Doc2b double C2, beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Doc2bprovided by MGI
Official Full Name: double C2, betaprovided by MGI
Primary source: MGI:MGI:1100497
See related: Ensembl:ENSMUSG00000020848 AllianceGenome:MGI:1100497
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: The protein encoded by this gene is a calcium sensor involved in glucose-stimulated insulin secretion, spontaneous neurotransmitter release, and enhanced SNARE-dependent vesicle fusion. [provided by RefSeq, Sep 2015]
Expression: Biased expression in cerebellum adult (RPKM 8.0), adrenal adult (RPKM 5.7) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B5; 11 45.92 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (75659096..75686886, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (75768270..75796060, complement)

Chromosome 11 - NC_000077.7 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
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.
DOC2B is a negative regulator of Wnt/beta-catenin signaling pathway in cervical cancer.
Title: DOC2B is a negative regulator of Wnt/β-catenin signaling pathway in cervical cancer.
Metastatic suppression by DOC2B is mediated by inhibition of epithelial-mesenchymal transition and induction of senescence.
Title: Metastatic suppression by DOC2B is mediated by inhibition of epithelial-mesenchymal transition and induction of senescence.
Loss of Doc2b does not influence transmission at Purkinje cell to deep nuclei synapses under physiological conditions.
Title: Loss of Doc2b does not influence transmission at Purkinje cell to deep nuclei synapses under physiological conditions.
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.
DOC2B collaborates with KLC1 to regulate insulin-stimulated GLUT4 accumulation at the plasma membrane and regulates insulin sensitivity
Title: DOC2B promotes insulin sensitivity in mice via a novel KLC1-dependent mechanism in skeletal muscle.
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.
Reduction of DOC2B is an early feature of T1 diabetes (T1D), and DOC2B abundance may serve as a valuable in vivo indicator of beta-cell mass and an early biomarker of T1D.
Title: Exocytosis Protein DOC2B as a Biomarker of Type 1 Diabetes.
Doc2b enrichment in the beta-cell protects against diabetogenic and proapoptotic stress.
Title: Doc2b Protects β-Cells Against Inflammatory Damage and Enhances Function.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
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

D11Jcs8 (e-PCR), detects polymorphism
- UniSTS:461964

D85037 (e-PCR)
- UniSTS:163506

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium-dependent phospholipid binding	ISO Inferred from Sequence Orthology more info
enables calcium-dependent phospholipid binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion-regulated exocytosis of neurotransmitter	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion-regulated exocytosis of neurotransmitter	ISO Inferred from Sequence Orthology more info
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 positive regulation of calcium ion-dependent exocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of calcium ion-dependent exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vesicle fusion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vesicle fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
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
part_of SNARE complex	ISO Inferred from Sequence Orthology more info
part_of SNARE complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in presynapse	IEA Inferred from Electronic Annotation 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 beta

Names: doc2-beta; double C2 protein beta

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_007873.3 → NP_031899.2 double C2-like domain-containing protein beta

See identical proteins and their annotated locations for NP_031899.2

Status: REVIEWED

Source sequence(s)

AL669897, BB624126, BC067030

Consensus CDS

CCDS25057.1

UniProtKB/Swiss-Prot

P70169, Q5SS41, Q6NXK3

Related

ENSMUSP00000021209.8, ENSMUST00000021209.8

Conserved Domains (2) summary

cd04035
Location:127 → 250

C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain

cd08384
Location:269 → 401

C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain