Human Gene CADPS2 (uc022akr.1)
  Description: Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 1, mRNA.
RefSeq Summary (NM_017954): 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].
Transcript (Including UTRs)
   Position: hg19 chr7:121,958,478-122,526,813 Size: 568,336 Total Exon Count: 30 Strand: -
Coding Region
   Position: hg19 chr7:121,960,219-122,526,391 Size: 566,173 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:121,958,478-122,526,813)mRNA (may differ from genome)Protein (1296 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHuman Cortex Gene ExpressionLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CAPS2_HUMAN
DESCRIPTION: RecName: Full=Calcium-dependent secretion activator 2; AltName: Full=Calcium-dependent activator protein for secretion 2; Short=CAPS-2;
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).
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.
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.
DOMAIN: The PH domain is essential for regulated exocytosis and binds phospholipids (By similarity).
PTM: Isoform 2 is phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 1 C2 domain.
SIMILARITY: Contains 1 MHD1 (MUNC13 homology domain 1) domain.
SIMILARITY: Contains 1 PH domain.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CADPS2
CDC HuGE Published Literature: CADPS2
Positive Disease Associations: Brain , Brain structure , Stroke , Triglycerides
Related Studies:
  1. Brain
    Jason L Stein et al. NeuroImage 2010, Voxelwise genome-wide association study (vGWAS)., NeuroImage. [PubMed 20171287]
  2. Brain structure
    Stein ,et al. Neuroimage 2010, Voxelwise Genome-Wide Association Study , NeuroImage 2010 . [PubMed 20171287]
  3. Stroke
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CADPS2
Diseases sorted by gene-association score: cyclothymic disorder (9), autistic disorder (6), persistent hyperplastic primary vitreous (6), autism spectrum disorder (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 74.49 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 348.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -188.00422-0.445 Picture PostScript Text
3' UTR -407.041741-0.234 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR010439 - Ca-dep_secretion_activator
IPR014770 - Munc13_1
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain
PF06292 - Domain of Unknown Function (DUF1041)

SCOP Domains:
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q86UW7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008289 lipid binding
GO:0046872 metal ion binding

Biological Process:
GO:0006887 exocytosis
GO:0009267 cellular response to starvation
GO:0015031 protein transport
GO:0016079 synaptic vesicle exocytosis
GO:0016082 synaptic vesicle priming
GO:0045921 positive regulation of exocytosis
GO:1990504 dense core granule exocytosis

Cellular Component:
GO:0005654 nucleoplasm
GO:0016020 membrane
GO:0030054 cell junction
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0042734 presynaptic membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AK126518 - Homo sapiens cDNA FLJ44554 fis, clone UTERU3007419, highly similar to Calcium-dependent secretion activator 2.
AF401638 - Homo sapiens CADPS2 mRNA, complete cds.
AK054853 - Homo sapiens cDNA FLJ30291 fis, clone BRACE2002896, highly similar to Calcium-dependent secretion activator 2.
AK000768 - Homo sapiens cDNA FLJ20761 fis, clone HEP00317.
AB046811 - Homo sapiens mRNA for KIAA1591 protein, partial cds.
BC136601 - Homo sapiens Ca++-dependent secretion activator 2, mRNA (cDNA clone MGC:168214 IMAGE:9020591), complete cds.
BC144278 - Homo sapiens Ca++-dependent secretion activator 2, mRNA (cDNA clone MGC:177815 IMAGE:9052798), complete cds.
BC144279 - Homo sapiens Ca++-dependent secretion activator 2, mRNA (cDNA clone MGC:177816 IMAGE:9052799), complete cds.
AY264289 - Homo sapiens Ca2+-dependent activator protein for secretion 2 mRNA, complete cds.
AK025672 - Homo sapiens cDNA: FLJ22019 fis, clone HEP07982.
AL833058 - Homo sapiens mRNA; cDNA DKFZp666M069 (from clone DKFZp666M069).
KJ534798 - Homo sapiens clone CADPS2_iso-C_adult-A02 Ca++-dependent secretion activator 2 isoform C (CADPS2) mRNA, partial cds, alternatively spliced.
KJ534799 - Homo sapiens clone CADPS2_iso-H_adult-A04 Ca++-dependent secretion activator 2 isoform H (CADPS2) mRNA, partial cds, alternatively spliced.
KJ534800 - Homo sapiens clone CADPS2_iso-F_adult-A06 Ca++-dependent secretion activator 2 isoform F (CADPS2) mRNA, partial cds, alternatively spliced.
KJ534801 - Homo sapiens clone CADPS2_iso-D_adult-A07 Ca++-dependent secretion activator 2 isoform D (CADPS2) mRNA, partial cds, alternatively spliced.
KJ534802 - Homo sapiens clone CADPS2_iso-E_fetal-F03 Ca++-dependent secretion activator 2 isoform E (CADPS2) mRNA, partial cds, alternatively spliced.
KJ534803 - Homo sapiens clone CADPS2_iso-B_fetal-F04 Ca++-dependent secretion activator 2 isoform B (CADPS2) mRNA, partial cds, alternatively spliced.
KJ534804 - Homo sapiens clone CADPS2_iso-A_fetal-F12 Ca++-dependent secretion activator 2 isoform A (CADPS2) mRNA, partial cds, alternatively spliced.
KJ534805 - Homo sapiens clone CADPS2_iso-F_fetal-F13 Ca++-dependent secretion activator 2 isoform F (CADPS2) mRNA, partial cds, alternatively spliced.
KJ535060 - Homo sapiens clone CADPS2_iso-G_adult-A16 Ca++-dependent secretion activator 2 isoform G (CADPS2) mRNA, complete cds, alternatively spliced.
AK098170 - Homo sapiens cDNA FLJ40851 fis, clone TRACH2014997.
BC054339 - Homo sapiens Ca++-dependent secretion activator 2, mRNA (cDNA clone IMAGE:6150934), partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D0X3, B7ZM56, CAPS2, CAPS2_HUMAN, CCDS55158, KIAA1591, NM_017954, NP_060424, Q658Q2, Q7Z5T7, Q86UW7, Q8IZW9, Q8N7M4, Q9H6P4, Q9HCI1, Q9NWK8
UCSC ID: uc022akr.1
RefSeq Accession: NM_017954
Protein: Q86UW7 (aka CAPS2_HUMAN)
CCDS: CCDS47691.1, CCDS55158.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: CCDS55158.1
exon count: 30CDS single in 3' UTR: no RNA size: 6054
ORF size: 3891CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7982.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.