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Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
CPLX2 (Complexin 2) is a Protein Coding gene. Diseases associated with CPLX2 include Huntington Disease and Schizophrenia. Among its related pathways are Neuroscience and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include syntaxin binding and SNARE binding. An important paralog of this gene is CPLX1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | IBA | 21873635 |
GO:0017075 | syntaxin-1 binding | IBA | 21873635 |
GO:0019905 | syntaxin binding | IEA | -- |
GO:0048306 | calcium-dependent protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO:0030425 | dendrite | IEA | -- |
GO:0031201 | SNARE complex | IBA | 21873635 |
GO:0042629 | mast cell granule | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Synaptic vesicle cycle | ||
2 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006836 | neurotransmitter transport | IEA | -- |
GO:0006887 | exocytosis | IEA | -- |
GO:0006904 | vesicle docking involved in exocytosis | TAS | 7553862 |
GO:0007399 | nervous system development | IEA | -- |
GO:0016079 | synaptic vesicle exocytosis | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
oppossum (Monodelphis domestica) |
Mammalia | CPLX2 33 |
|
OneToOne | |
chimpanzee (Pan troglodytes) |
Mammalia | CPLX2 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CPLX2 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CPLX2 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Cplx2 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Cplx2 32 |
|
||
chicken (Gallus gallus) |
Aves | CPLX2 33 |
|
OneToOne | |
LOC100857281 32 |
|
||||
tropical clawed frog (Silurana tropicalis) |
Amphibia | cplx2 32 |
|
||
Str.15513 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68923 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | cplx2 33 32 |
|
ManyToMany |
SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000003219 | -- | 175,840,157(+) | TTTTTT/TTTTT | genic_upstream_transcript_variant, intron_variant | |
rs1000031761 | -- | 175,882,174(+) | G/A | 3_prime_UTR_variant | |
rs1000040278 | -- | 175,802,505(+) | T/C | genic_upstream_transcript_variant, intron_variant | |
rs1000050367 | -- | 175,841,081(+) | A/AGA | genic_upstream_transcript_variant, intron_variant | |
rs1000059782 | -- | 175,882,009(+) | G/C | 3_prime_UTR_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2663183 | CNV | deletion | 23128226 |
esv3607656 | CNV | loss | 21293372 |
nsv462538 | CNV | loss | 19166990 |
nsv475505 | CNV | novel sequence insertion | 20440878 |
nsv950450 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
huntington disease |
|
|
schizophrenia |
|