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There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
DOC2A (Double C2 Domain Alpha) is a Protein Coding gene. Diseases associated with DOC2A include Autism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and syntaxin binding. An important paralog of this gene is DOC2B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 18354201 |
GO:0005544 | calcium-dependent phospholipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005764 | lysosome | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030054 | cell junction | IEA,IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006887 | exocytosis | IEA | -- |
GO:0007268 | chemical synaptic transmission | TAS | 7826360 |
GO:0007399 | nervous system development | TAS | 7826360 |
GO:0016079 | synaptic vesicle exocytosis | IEA | -- |
GO:0017158 | regulation of calcium ion-dependent exocytosis | IMP | 18354201 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DOC2A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DOC2A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DOC2A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Doc2a 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DOC2A 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Doc2a 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DOC2A 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DOC2A 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-93n13.3 30 |
|
||
DOC2A 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | rabphilin-3A 32 |
|
|
|
Rph 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | rbf-1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
725630 | Benign: not provided | 30,006,262(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
769898 | Benign: not provided | 30,010,081(-) | C/T | MISSENSE_VARIANT | |
770252 | Benign: not provided | 30,006,215(-) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
787686 | Likely Benign: not provided | 30,006,685(-) | TG/T | INTRON_VARIANT | |
789833 | Benign: not provided | 30,006,952(-) | C/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3638378 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autism |
|
|