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DOC2A Gene

protein-coding   GIFtS: 58
GCID: GC16M030016

Double C2-Like Domains, Alpha

  Search for DOC2A
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Double C2-Like Domains, Alpha1 2
Doc22 3
doc2-alpha2
Double C2-Like Domain-Containing Protein Alpha2
Doc2-alpha3

External Ids:    HGNC: 29851   Entrez Gene: 84482   Ensembl: ENSG000001499277   OMIM: 6045675   UniProtKB: Q141833   
ORGUL members:         

Export aliases for DOC2A gene to outside databases

Previous GC identifers: GC16P029137 GC16M030339 GC16M030015 GC16M030054 GC16M029924 GC16M027677


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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-like domains, alpha) is a protein-coding gene. GO annotations related to this gene include calcium-dependent phospholipid binding and transporter activity. An important paralog of this gene is SYTL4.

UniProtKB/Swiss-Prot: DOC2A_HUMAN, Q14183
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

Gene Wiki entry for DOC2A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DOC2A gene promoter:
         GR   Egr-3   GR-beta   C/EBPalpha   Evi-1   CHOP-10   AREB6   RORalpha1   ARP-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDOC2A promoter sequence
   Search Chromatin IP Primers for DOC2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DOC2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

DOC2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOC2A gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M030016:  view genomic region     (about GC identifiers)

Start:
30,016,830 bp from pter      End:
30,034,591 bp from pter
Size:
17,762 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DOC2A_HUMAN, Q14183 (See protein sequence)
Recommended Name: Double C2-like domain-containing protein alpha  
Size: 400 amino acids; 43959 Da
Subunit: Interacts (via N-terminus) with UNC13A. Interacts with cytoplasmic dynein light chain DYNLT1. Interacts
with UNC13D
1 PDB 3D structure from and Proteopedia for DOC2A:
4MJJ (3D)    
Secondary accessions: Q6P4G4 Q7Z5G0 Q8IVX0

Explore the universe of human proteins at neXtProt for DOC2A: NX_Q14183

Explore proteomics data for DOC2A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DOC2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001268991.1  NP_001268992.1  NP_001268997.1  NP_003577.2  

    ENSEMBL proteins: 
     ENSP00000340017   ENSP00000456789   ENSP00000455196   ENSP00000455624   ENSP00000454857  
     ENSP00000458670   ENSP00000457184   ENSP00000454827   ENSP00000456704   ENSP00000457454  
     ENSP00000460622  

    DOC2A Human Recombinant Protein Products:

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    OriGene Custom MassSpec
    OriGene Custom Protein Services for DOC2A
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    Novus Biologicals DOC2A Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for DOC2A 

    DOC2A Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals DOC2A Antibodies
    Abcam antibodies for DOC2A
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for DOC2A
    LSBio Antibodies in human, mouse, rat for DOC2A

    DOC2A Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for DOC2A 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR014638 Doc2
     IPR001565 Synaptotagmin
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry Q14183

    ProtoNet protein and cluster: Q14183

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB001565 Synaptotagmin signature


    UniProtKB/Swiss-Prot: DOC2A_HUMAN, Q14183
    Domain: C2 domain 1 is involved in binding calcium and phospholipids (By similarity)
    Similarity: Contains 2 C2 domains


    Find genes that share domains with DOC2A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DOC2A_HUMAN, Q14183
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0005515protein binding IPI18354201
    GO:0005544calcium-dependent phospholipid binding IEA--
         
    Find genes that share ontologies with DOC2A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DOC2A:
     Decreased POU5F1-GFP protein e 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Doc2a):
     behavior/neurological  nervous system 

    Find genes that share phenotypes with DOC2A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Doc2atm1Ytk for DOC2A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DOC2A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DOC2A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DOC2A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DOC2A

    miRNA
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    Block miRNA regulation of human, mouse, rat DOC2A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DOC2A (see all 13):
    hsa-miR-30c hsa-miR-448 hsa-miR-4306 hsa-miR-486-3p hsa-miR-30d hsa-miR-181a-2* hsa-miR-888* hsa-miR-153
    SwitchGear 3'UTR luciferase reporter plasmidDOC2A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DOC2A
    Predesigned siRNA for gene silencing in human, mouse, rat DOC2A

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for DOC2A (see all 5)
    OriGene ORF clones in mouse, rat for DOC2A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DOC2A (NM_003586)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DOC2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOC2A

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOC2A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DOC2A_HUMAN, Q14183: Lysosome (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane;
    Peripheral membrane protein (Probable). Cell junction, synapse, synaptosome. Note=Colocalizes to synaptic
    vesicles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    lysosome2
    nucleus2
    vacuole2
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IEA--
    GO:0030054cell junction IEA--
    GO:0030672synaptic vesicle membrane IEA--
    GO:0043005neuron projection IEA--

    Find genes that share ontologies with DOC2A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DOC2A
    Interactions:

        Search GeneGlobe Interaction Network for DOC2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for DOC2A (Q141833 ENSP000003400174) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STXBP1P617643, ENSP000003623994I2D: score=1 STRING: ENSP00000362399
    UNC13BO147953, ENSP000003677564I2D: score=2 STRING: ENSP00000367756
    DYNLT1P631723, ENSP000003560564I2D: score=1 STRING: ENSP00000356056
    STXBP2ENSP000002212834STRING: ENSP00000221283
    RAB5AENSP000002730474STRING: ENSP00000273047
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS7826360
    GO:0007399nervous system development TAS7826360
    GO:0016079synaptic vesicle exocytosis IEA--
    GO:0017158regulation of calcium ion-dependent exocytosis IMP18354201

    Find genes that share ontologies with DOC2A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DOC2A

    1 HMDB Compound for DOC2A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for DOC2A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phospholipid 56.5 4 8554557 (1), 8631736 (1), 9195900 (1), 9073161 (1)
    calcium 29.2 4 20150444 (2), 7826360 (1), 16515538 (1)



    Find genes that share compounds with DOC2A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DOC2A gene (4 alternative transcripts): 
    NM_001282062.1  NM_001282063.1  NM_001282068.1  NM_003586.2  

    Unigene Cluster for DOC2A:

    Double C2-like domains, alpha
    Hs.355281  [show with all ESTs]
    Unigene Representative Sequence: AK090829
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000350119(uc002dvn.3 uc010vef.2 uc002dvo.3 uc002dvp.3 uc002dvq.3)
    ENST00000564233 ENST00000564357 ENST00000564944 ENST00000564979 ENST00000566310
    ENST00000561671 ENST00000565273 ENST00000567332 ENST00000563378 ENST00000563125
    ENST00000574405 ENST00000566456 ENST00000570194 ENST00000567824 ENST00000564075
    ENST00000572637
    miRNA
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    Block miRNA regulation of human, mouse, rat DOC2A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DOC2A (see all 13):
    hsa-miR-30c hsa-miR-448 hsa-miR-4306 hsa-miR-486-3p hsa-miR-30d hsa-miR-181a-2* hsa-miR-888* hsa-miR-153
    SwitchGear 3'UTR luciferase reporter plasmidDOC2A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DOC2A
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DOC2A (NM_003586)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOC2A
    Primer
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    OriGene qPCR primer pairs and template standards for DOC2A
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DOC2A
      QuantiTect SYBR Green Assays in human, mouse, rat DOC2A
      QuantiFast Probe-based Assays in human, mouse, rat DOC2A

    Additional mRNA sequence: 

    AK090829.1 AK293651.1 AK309158.1 BC041769.1 BC055284.1 BC063436.1 D31897.1 

    15 DOTS entries:

    DT.92445465  DT.97784199  DT.92070414  DT.310247  DT.95268341  DT.100687831  DT.95268339  DT.95268356 
    DT.95268337  DT.100694871  DT.100888185  DT.95268351  DT.97854823  DT.120696668  DT.91988194 

    Selected AceView cDNA sequences (see all 84):

    BX460259 AI879601 BX333543 BC055284 AL540139 NM_003586 BP349072 CR597115 
    CR592793 AI208094 CR612455 AI083702 AA312045 CR599030 BI754298 BP346793 
    AW445082 BC063436 AV660370 AL557102 AW955163 BX283432 AK090829 AI341674 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DOC2A (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12
    SP1:                                -                 -           -                                       
    SP2:                                -                 -           -                                       
    SP3:                                                  -           -                                       
    SP4:                                                                                                      
    SP5:                                -                                                                     


    ECgene alternative splicing isoforms for DOC2A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DOC2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGCTGGGC
    DOC2A Expression
    About this image


    DOC2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Thalamus
             Olfactory Bulb   
     
     Neurons
             Adult Dopaminergic Neurons Ventral Tegmental Area
     
     Epiblast (Early Embryonic Tissues)
             Epiblast-like cells
     
     Kidney (Urinary System)
             Renal Vesicle
    DOC2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DOC2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.355281

    UniProtKB/Swiss-Prot: DOC2A_HUMAN, Q14183
    Tissue specificity: Predominantly expressed in brain. Also expressed in testis

        Custom PCR Arrays for DOC2A
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    QuantiFast Probe-based Assays in human, mouse, rat DOC2A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOC2A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DOC2A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Doc2a1 , 5 double C2, alpha1, 5 87.21(n)1
    94.44(a)1
      7 (69.25 cM)5
    134461  NM_010069.11  NP_034199.11 
     1268474165 
    lizard
    (Anolis carolinensis)
    Reptilia DOC2A6
    double C2-like domains, alpha
    71(a)
    1 ↔ 1
    GL343606.1(252295-311669)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF547720.12   -- 81.85(n)    CF547720.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-93n13.31 si:dkey-93n13.3 64.27(n)
    66.58(a)
      558815  XM_003198077.2  XP_003198125.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rabphilin-3A3 synaptic vesicle endocytosis protein
    transporter
    37(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea rbf-16
    Protein RBF-1, isoform c
    13(a)
    1 → many
    III(6675801-6703996) WBGene00004316


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DOC2A gene
    SYTL42  SYTL52  DOC2B2  SYTL12  SYTL32  RPH3A2  SYTL22  
    15 SIMAP similar genes for DOC2A using alignment to 9 protein entries:     DOC2A_HUMAN (see all proteins):
    DOC2B    PIK3C2B    PRKCA    RPH3A    PRKCG    PRKCB
    SYT5    PCLO    SYT7    SYTL2    SYT15    SYT1
    SYT11    SYT4    CHR11SYT

    Find genes that share paralogs with DOC2A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DOC2A (see all 190)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1413235221,2
    C,F--30017620(+) AGCCTC/TGCCTC 2 K E mis11Minor allele frequency- T:0.00NA 3778
    rs2010635621,2
    --30017688(+) CCTCCC/TTGCCA 1 -- int10--------
    rs1419363661,2
    C--30017713(+) ACACCC/TGCAGC 1 -- int10--------
    rs2007329481,2
    C--30017748(+) CATTGG/AATTTG 2 /S /F mis11Minor allele frequency- A:0.00EU 1313
    rs2007963831,2
    --30017773(+) CCAGAC/TGGTGA 2 I V mis10--------
    rs1903873471,2
    C--30017797(+) GGTGGC/TCAGAG 2 T A mis10--------
    rs38148801,2
    C,F,A,H--30017895(-) GGGACA/GTGGAG 1 -- int123Minor allele frequency- G:0.33NS EA NA CSA WA 2560
    rs1996431951,2
    C--30017901(+) GTCCCG/ATCCCC 1 -- int11Minor allele frequency- A:0.00EU 1323
    rs1820184451,2
    C--30017903(+) CCCGTC/TCCCTC 1 -- int10--------
    rs1996091441,2
    C--30017927(+) TAAATA/TCTGGG 2 E V mis10--------

    HapMap Linkage Disequilibrium report for DOC2A (30016830 - 30034591 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DOC2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2668n71CNV Loss21882294
    nsv905717CNV Loss21882294

    Human Gene Mutation Database (HGMD): DOC2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DOC2A
    DNA2.0 Custom Variant and Variant Library Synthesis for DOC2A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604567    OMIM disorders: --


    Find genes that share disorders with DOC2A           About GenesLikeMe

    Genetic Association Database (GAD): DOC2A
    Human Genome Epidemiology (HuGE) Navigator: DOC2A (4 documents)

    Export disorders for DOC2A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DOC2A gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with DOC2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Doc2, a novel synaptic vesicle protein with two repeated C2-like domains. (PubMed id 7826360)1, 2, 3, 9 Orita S.... Takai Y. (Biochem. Biophys. Res. Commun. 1995)
    2. Role of the Doc2 alpha-Munc13-1 interaction in the neurotransmitter release process. (PubMed id 9736751)1, 2, 3 Mochida S.... Takai Y. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Doc2 alpha and Munc13-4 regulate Ca(2+) -dependent secretory lysosome exocytosis in mast cells. (PubMed id 18354201)1, 2, 9 Higashio H.... Sasaki T. (J. Immunol. 2008)
    4. Molecular cloning of an isoform of Doc2 having two C2-like domains. (PubMed id 8554557)1, 2, 9 Sakaguchi G.... Takai Y. (Biochem. Biophys. Res. Commun. 1995)
    5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    6. Strong synaptic transmission impact by copy number variations in schizophrenia. (PubMed id 20489179)1, 4 Glessner J.T....Hakonarson H. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    7. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351)1, 4 Guilmatre A....Campion D. (Arch. Gen. Psychiatry 2009)
    8. Association and mutation analyses of 16p11.2 autism candidate genes. (PubMed id 19242545)1, 4 Kumar R.A....Christian S.L. (PLoS ONE 2009)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Interaction of Doc2 with tctex-1, a light chain of cytoplasmic dynein. Implication in dynein-dependent vesicle transport. (PubMed id 9804756)1, 2 Nagano F.... Takai Y. (J. Biol. Chem. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8448 HGNC: 2985 AceView: DOC2A Ensembl:ENSG00000149927 euGenes: HUgn8448
    ECgene: DOC2A H-InvDB: DOC2A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DOC2A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DOC2A gene:
    Search GeneIP for patents involving DOC2A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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