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

Summary

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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
Title: Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
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.
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.
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.
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.
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.
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.
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.
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.

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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

AI854876 (e-PCR)
- UniSTS:164369

PMC21657P1 (e-PCR)
- UniSTS:272065

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)

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

Status: VALIDATED

Source sequence(s)

AC124505

UniProtKB/Swiss-Prot

Q7TNF0
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

NR_178187.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC124505
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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

126446525..126451877

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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