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

CADPS2 Gene

protein-coding   GIFtS: 54
GCID: GC07M121958

Ca++-Dependent Secretion Activator 2

(Previous name: Ca++-dependent activator protein for secretion 2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ca++-Dependent Secretion Activator 21 2     Ca++-Dependent Activator Protein For Secretion 21
Calcium-Dependent Activator Protein For Secretion 22 3     Ca2+-Dependent Activator Protein For Secretion 22
CAPS-22 3     Calcium-Dependent Secretion Activator 22
KIAA15913 5     CAPS23

External Ids:    HGNC: 160181   Entrez Gene: 936642   Ensembl: ENSG000000818037   OMIM: 6099785   UniProtKB: Q86UW73   

Export aliases for CADPS2 gene to outside databases

Previous GC identifers: GC00U991034 GC07U900025 GC07M121500 GC07M121514 GC07M121553 GC07M121746 GC07M116321


(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 CADPS2 Gene:
This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are
calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and
neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Nov 2009)

GeneCards Summary for CADPS2 Gene: 
CADPS2 (Ca++-dependent secretion activator 2) is a protein-coding gene. Diseases associated with CADPS2 include exudative vitreoretinopathy, and autism spectrum disorder. GO annotations related to this gene include phospholipid binding and metal ion binding. An important paralog of this gene is CADPS.

UniProtKB/Swiss-Prot: CAPS2_HUMAN, Q86UW7
Function: Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and
neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles.
Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during
cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles
(DCVs) and other dense-core vesicles (By similarity)

Gene Wiki entry for CADPS2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CADPS2 gene promoter:
         Oct-B1   oct-B3   oct-B2   AML1a   AP-1   POU2F2   GATA-1   POU2F1   POU2F1a   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): CADPS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CADPS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CADPS2


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

Entrez Gene cytogenetic band: 7q31.3   Ensembl cytogenetic band:  7q31.32   HGNC cytogenetic band: 7q31.32

CADPS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CADPS2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M121958:  view genomic region     (about GC identifiers)

Start:
121,958,478 bp from pter      End:
122,526,813 bp from pter
Size:
568,336 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 121,353,164-121,915,693     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CAPS2_HUMAN, Q86UW7 (See protein sequence)
Recommended Name: Calcium-dependent secretion activator 2  
Size: 1296 amino acids; 147735 Da
Subunit: Homodimer (By similarity). Interacts with the dopamine receptor DRD2
Subcellular location: Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side (Potential).
Cell junction, synapse. Note=Membrane-associated to vesicles. Strongly enriched in synaptic fractions. Probably
localizes to different vesicles compared to CADPS. Enriched on vesicular structures in the parallel fiber
terminal of granule cells that are distinct from synaptic vesicles
Sequence caution: Sequence=AAH54339.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AK098170; Type=Miscellaneous discrepancy; Note=Chimera; Sequence=BAA91372.1;
Type=Erroneous initiation; Sequence=BAB15210.1; Type=Erroneous initiation;
Secondary accessions: A4D0X3 B7ZM56 Q658Q2 Q7Z5T7 Q8IZW9 Q8N7M4 Q9H6P4 Q9HCI1 Q9NWK8
Alternative splicing: 3 isoforms:  Q86UW7-1   Q86UW7-2   Q86UW7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CADPS2: NX_Q86UW7

Explore proteomics data for CADPS2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86UW7

  • CADPS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CADPS2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001009571.2  NP_001161412.1  NP_060424.9  

    ENSEMBL proteins: 
     ENSP00000419418   ENSP00000400401   ENSP00000398481   ENSP00000380833   ENSP00000333940  
     ENSP00000325581  

    Human Recombinant Protein Products for CADPS2: 
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    OriGene Protein Over-expression Lysate for CADPS2
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CADPS2 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016023cytoplasmic membrane-bounded vesicle ----
    GO:0030054cell junction IEA--
    GO:0030659cytoplasmic vesicle membrane IEA--
    GO:0031410cytoplasmic vesicle ----
    GO:0042734presynaptic membrane IEA--

    CADPS2 for ontologies           About GeneDecksing



    CADPS2 Antibody Products: 
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    Abcam antibodies for CADPS2
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    ThermoFisher Antibodies for CADPS2
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    Assay Products for CADPS2: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CADPS2 
    Cloud-Clone Corp. CLIAs for CADPS2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing

    5/6 InterPro protein domains (see all 6):
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR010439 Ca-dep_secretion_activator
     IPR014770 Munc13_1

    Graphical View of Domain Structure for InterPro Entry Q86UW7

    ProtoNet protein and cluster: Q86UW7

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: CAPS2_HUMAN, Q86UW7
    Domain: The PH domain is essential for regulated exocytosis and binds phospholipids (By similarity)
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 MHD1 (MUNC13 homology domain 1) domain
    Similarity: Contains 1 PH domain


    CADPS2 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAPS2_HUMAN, Q86UW7
    Function: Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and
    neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles.
    Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during
    cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles
    (DCVs) and other dense-core vesicles (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
    GO:0046872metal ion binding IEA--
         
    CADPS2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CADPS2:
     Increased G1 DNA content 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cadps2):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     mortality/aging  nervous system 

    CADPS2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CADPS2: Cadps2tm1Bros Cadps2tm1Tfr

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CADPS2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CADPS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CADPS2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CADPS2 

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate CADPS2 (see all 17):
    hsa-miR-217 hsa-miR-137 hsa-miR-539 hsa-miR-300 hsa-miR-509-5p hsa-miR-624 hsa-miR-629 hsa-miR-2276
    SwitchGear 3'UTR luciferase reporter plasmidCADPS2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of CADPS2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CADPS2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CADPS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/20 Interacting proteins for CADPS2 (Q86UW72, 3 ENSP000004004014) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2D2P628373, ENSP000003817174I2D: score=2 STRING: ENSP00000381717
    UBE2D3P610773, ENSP000003497224I2D: score=2 STRING: ENSP00000349722
    UBE2NP610883, ENSP000003161764I2D: score=2 STRING: ENSP00000316176
    UBE2UQ5VVX93, ENSP000003601164I2D: score=2 STRING: ENSP00000360116
    UBE2WQ96B023, ENSP000003974534I2D: score=2 STRING: ENSP00000397453
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0016082synaptic vesicle priming IEA--
    GO:0045921positive regulation of exocytosis IEA--

    CADPS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CADPS2 (CAPS2)

    2 HMDB Compounds for CADPS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Dopamine2-(3,4-Dihydroxyphenyl)ethylamine (see all 22)62-31-7--

    Search CenterWatch for drugs/clinical trials and news about CADPS2 / CAPS2

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CADPS2 gene (3 alternative transcripts): 
    NM_001009571.3  NM_001167940.1  NM_017954.10  

    Unigene Cluster for CADPS2:

    Ca++-dependent secretion activator 2
    Hs.649459  [show with all ESTs]
    Unigene Representative Sequence: NM_001167940
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462699 ENST00000412584 ENST00000449022 ENST00000397721 ENST00000476131
    ENST00000334010(uc022akp.1 uc022akq.1 uc022akr.1) ENST00000313070(uc003vkg.4 uc010lkq.3)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CADPS2
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate CADPS2 (see all 17):
    hsa-miR-217 hsa-miR-137 hsa-miR-539 hsa-miR-300 hsa-miR-509-5p hsa-miR-624 hsa-miR-629 hsa-miR-2276
    SwitchGear 3'UTR luciferase reporter plasmidCADPS2 3' UTR sequence
    Inhib. RNA
    Products:
         
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CADPS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CADPS2
    Sirion Biotech Customized lentivirus for stable overexpression of CADPS2 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CADPS2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CADPS2

    Additional mRNA sequence: 

    AB046811.1 AF401638.1 AK000768.1 AK025672.1 AK054853.1 AK126518.1 AL833058.1 AY264289.1 
    BC054339.1 BC136601.1 BC144278.1 BC144279.1 

    11 DOTS entries:

    DT.40216990  DT.101966322  DT.97779400  DT.100641500  DT.121105299  DT.100754075  DT.121105416  DT.121105295 
    DT.75130272  DT.91815697  DT.92420377 

    24/67 AceView cDNA sequences (see all 67):

    AI492906 AL833058 BE349198 BP375757 BF445566 BP378689 BC054339 AA708441 
    AB046811 AK126518 AI479217 CB134237 W52674 AI498316 BP377000 BF439127 
    AI588977 AW513864 BU171473 AW192329 NM_017954 BX279929 AW780256 AK054853 

    GeneLoc Exon Structure


    (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

    CADPS2 expression in normal human tissues (normalized intensities)      CADPS2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CADPS2 Expression
    About this image


    CADPS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Testis (Reproductive System)
     
     Adrenal Gland (Endocrine System)

    See CADPS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CADPS2

    SOURCE GeneReport for Unigene cluster: Hs.649459

    UniProtKB/Swiss-Prot: CAPS2_HUMAN, Q86UW7
    Tissue specificity: Widely expressed. Expressed in all adult and fetal tissues examined, with the strongest
    expression in kidney and pancreas. In brain, it is expressed at high levels in cerebellum, to a lesser degree in
    cerebral cortex, occipital pole, and frontal and temporal lobes. Only weakly expressed in medulla, spinal cord
    and putamen

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CADPS2

    (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 CADPS2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cadps21 , 5 Ca2+-dependent activator protein for secretion 21, 5 90.13(n)1
    96.3(a)1
      6 (10.57 cM)5
    3204051  NM_153163.41  NP_694803.31 
     232627735 
    chicken
    (Gallus gallus)
    Aves CADPS21 Ca++-dependent secretion activator 2 83.95(n)
    91.22(a)
      417756  XM_003640346.1  XP_003640394.1 
    lizard
    (Anolis carolinensis)
    Reptilia CADPS26
    Ca++-dependent secretion activator 2
    86(a)
    1 ↔ 1
    5(67927995-68305410)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.192272 Transcribed sequence with weak similarity to protein more 77.59(n)    BX775760.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cadps22 Ca2+-dependent activator protein for secretion 2 73.51(n)   373877  AY120892.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Caps6
    Calcium activated protein for secretion
    49(a)
    1 → many
    4(1234563-1275485)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-316
    Calcium-dependent secretion activator
    45(a)
    1 → many
    IV(12773862-12787513)


    ENSEMBL Gene Tree for CADPS2 (if available)
    TreeFam Gene Tree for CADPS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CADPS2 gene
    CADPS2  
    1 SIMAP similar gene for CADPS2 using alignment to 8 protein entries:     CAPS2_HUMAN (see all proteins):
    CADPS

    CADPS2 for paralogs           About GeneDecksing



    (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) 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

    10/10707 SNPs in CADPS2 are shown (see all 10707)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1397488371,2
    C--116323391(+) CAAAA-/AAAC  
            
    AAACA
    3 -- ut310--------
    rs77773511,2
    C,A--116326339(+) ACTAAC/AAGCAA 3 -- int15Minor allele frequency- A:0.36NA WA EA 362
    rs2014154731,2
    --116326339(+) ACTAA-/CAGCAA 3 -- int10--------
    rs77772261,2
    C,H--116326340(+) CTAACG/AGCAAG 3 -- int110Minor allele frequency- A:0.02NA WA CSA EA 369
    rs676605201,2
    C--116327270(+) ACTGT-/TATG  
            
    TATGT
    3 -- int10--------
    rs105944661,2
    C--116372559(+) TTGTTC/TCCCCC 3 -- int1 trp30--------
    rs1812581221,2
    --116480505(+) GGGAAA/GGGGGG 3 -- int10--------
    rs1871275851,2
    C--116480527(+) GGGAGA/GGGAGA 3 -- int10--------
    rs1496720071,2
    C--116480532(+) AGGAGA/GGGAGA 3 -- int10--------
    rs1995143131,2
    --116480575(+) GAGAA-/GAGAGA 3 -- int10--------

    HapMap Linkage Disequilibrium report for CADPS2 (121958478 - 122208478 bp, first 250kb of CADPS2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for CADPS2 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2069189CNV Deletion18987734
    esv2658553CNV Deletion23128226
    esv2676994CNV Deletion23128226
    esv1407742CNV Deletion17803354
    esv274307CNV Insertion20981092
    esv272058CNV Insertion20981092
    esv272553CNV Insertion20981092
    esv269458CNV Insertion20981092
    esv271903CNV Insertion20981092
    nsv824293CNV Loss20364138

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609978    OMIM disorders: --

    4 diseases for CADPS2:    About MalaCards
    exudative vitreoretinopathy    autism spectrum disorder    cerebritis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for CADPS2:
    Autistic disorder

    CADPS2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CADPS2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autistic 73.1 5 17380209 (2), 17344385 (1), 12659812 (1), 19238500 (1)

    Genetic Association Database (GAD): CADPS2
    Human Genome Epidemiology (HuGE) Navigator: CADPS2 (3 documents)

    Export disorders for CADPS2 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)
    About This Section

    PubMed articles for CADPS2 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with CADPS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family. (PubMed id 12659812)1, 2, 9 Cisternas F.A.... Ray P.N. (2003)
    2. A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function. (PubMed id 14530279)1, 2, 9 Speidel D.... Reim K. (2003)
    3. Voxelwise genome-wide association study (vGWAS). (PubMed id 20171287)1, 4 Stein J.L....Thompson P. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (2009)
    6. Regulation of dense core vesicle release from PC12 cells by interaction between the D2 dopamine receptor and calcium-dependent activator protein for secretion (CAPS). (PubMed id 15857609)1, 2 Binda A.V.... Levenson R. (2005)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (2000)
    10. Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients. (PubMed id 17380209)1, 9 Sadakata T....Furuichi T. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 93664 HGNC: 16018 AceView: CADPS2 Ensembl:ENSG00000081803 euGenes: HUgn93664
    ECgene: CADPS2 H-InvDB: CADPS2

    (According to HUGE)
    About This Section
    HUGE: KIAA1591

    (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 CADPS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CADPS2 gene:
    Search GeneIP for patents involving CADPS2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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