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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DOC2A Gene

protein-coding   GIFtS: 54
GCID: GC16M030016

double C2-like domains, alpha
 Explore 2 diseases affiliated with
DOC2A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DOC2A    

Aliases
for DOC2A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Double C2-Like Domains, Alpha1 2
Doc22 3
Doc2-Alpha1
Double C2-Like Domain-Containing Protein Alpha2
Doc2-Alpha1

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

Export aliases for DOC2A gene to outside databases

Previous GC identifers: GC16P029137 GC16M030339 GC16M030015 GC16M030054 GC16M029924 GC16M027677


Summaries
for DOC2A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DOC2A:
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. (provided by RefSeq, Jul 2008)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences 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 plasmid: DOC2A promoter sequence
   Search SABiosciences Chromatin IP Primers for DOC2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for DOC2A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Lysosome (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane;
Peripheral membrane protein (Probable). Cell junction, synapse, synaptosome. Note=Colocalizes to synaptic vesicles
Secondary accessions: Q6P4G4 Q7Z5G0 Q8IVX0

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14183

    • DOC2A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003577.2  
    ENSEMBL proteins: 
     ENSP00000340017   ENSP00000456789   ENSP00000455196   ENSP00000455624   ENSP00000454857  
     ENSP00000458670   ENSP00000457184   ENSP00000454827   ENSP00000456704   ENSP00000457454  
     ENSP00000460622  

    Human Recombinant Protein Products: 
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    OriGene Custom Protein Services for DOC2A 
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    Novus Biologicals DOC2A Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IEA--
    GO:0019717synaptosome ----
    GO:0030054cell junction IEA--
    GO:0030672synaptic vesicle membrane IEA--
    GO:0043005neuron projection IEA--


    DOC2A for ontologies           About GeneDecksing



    DOC2A Antibody Products: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for DOC2A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DOC2A for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR014638 Doc2
     IPR001565 Synaptotagmin
     IPR018029 C2_membr_targeting
     IPR020477 C2_dom

    Graphical View of Domain Structure for InterPro Entry Q14183

    ProtoNet protein and cluster: Q14183

    2 Blocks protein families:
    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


    Function
    for DOC2A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOC2A
    8/13 QIAGEN miScript miRNA 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 plasmid: DOC2A 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOC2A (see all 7)
    OriGene shRNA RFP: DOC2A
    OriGene siRNA: DOC2A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOC2A

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DOC2A

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOC2A (see all 3)
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    Cell Line
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    Search LifeMap BioReagents cell lines for DOC2A

    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI18354201
    GO:0005544calcium-dependent phospholipid binding IEA--


    DOC2A for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Doc2atm1Ytk for DOC2A
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Doc2a):
     behavior/neurological  nervous system 

    DOC2A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DOC2A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DOC2A

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

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

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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


    DOC2A for ontologies           About GeneDecksing



    Drugs & Compounds
    for DOC2A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DOC2A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about DOC2A 

    Transcripts
    for DOC2A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DOC2A gene: 
    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOC2A
    8/13 QIAGEN miScript miRNA 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 plasmid: DOC2A 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOC2A (see all 7)
    OriGene shRNA RFP: DOC2A
    OriGene siRNA: DOC2A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOC2A
    Clone
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    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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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOC2A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOC2A

    Additional cDNA 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 

    24/84 AceView cDNA sequences (see all 84):

    BP349072 AI879601 AI083702 CR592793 CR612455 AL540139 CR597115 NM_003586 
    AA312045 AI208094 BX333543 CR599030 BC055284 BX460259 AI816309 AX746639 
    AI341674 BI754298 AA401405 BU630020 AW955163 BU729669 CA773407 BM702008 

    GeneLoc Exon Structure

    5/7 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

    Expression
    for DOC2A gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DOC2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAGCTGGGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DOC2A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal VesicleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Epiblast-like cells (Reconstitution of mo...)

    See DOC2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DOC2A

    SOURCE GeneReport for Unigene cluster: Hs.355281

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

        SABiosciences Custom PCR Arrays for DOC2A
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    In Situ
    Assay Products:     
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    Orthologs
    for DOC2A gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for DOC2A gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia DOC2A6
    		 --
    		 70(a)
    		 1 ↔ 1
    		 GL343606.1(290103-311669)
    African clawed frog
    (Xenopus laevis)    		 Amphibia CF547720.12   -- 81.85(n)    CF547720.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5588151 double C2-like domain-containing protein alpha-like 65.04(n)
    67.87(a)    		   558815  XM_003198077.1  XP_003198125.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta rabphilin-3A3 synaptic vesicle endocytosis protein
    transporter    		 37(a)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea snt-66
    rbf-16
    		 Rabphilin-1
    		 23(a)
    11(a)
    		 possible ortholog
    1 ↔ many
    		 II(745469-750171)
    III(6675748-6703943)


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

    Paralogs
    for DOC2A gene

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

    DOC2A for paralogs           About GeneDecksing



    Genomic Variants
    for DOC2A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/141 NCBI SNPs in DOC2A are shown (see all 141)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2012302481,2
    		--30016766(+) TGACCA/GTGACA 2 -- ds5001 ut310--------
    rs1500206411,2
    		C,--30016784(+) ATGCCC/TACCAC 2 -- ut31 ds50010--------
    rs1999267781,2
    		--30016786(+) GCCCAC/GCACGG 2 -- ds5001 ut310--------
    rs2021762311,2
    		--30016789(+) CACCAC/TGGCCC 2 -- ds5001 ut310--------
    rs740150031,2
    		C,--30016799(+) CCGCCC/TGGCGC 2 -- ut31 ds50011Minor allele frequency- T:0.50WA 2
    rs1491459251,2
    		C,--30016803(+) CCGGCA/GCCCTC 2 -- ut31 ds50010--------
    rs1123888961,2
    		C--30016810(+) CCTCCC/G/TCGTGC 3 -- ut31 ds50011CSA 1
    rs1432496611,2
    		--30016820(+) CCAGCA/CCACAC 2 -- ds5001 ut310--------
    rs1836540951,2
    		--30016840(+) TTCCTC/TGGAGG 2 -- ut310--------
    rs128511,2
    		C,F,A,H,--30016977(-) TTAAAT/CAACTG 2 -- ut3118Minor allele frequency- C:0.10MN NS EA NA WA 2244

    HapMap Linkage Disequilibrium report for DOC2A (30016830 - 30034591 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DOC2A
         1 CNV: 35383
    Human Gene Mutation Database (HGMD): DOC2A

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    Disorders / Diseases
    for DOC2A gene

    (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.)
    About This Section
    DOC2A for disorders           About GeneDecksing

    OMIM gene information: 604567    OMIM disorders: --

    2 diseases for DOC2A:    About MalaCards
    schizophrenia    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: DOC2A (4 documents)

    Export disorders for DOC2A gene to outside databases

    Publications
    for DOC2A gene

    (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)
    About This Section

    PubMed articles for DOC2A gene, integrated from 9 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. (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. (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. (2008)
    4. Molecular cloning of an isoform of Doc2 having two C2-like domains. (PubMed id 8554557)1, 2, 9 Sakaguchi G.... Takai Y. (1995)
    5. 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. (2004)
    6. 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. (1998)
    7. Physical and functional interactions of Doc2 and Munc13 in Ca2+-dependent exocytotic machinery. (PubMed id 9195900)1, 9 Orita S....Takai Y. (1997)
    8. Doc2 is a Ca2+ sensor required for asynchronous neuro transmitter release. (PubMed id 22036572)1 Yao J....Chapman E.R. (2011)
    9. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1 Shimada M....Tokunaga K. (2010)
    10. Strong synaptic transmission impact by copy number va riations in schizophrenia. (PubMed id 20489179)1 Glessner J.T....Hakonarson H. (2010)

    External Searches for DOC2A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing DOC2A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8448 HGNC: 2985 AceView: DOC2A Ensembl:ENSG00000149927 euGenes: HUgn8448
    ECgene: DOC2A H-InvDB: DOC2A

    Other Databases showing DOC2A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DOC2A gene

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

    Intellectual Property
    for DOC2A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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