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Aliases for DOC2B Gene

Aliases for DOC2B Gene

  • Double C2 Domain Beta 2 3 5
  • Double C2-Like Domains, Beta 2 3
  • Doc2-Beta 3 4
  • DOC2BL 3 4
  • Double C2-Like Domain-Containing Protein Beta 3
  • Double C2-Like Domains, Beta-Like 2

External Ids for DOC2B Gene

Previous HGNC Symbols for DOC2B Gene

  • DOC2BL

Previous GeneCards Identifiers for DOC2B Gene

  • GC17P000349
  • GC17M000091
  • GC17P9O0017
  • GC17P8G0009
  • GC17M000007

Summaries for DOC2B Gene

Entrez Gene Summary for DOC2B Gene

  • 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. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for DOC2B Gene

DOC2B (Double C2 Domain Beta) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is DOC2A.

UniProtKB/Swiss-Prot for DOC2B Gene

  • Calcium sensor which positively regulates SNARE-dependent fusion of vesicles with membranes. Binds phospholipids in a calcium-dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium-triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma membrane in adipocytes (By similarity).

Gene Wiki entry for DOC2B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOC2B Gene

Genomics for DOC2B Gene

Regulatory Elements for DOC2B Gene

Enhancers for DOC2B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F000381 1.4 FANTOM5 Ensembl ENCODE 12.1 -201.7 -201689 3.0 ELF3 MLX BMI1 THRB RAD21 YY1 RARA CREM SP5 CEBPB C17orf97 DOC2B RFLNB RPH3AL GC17M000276
GH17F000232 0.8 ENCODE 18.5 -52.2 -52170 2.4 SOX13 CTCF TFAP4 SAP130 MLX MAX THRB ZNF644 RAD21 RARA DOC2B FAM57A RPH3AL TIMM22 CCL3P1 LOC100996750
GH17F000689 1.4 FANTOM5 Ensembl ENCODE 10.4 -511.4 -511367 7.2 KLF17 SIN3A RFX5 GLIS2 SCRT2 RCOR1 FOS EGR2 CEBPB ZNF217 VPS53 FAM57A C17orf97 RFLNB DOC2B TIMM22 GEMIN4 LOC105376795 GC17M000676 GC17P000714
GH17F000265 1 FANTOM5 Ensembl ENCODE 11.7 -85.3 -85309 2.4 ZNF623 EGR2 DOC2B VPS53 GC17P000267 PIR56598
GH17F000377 0.7 Ensembl 11.5 -195.9 -195865 0.6 RFX1 ETV1 ZNF223 CEBPB REST THRB ZNF48 ZNF791 ATF3 SMARCA4 DOC2B RFLNB GC17M000276 ENSG00000262558
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DOC2B on UCSC Golden Path with GeneCards custom track

Promoters for DOC2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001804150 736 1801 RING1 CTCF SUZ12 ZIC2 POLR2A SCRT2 TCF7L2 EZH2 SP3 MAZ

Genomic Location for DOC2B Gene

Chromosome:
17
Start:
142,789 bp from pter
End:
181,636 bp from pter
Size:
38,848 bases
Orientation:
Minus strand

Genomic View for DOC2B Gene

Genes around DOC2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOC2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOC2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOC2B Gene

Proteins for DOC2B Gene

  • Protein details for DOC2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14184-DOC2B_HUMAN
    Recommended name:
    Double C2-like domain-containing protein beta
    Protein Accession:
    Q14184

    Protein attributes for DOC2B Gene

    Size:
    412 amino acids
    Molecular mass:
    45949 Da
    Quaternary structure:
    • Interacts with the SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) complex composed of SNAP25, STX1A and VAMP2; the interaction is calcium-dependent and competitive with SYT1. Interacts with STX4; the interaction is calcium-dependent, increased by insulin and glucose, and mediates vesicle fusion with plasma membrane in pancreatic cells and adipocytes. Interacts with STXBP3; the interaction is direct, occurs at the cell membrane and regulates glucose-stimulated insulin secretion. May interact with UNC13A; the interaction mediates targeting to the plasma membrane (By similarity). Interacts with cytoplasmic dynein light chain DYNLT1.

neXtProt entry for DOC2B Gene

Post-translational modifications for DOC2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DOC2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DOC2B Gene

Domains & Families for DOC2B Gene

Gene Families for DOC2B Gene

Protein Domains for DOC2B Gene

Suggested Antigen Peptide Sequences for DOC2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14184

UniProtKB/Swiss-Prot:

DOC2B_HUMAN :
  • C2 domain 1 is involved in binding calcium and phospholipids. C2 domain 2 may also play a role in the calcium-dependent targeting to membranes (By similarity).
Domain:
  • C2 domain 1 is involved in binding calcium and phospholipids. C2 domain 2 may also play a role in the calcium-dependent targeting to membranes (By similarity).
  • Contains 2 C2 domains.
genes like me logo Genes that share domains with DOC2B: view

Function for DOC2B Gene

Molecular function for DOC2B Gene

UniProtKB/Swiss-Prot Function:
Calcium sensor which positively regulates SNARE-dependent fusion of vesicles with membranes. Binds phospholipids in a calcium-dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium-triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma membrane in adipocytes (By similarity).

Gene Ontology (GO) - Molecular Function for DOC2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0005544 calcium-dependent phospholipid binding IEA,ISS --
GO:0019905 syntaxin binding IEA,IBA --
GO:0030276 clathrin binding IBA --
genes like me logo Genes that share ontologies with DOC2B: view

Phenotypes for DOC2B Gene

MGI mutant phenotypes for DOC2B:
inferred from 1 alleles
GenomeRNAi human phenotypes for DOC2B:
genes like me logo Genes that share phenotypes with DOC2B: view

Animal Models for DOC2B Gene

MGI Knock Outs for DOC2B:

Animal Model Products

miRNA for DOC2B Gene

miRTarBase miRNAs that target DOC2B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DOC2B Gene

Localization for DOC2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOC2B Gene

Cytoplasm. Cytoplasmic granule. Cell membrane; Peripheral membrane protein. Note=Translocates to the plasma membrane in a calcium-dependent manner. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DOC2B gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for DOC2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005886 plasma membrane IEA,ISS --
GO:0016020 membrane IEA --
GO:0031201 colocalizes_with SNARE complex ISS --
GO:0098793 presynapse IEA --
genes like me logo Genes that share ontologies with DOC2B: view

Pathways & Interactions for DOC2B Gene

SuperPathways for DOC2B Gene

No Data Available

Interacting Proteins for DOC2B Gene

Gene Ontology (GO) - Biological Process for DOC2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006906 vesicle fusion IBA --
GO:0008104 protein localization IEA,ISS --
GO:0017158 regulation of calcium ion-dependent exocytosis IBA --
GO:0031340 positive regulation of vesicle fusion IEA,ISS --
GO:0032024 positive regulation of insulin secretion IEA,ISS --
genes like me logo Genes that share ontologies with DOC2B: view

No data available for Pathways by source and SIGNOR curated interactions for DOC2B Gene

Drugs & Compounds for DOC2B Gene

(1) Drugs for DOC2B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with DOC2B: view

Transcripts for DOC2B Gene

mRNA/cDNA for DOC2B Gene

(3) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DOC2B Gene

Double C2-like domains, beta:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOC2B Gene

No ASD Table

Relevant External Links for DOC2B Gene

GeneLoc Exon Structure for
DOC2B
ECgene alternative splicing isoforms for
DOC2B

Expression for DOC2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DOC2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DOC2B Gene

This gene is overexpressed in Brain - Cerebellum (x5.0) and Brain - Cerebellar Hemisphere (x4.9).

Protein differential expression in normal tissues from HIPED for DOC2B Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DOC2B Gene



Protein tissue co-expression partners for DOC2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DOC2B Gene:

DOC2B

SOURCE GeneReport for Unigene cluster for DOC2B Gene:

Hs.551705

mRNA Expression by UniProt/SwissProt for DOC2B Gene:

Q14184-DOC2B_HUMAN
Tissue specificity: Widely expressed with highest levels in brain and kidney. Expressed in pancreatic islet cells (at protein level).
genes like me logo Genes that share expression patterns with DOC2B: view

Primer Products

Orthologs for DOC2B Gene

This gene was present in the common ancestor of animals.

Orthologs for DOC2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOC2B 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DOC2B 34 35
  • 93.27 (n)
mouse
(Mus musculus)
Mammalia Doc2b 34 16 35
  • 90.05 (n)
rat
(Rattus norvegicus)
Mammalia Doc2b 34
  • 89.64 (n)
dog
(Canis familiaris)
Mammalia DOC2B 34 35
  • 89.16 (n)
oppossum
(Monodelphis domestica)
Mammalia DOC2B 35
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOC2B 35
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves DOC2B 34 35
  • 83.5 (n)
lizard
(Anolis carolinensis)
Reptilia DOC2B 35
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia doc2b 34
  • 73.01 (n)
zebrafish
(Danio rerio)
Actinopterygii doc2b 34
  • 76.42 (n)
DOC2B 35
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rabphilin-3A 36
  • 39 (a)
Rph 35
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rbf-1 35
  • 10 (a)
OneToMany
Species where no ortholog for DOC2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DOC2B Gene

ENSEMBL:
Gene Tree for DOC2B (if available)
TreeFam:
Gene Tree for DOC2B (if available)

Paralogs for DOC2B Gene

Paralogs for DOC2B Gene

(7) SIMAP similar genes for DOC2B Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for DOC2B Gene

genes like me logo Genes that share paralogs with DOC2B: view

Variants for DOC2B Gene

Sequence variations from dbSNP and Humsavar for DOC2B Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10664153 -- 176,397(+) CGGGG(-/AG)GGTGC intron-variant
rs1106175 -- 157,097(+) TTAGC(A/G)CTAAG intron-variant
rs1106176 -- 157,143(+) CGCTC(A/G)GCTTC intron-variant
rs111256221 -- 168,217(+) ACGAG(A/G)TCTGA intron-variant
rs111267220 -- 160,815(+) CATAA(C/T)GTTGA intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DOC2B Gene

Variant ID Type Subtype PubMed ID
dgv3068n100 CNV gain 25217958
dgv3069n100 CNV gain 25217958
dgv3070n100 CNV gain 25217958
dgv3071n100 CNV gain 25217958
dgv5346n54 CNV loss 21841781
dgv5347n54 CNV gain 21841781
dgv5348n54 CNV gain 21841781
dgv5349n54 CNV gain+loss 21841781
dgv5350n54 CNV loss 21841781
dgv5351n54 CNV gain 21841781
dgv5352n54 CNV loss 21841781
dgv5353n54 CNV loss 21841781
dgv5354n54 CNV gain 21841781
dgv5355n54 CNV loss 21841781
dgv5356n54 CNV loss 21841781
dgv5357n54 CNV loss 21841781
esv1591929 CNV deletion 17803354
esv21587 CNV loss 19812545
esv2554624 CNV deletion 19546169
esv2715203 CNV deletion 23290073
esv2715204 CNV deletion 23290073
esv2715205 CNV deletion 23290073
esv27164 CNV gain 19812545
esv3179346 CNV deletion 24192839
esv3639614 CNV gain 21293372
esv3639615 CNV gain 21293372
nsv1056138 CNV loss 25217958
nsv1058245 CNV gain+loss 25217958
nsv1070790 CNV deletion 25765185
nsv1118742 CNV deletion 24896259
nsv469538 CNV loss 16826518
nsv573862 CNV gain 21841781
nsv573863 CNV loss 21841781
nsv573866 CNV gain 21841781
nsv573871 CNV gain+loss 21841781
nsv573876 CNV gain 21841781
nsv573889 CNV loss 21841781
nsv573904 CNV loss 21841781
nsv573909 CNV gain 21841781
nsv573911 CNV gain+loss 21841781
nsv573916 CNV gain 21841781
nsv827848 CNV gain 20364138
nsv952086 CNV deletion 24416366

Variation tolerance for DOC2B Gene

Gene Damage Index Score: 1.55; 30.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DOC2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOC2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOC2B Gene

Disorders for DOC2B Gene

Relevant External Links for DOC2B

Genetic Association Database (GAD)
DOC2B
Human Genome Epidemiology (HuGE) Navigator
DOC2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DOC2B

No disorders were found for DOC2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DOC2B Gene

Publications for DOC2B Gene

  1. Molecular cloning of an isoform of Doc2 having two C2-like domains. (PMID: 8554557) Sakaguchi G. … Takai Y. (Biochem. Biophys. Res. Commun. 1995) 3 4 22 64
  2. Genome-wide association study implicates PARD3B-based AIDS restriction. (PMID: 21502085) Troyer J.L. … O'Brien S.J. (J. Infect. Dis. 2011) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Interaction of Doc2 with tctex-1, a light chain of cytoplasmic dynein. Implication in dynein-dependent vesicle transport. (PMID: 9804756) Nagano F. … Takai Y. (J. Biol. Chem. 1998) 3 4 64
  5. Doc2, a novel synaptic vesicle protein with two repeated C2-like domains. (PMID: 7826360) Orita S. … Takai Y. (Biochem. Biophys. Res. Commun. 1995) 2 3 64

Products for DOC2B Gene

Sources for DOC2B Gene

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