57
|
|
5 | Vesicle-mediated transport |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IMP | 16489344 |
GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
GO:0007020 | microtubule nucleation | IMP | 19242490 |
GO:0007030 | Golgi organization | IBA | 21873635 |
GO:0007049 | cell cycle | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 21a | · | 21b | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | |||||||||||||||||||
SP4: | |||||||||||||||||||
SP5: | |||||||||||||||||||
SP6: | |||||||||||||||||||
SP7: | |||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GOLGA2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GOLGA2 30 |
|
||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | GOLGA2 30 |
|
||
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Golga2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Golga2 30 17 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | GOLGA2 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100492442 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.28684 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | golga2 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011337 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs146408180 | Benign: not provided | 128,258,143(-) |
C/T NM_004486.5(GOLGA2):c.2228G>A (p.Arg743His) |
MISSENSE | |
rs200462679 | Likely Benign: not provided | 128,260,612(-) |
C/T NM_004486.5(GOLGA2):c.1494G>A (p.Ala498=) |
SYNONYMOUS | |
rs201662917 | Uncertain Significance: not provided | 128,257,383(-) |
G/A NM_004486.5(GOLGA2):c.2744C>T (p.Ala915Val) |
MISSENSE | |
rs74686374 | Benign: not provided | 128,260,497(-) |
G/C NM_004486.5(GOLGA2):c.1609C>G (p.Leu537Val) |
MISSENSE | |
rs2240961 | - |
p.Arg902Gly |
Disorder | Aliases | PubMed IDs |
---|---|---|
smith-mccort dysplasia 1 |
|
|
mucolipidosis iii gamma |
|
|
vohwinkel syndrome |
|
|
dyggve-melchior-clausen disease |
|
|
encephalopathy, familial, with neuroserpin inclusion bodies |
|
|