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Doc2a double C2, alpha [ Mus musculus (house mouse) ]

Gene ID: 13446, updated on 2-Nov-2024

Summary

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Official Symbol
Doc2aprovided by MGI
Official Full Name
double C2, alphaprovided by MGI
Primary source
MGI:MGI:109446
See related
Ensembl:ENSMUSG00000052301 AllianceGenome:MGI:109446
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable calcium-dependent phospholipid binding activity and metal ion binding activity. Involved in calcium-dependent activation of synaptic vesicle fusion and regulation of calcium ion-dependent exocytosis. Acts upstream of or within spontaneous neurotransmitter secretion. Predicted to be located in cell junction; lysosome; and nuclear lumen. Predicted to be active in glutamatergic synapse. Predicted to be extrinsic component of synaptic vesicle membrane. Is expressed in cerebral cortex. Orthologous to human DOC2A (double C2 domain alpha). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in CNS E18 (RPKM 11.6), cortex adult (RPKM 10.3) and 27 other tissues See more
Orthologs
human all
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Genomic context

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See Doc2a in Genome Data Viewer
Location:
7 F3; 7 69.25 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (126446525..126451877)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (126846983..126852705)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene TLC domain containing 3B Neighboring gene RIKEN cDNA 4930451I11 gene Neighboring gene INO80 complex subunit E Neighboring gene STARR-positive B cell enhancer ABC_E8843 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:134005673-134005856 Neighboring gene HIRA interacting protein 3 Neighboring gene TAO kinase 2 Neighboring gene STARR-positive B cell enhancer ABC_E2849 Neighboring gene transmembrane protein 219

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Role of the polybasic sequence in the Doc2alpha C2B domain in dense-core vesicle exocytosis in PC12 cells. Sato M, et al. J Neurochem, 2010 Jul. PMID 20403080
  2. Doc2alpha is an activity-dependent modulator of excitatory synaptic transmission. Sakaguchi G, et al. Eur J Neurosci, 1999 Dec. PMID 10594652
  3. 16p11.2 CNV gene Doc2α functions in neurodevelopment and social behaviors through interaction with Secretagogin. Wang QW, et al. Cell Rep, 2023 Jul 25. PMID 37354460
  4. Molecular cloning of mouse Doc2alpha and distribution of its mRNA in adult mouse brain. Naito A, et al. Brain Res Mol Brain Res, 1997 Mar. PMID 9073161
  5. Doc2b Ca(2+) binding site mutants enhance synaptic release at rest at the expense of sustained synaptic strength. Bourgeois-Jaarsma Q, et al. Sci Rep, 2019 Oct 8. PMID 31594980, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
    Title: Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
  2. Synaptotagmin 7 docks synaptic vesicles to support facilitation and Doc2alpha-triggered asynchronous release.
    Title: Synaptotagmin 7 docks synaptic vesicles to support facilitation and Doc2α-triggered asynchronous release.
  3. 16p11.2 CNV gene Doc2alpha functions in neurodevelopment and social behaviors through interaction with Secretagogin.
    Title: 16p11.2 CNV gene Doc2α functions in neurodevelopment and social behaviors through interaction with Secretagogin.
  4. Ca(2+) sensor proteins in spontaneous release and synaptic plasticity: Limited contribution of Doc2c, rabphilin-3a and synaptotagmin 7 in hippocampal glutamatergic neurons.
    Title: Ca(2+) sensor proteins in spontaneous release and synaptic plasticity: Limited contribution of Doc2c, rabphilin-3a and synaptotagmin 7 in hippocampal glutamatergic neurons.
  5. Doc2b Ca(2+) binding site mutants enhance synaptic release at rest at the expense of sustained synaptic strength.
    Title: Doc2b Ca(2+) binding site mutants enhance synaptic release at rest at the expense of sustained synaptic strength.
  6. Doc2 Proteins Are Not Required for the Increased Spontaneous Release Rate in Synaptotagmin-1-Deficient Neurons.
    Title: Doc2 Proteins Are Not Required for the Increased Spontaneous Release Rate in Synaptotagmin-1-Deficient Neurons.
  7. Doc2alpha promoted glutamatergic spontaneous neurotransmitter release, while Doc2beta and syt1 both regulated GABAergic spontaneous neurotransmitter release.
    Title: Excitatory and Inhibitory Neurons Utilize Different Ca(2+) Sensors and Sources to Regulate Spontaneous Release.
  8. study identifies a critical role for DOC2B in insulin-stimulated glucose uptake in adipocytes, and for the synergistic regulation of GSIS by DOC2A and DOC2B in beta cells.
    Title: DOC2 isoforms play dual roles in insulin secretion and insulin-stimulated glucose uptake.
  9. The polybasic sequence in the C2B domain functions as a binding site for syntaxin-1a/SNAP-25 heterodimer and controls the number of 'readily releasable' vesicles in neuroendocrine cells.
    Title: Role of the polybasic sequence in the Doc2alpha C2B domain in dense-core vesicle exocytosis in PC12 cells.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (1)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium-dependent phospholipid binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in calcium-dependent activation of synaptic vesicle fusion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium-dependent activation of synaptic vesicle fusion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in calcium-dependent activation of synaptic vesicle fusion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in calcium-dependent activation of synaptic vesicle fusion ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of calcium ion-dependent exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of calcium ion-dependent exocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of calcium ion-dependent exocytosis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within spontaneous neurotransmitter secretion IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within spontaneous neurotransmitter secretion IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cell junction ISO
Inferred from Sequence Orthology
more info
  
is_active_in extrinsic component of synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extrinsic component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in extrinsic component of synaptic vesicle membrane ISO
Inferred from Sequence Orthology
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
located_in lysosome ISO
Inferred from Sequence Orthology
more info
  
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
double C2-like domain-containing protein alpha
Names
doc2-alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001368355.1 → NP_001355284.1  double C2-like domain-containing protein alpha

    Status: VALIDATED

    Source sequence(s)
    AC124505
    Consensus CDS
    CCDS21847.1
    UniProtKB/Swiss-Prot
    Q7TNF0
    UniProtKB/TrEMBL
    O35527
    Conserved Domains (2) summary
    cd04035
    Location:95 → 218
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:259 → 391
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain

  2. NM_001368356.2 → NP_001355285.1  double C2-like domain-containing protein alpha

    Status: VALIDATED

    Source sequence(s)
    AC124505
    Consensus CDS
    CCDS21847.1
    UniProtKB/Swiss-Prot
    Q7TNF0
    UniProtKB/TrEMBL
    O35527
    Conserved Domains (2) summary
    cd04035
    Location:95 → 218
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:259 → 391
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain

  3. NM_001368357.1 → NP_001355286.1  double C2-like domain-containing protein alpha

    Status: VALIDATED

    Source sequence(s)
    AC124505
    Consensus CDS
    CCDS21847.1
    UniProtKB/Swiss-Prot
    Q7TNF0
    UniProtKB/TrEMBL
    O35527
    Conserved Domains (2) summary
    cd04035
    Location:95 → 218
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:259 → 391
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain

  4. NM_001368358.1 → NP_001355287.1  double C2-like domain-containing protein alpha

    Status: VALIDATED

    Source sequence(s)
    AC124505
    Consensus CDS
    CCDS21847.1
    UniProtKB/Swiss-Prot
    Q7TNF0
    UniProtKB/TrEMBL
    O35527
    Conserved Domains (2) summary
    cd04035
    Location:95 → 218
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:259 → 391
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain

  5. NM_001412324.1 → NP_001399253.1  double C2-like domain-containing protein alpha

    Status: VALIDATED

    Source sequence(s)
    AC124505
    UniProtKB/Swiss-Prot
    Q7TNF0

  6. NM_010069.2 → NP_034199.1  double C2-like domain-containing protein alpha

    See identical proteins and their annotated locations for NP_034199.1

    Status: VALIDATED

    Source sequence(s)
    AC124505
    Consensus CDS
    CCDS21847.1
    UniProtKB/Swiss-Prot
    Q7TNF0
    UniProtKB/TrEMBL
    O35527
    Related
    ENSMUSP00000070119.8, ENSMUST00000064110.14
    Conserved Domains (2) summary
    cd04035
    Location:95 → 218
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:259 → 391
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain

RNA

  1. NR_178187.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC124505

  2. NR_178188.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC124505

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    126446525..126451877
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036152641.1 → XP_036008534.1  double C2-like domain-containing protein alpha isoform X1

    UniProtKB/Swiss-Prot
    Q7TNF0
    UniProtKB/TrEMBL
    O35527
    Conserved Domains (2) summary
    cd04035
    Location:95 → 218
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:259 → 391
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain

  2. XM_036152642.1 → XP_036008535.1  double C2-like domain-containing protein alpha isoform X1

    UniProtKB/Swiss-Prot
    Q7TNF0
    UniProtKB/TrEMBL
    O35527
    Conserved Domains (2) summary
    cd04035
    Location:95 → 218
    C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain
    cd08384
    Location:259 → 391
    C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7TNF0.1 GenPept UniProtKB/Swiss-Prot:Q7TNF0

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