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This gene encodes a secreted chaperone protein that prevents the aggregation of other secreted proteins, including proteins that are associated with neurodegenerative and metabolic disease. The encoded protein may be best known for its role in the trafficking and activation of prohormone convertase PC2 (encoded by Gene ID: 5126). Phosphorylation of the encoded protein has been shown to have an inhibitory effect on its chaperone function. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]
SCG5 (Secretogranin V) is a Protein Coding gene. Diseases associated with SCG5 include Polyposis Syndrome, Hereditary Mixed, 1 and Hereditary Mixed Polyposis Syndrome. Gene Ontology (GO) annotations related to this gene include GTP binding and enzyme inhibitor activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004857 | enzyme inhibitor activity | ISS | -- |
GO:0005515 | protein binding | IPI | 7913882 |
GO:0005525 | GTP binding | TAS | 3134253 |
GO:0051082 | unfolded protein binding | IDA | 7913882 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0030141 | secretory granule | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | ISS | -- |
GO:0007218 | neuropeptide signaling pathway | IEA | -- |
GO:0016486 | peptide hormone processing | ISS | -- |
GO:0043086 | negative regulation of catalytic activity | IEA | -- |
GO:0046883 | regulation of hormone secretion | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SCG5 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | SCG5 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | SCG5 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | SCG5 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Scg5 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Scg5 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | SCG5 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SCG5 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | SCG5 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | scg5 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397865 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | scg5 33 33 32 |
|
OneToMany | |
zgc73132 32 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9417 32 |
|
SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs200799739 | uncertain-significance, Hereditary Mixed Polyposis | 32,691,752(+) | C/T | coding_sequence_variant, stop_gained | |
rs1000105728 | -- | 32,673,039(+) | T/G | intron_variant | |
rs1000227557 | -- | 32,666,913(+) | C/T | intron_variant | |
rs1000314072 | -- | 32,653,812(+) | A/G | intron_variant | |
rs1000347790 | -- | 32,640,591(+) | G/C | upstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4456n54 | CNV | gain | 21841781 |
esv2422296 | CNV | duplication | 17116639 |
esv2760023 | CNV | gain+loss | 17122850 |
esv3307524 | CNV | mobile element insertion | 20981092 |
esv33337 | CNV | gain+loss | 17666407 |
esv3420441 | CNV | insertion | 20981092 |
esv3581613 | CNV | loss | 25503493 |
esv3892661 | CNV | gain | 25118596 |
nsv1052620 | CNV | gain | 25217958 |
nsv1481 | CNV | deletion | 18451855 |
nsv428302 | CNV | gain+loss | 18775914 |
nsv456785 | CNV | gain | 19166990 |
nsv469587 | CNV | loss | 16826518 |
nsv483039 | CNV | gain | 15286789 |
nsv517740 | CNV | gain+loss | 19592680 |
nsv568913 | CNV | gain | 21841781 |
nsv568915 | CNV | gain | 21841781 |
nsv568916 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
polyposis syndrome, hereditary mixed, 1 |
|
|
hereditary mixed polyposis syndrome |
|
|
wolfram syndrome |
|
|
xanthogranulomatous pyelonephritis |
|
|