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Aliases for DOC2A Gene

Aliases for DOC2A Gene

  • Double C2 Domain Alpha 2 3 5
  • Double C2-Like Domains, Alpha 2 3
  • Doc2-Alpha 3 4
  • DOC2 3 4
  • Double C2-Like Domain-Containing Protein Alpha 3

External Ids for DOC2A Gene

Previous GeneCards Identifiers for DOC2A Gene

  • GC16P029137
  • GC16M030339
  • GC16M030015
  • GC16M030054
  • GC16M029924
  • GC16M027677

Summaries for DOC2A Gene

Entrez Gene Summary for DOC2A 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. 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]

GeneCards Summary for DOC2A Gene

DOC2A (Double C2 Domain Alpha) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and syntaxin binding. An important paralog of this gene is DOC2B.

UniProtKB/Swiss-Prot for DOC2A Gene

  • Calcium sensor which most probably regulates fusion of vesicles with membranes. Binds calcium and phospholipids. May be involved in calcium dependent neurotransmitter release through the interaction with UNC13A. May be involved in calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells.

Gene Wiki entry for DOC2A Gene

Additional gene information for DOC2A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOC2A Gene

Genomics for DOC2A Gene

GeneHancer (GH) Regulatory Elements for DOC2A Gene

Promoters and enhancers for DOC2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I030020 Promoter/Enhancer 1.5 Ensembl ENCODE 550.8 +2.0 1969 1 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B DOC2A GC16P030021 SETD1A SRCAP INO80E ZNF764 BCL7C SMG1P2 ZNF689 SMG1P5
GH16I030008 Promoter/Enhancer 1.4 EPDnew Ensembl 550.4 +12.7 12678 3.9 SIN3A ZNF2 ZBTB7B GLIS2 KLF7 SP3 YY2 TSHZ1 ZNF610 ZSCAN16 DOC2A SETD1A INO80E ZNF785 YPEL3 SRCAP BCL7C MIR762HG NPIPB12 SMG1P2
GH16I030023 Promoter 0.6 EPDnew 550.8 0.0 -35 0.1 CREB1 C16orf92 DOC2A GC16P030021
GH16I029819 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.7 +200.4 200366 7.5 HDGF PKNOX1 CLOCK SIN3A ZNF48 YY1 GLIS2 ZNF143 FOS RUNX3 MVP GC16M029840 ENSG00000238045 INO80E SRCAP ENSG00000260853 NPIPB12 GDPD3 ATXN2L NFATC2IP
GH16I029803 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.6 +214.8 214837 10.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PRRT2 PIR52254 PIR52049 PIR43581 MAZ PIR38319 GC16P029941 GC16P029809 GC16P029807 ENSG00000280607
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DOC2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DOC2A gene promoter:

Genomic Locations for DOC2A Gene

Genomic Locations for DOC2A Gene
chr16:30,005,509-30,023,280
(GRCh38/hg38)
Size:
17,772 bases
Orientation:
Minus strand
chr16:30,016,830-30,034,591
(GRCh37/hg19)

Genomic View for DOC2A Gene

Genes around DOC2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOC2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOC2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOC2A Gene

Proteins for DOC2A Gene

  • Protein details for DOC2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14183-DOC2A_HUMAN
    Recommended name:
    Double C2-like domain-containing protein alpha
    Protein Accession:
    Q14183
    Secondary Accessions:
    • B4DEJ2
    • H3BNH6
    • Q6P4G4
    • Q7Z5G0
    • Q8IVX0

    Protein attributes for DOC2A Gene

    Size:
    400 amino acids
    Molecular mass:
    43959 Da
    Quaternary structure:
    • Interacts (via N-terminus) with UNC13A. Interacts with cytoplasmic dynein light chain DYNLT1. Interacts with UNC13D.

    Three dimensional structures from OCA and Proteopedia for DOC2A Gene

    Alternative splice isoforms for DOC2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DOC2A Gene

Post-translational modifications for DOC2A Gene

No Post-translational modifications

No data available for DME Specific Peptides for DOC2A Gene

Domains & Families for DOC2A Gene

Gene Families for DOC2A Gene

Protein Domains for DOC2A Gene

Suggested Antigen Peptide Sequences for DOC2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14183

UniProtKB/Swiss-Prot:

DOC2A_HUMAN :
  • C2 domain 1 is involved in binding calcium and phospholipids.
Domain:
  • C2 domain 1 is involved in binding calcium and phospholipids.
genes like me logo Genes that share domains with DOC2A: view

Function for DOC2A Gene

Molecular function for DOC2A Gene

UniProtKB/Swiss-Prot Function:
Calcium sensor which most probably regulates fusion of vesicles with membranes. Binds calcium and phospholipids. May be involved in calcium dependent neurotransmitter release through the interaction with UNC13A. May be involved in calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells.

Phenotypes From GWAS Catalog for DOC2A Gene

Gene Ontology (GO) - Molecular Function for DOC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0005515 protein binding IPI 18354201
GO:0005544 calcium-dependent phospholipid binding IBA --
GO:0019905 syntaxin binding IBA --
GO:0030276 clathrin binding IBA --
genes like me logo Genes that share ontologies with DOC2A: view
genes like me logo Genes that share phenotypes with DOC2A: view

Animal Models for DOC2A Gene

MGI Knock Outs for DOC2A:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DOC2A Gene

Localization for DOC2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOC2A Gene

Lysosome. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein. Cell junction, synapse, synaptosome. Note=Colocalizes to synaptic vesicles.

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 DOC2A gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 3
lysosome 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (1)
  • Nucleoli (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DOC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005764 lysosome IEA --
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DOC2A: view

Pathways & Interactions for DOC2A Gene

SuperPathways for DOC2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for DOC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA --
GO:0006906 vesicle fusion IBA --
GO:0007268 chemical synaptic transmission TAS 7826360
GO:0007399 nervous system development TAS 7826360
GO:0016079 synaptic vesicle exocytosis IEA --
genes like me logo Genes that share ontologies with DOC2A: view

No data available for Pathways by source and SIGNOR curated interactions for DOC2A Gene

Drugs & Compounds for DOC2A Gene

(1) Drugs for DOC2A Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(1) Additional Compounds for DOC2A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DOC2A: view

Transcripts for DOC2A Gene

Unigene Clusters for DOC2A Gene

Double C2-like domains, alpha:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOC2A Gene

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:

Relevant External Links for DOC2A Gene

GeneLoc Exon Structure for
DOC2A
ECgene alternative splicing isoforms for
DOC2A

Expression for DOC2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOC2A Gene

mRNA differential expression in normal tissues according to GTEx for DOC2A Gene

This gene is overexpressed in Brain - Cortex (x7.8), Brain - Frontal Cortex (BA9) (x6.5), Brain - Anterior cingulate cortex (BA24) (x5.4), Brain - Cerebellum (x4.5), and Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for DOC2A Gene

This gene is overexpressed in Frontal cortex (61.1) and Fetal Brain (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DOC2A Gene



Protein tissue co-expression partners for DOC2A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DOC2A Gene:

DOC2A

SOURCE GeneReport for Unigene cluster for DOC2A Gene:

Hs.355281

mRNA Expression by UniProt/SwissProt for DOC2A Gene:

Q14183-DOC2A_HUMAN
Tissue specificity: Predominantly expressed in brain. Also expressed in testis.

Evidence on tissue expression from TISSUES for DOC2A Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with DOC2A: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DOC2A Gene

Orthologs for DOC2A Gene

This gene was present in the common ancestor of animals.

Orthologs for DOC2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOC2A 33 34
  • 98.08 (n)
cow
(Bos Taurus)
Mammalia DOC2A 33 34
  • 91.25 (n)
dog
(Canis familiaris)
Mammalia DOC2A 33 34
  • 90 (n)
mouse
(Mus musculus)
Mammalia Doc2a 33 16 34
  • 87.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DOC2A 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Doc2a 33
  • 86.83 (n)
oppossum
(Monodelphis domestica)
Mammalia DOC2A 34
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOC2A 34
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-93n13.3 33
  • 64.27 (n)
DOC2A 34
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rabphilin-3A 35
  • 37 (a)
Rph 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rbf-1 34
  • 13 (a)
OneToMany
Species where no ortholog for DOC2A 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)
  • chicken (Gallus gallus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DOC2A Gene

ENSEMBL:
Gene Tree for DOC2A (if available)
TreeFam:
Gene Tree for DOC2A (if available)

Paralogs for DOC2A Gene

Paralogs for DOC2A Gene

genes like me logo Genes that share paralogs with DOC2A: view

Variants for DOC2A Gene

Sequence variations from dbSNP and Humsavar for DOC2A Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000037841 -- 30,010,428(-) G/T 5_prime_UTR_variant, intron_variant
rs1000108327 -- 30,019,114(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000241646 -- 30,021,255(-) G/T 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000318863 -- 30,024,907(-) C/T upstream_transcript_variant
rs1000516839 -- 30,007,096(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DOC2A Gene

Variant ID Type Subtype PubMed ID
esv3638378 CNV loss 21293372

Variation tolerance for DOC2A Gene

Residual Variation Intolerance Score: 68.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.06; 80.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DOC2A Gene

Human Gene Mutation Database (HGMD)
DOC2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOC2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOC2A Gene

Disorders for DOC2A Gene

Additional Disease Information for DOC2A

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

No disorders were found for DOC2A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DOC2A Gene

Publications for DOC2A Gene

  1. Doc2: a novel brain protein having two repeated C2-like domains. (PMID: 7826360) Orita S … Takai Y (Biochemical and biophysical research communications 1995) 2 3 4 22 58
  2. Doc2 alpha and Munc13-4 regulate Ca(2+) -dependent secretory lysosome exocytosis in mast cells. (PMID: 18354201) Higashio H … Sasaki T (Journal of immunology (Baltimore, Md. : 1950) 2008) 3 4 22 58
  3. Role of the Doc2 alpha-Munc13-1 interaction in the neurotransmitter release process. (PMID: 9736751) Mochida S … Takai Y (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 58
  4. Molecular cloning of an isoform of Doc2 having two C2-like domains. (PMID: 8554557) Sakaguchi G … Takai Y (Biochemical and biophysical research communications 1995) 3 4 22 58
  5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58

Products for DOC2A Gene

Sources for DOC2A Gene

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