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    CADPS2 Ca++-dependent secretion activator 2 [ Homo sapiens (human) ]

    Gene ID: 93664, updated on 5-May-2013
    Official Symbol
    CADPS2provided by HGNC
    Official Full Name
    Ca++-dependent secretion activator 2provided by HGNC
    Primary source
    HGNC:16018
    See related
    Ensembl:ENSG00000081803; HPRD:12996; MIM:609978
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Location :
    7q31.3
    Sequence :
    Chromosome: 7; NC_000007.13 (121958478..122526813, complement)
    See CADPS2 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 37 Neighboring gene FEZF1 antisense RNA 1 Neighboring gene FEZ family zinc finger 1 Neighboring gene ribosomal protein S26 pseudogene 31 Neighboring gene ring finger protein 133 Neighboring gene ring finger protein 148 Neighboring gene v-rel reticuloendotheliosis viral oncogene homolog A (avian) pseudogene Neighboring gene taste receptor, type 2, member 16 Neighboring gene solute carrier family 13 (sodium/sulfate symporters), member 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Blood CADPS2ΔExon3 expression is associated with intelligence and memory in healthy adults. Hattori K, et al. Biol Psychol, 2012 Jan. PMID 22001167.
    2. Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV. Okamoto N, et al. Am J Med Genet A, 2011 Jul. PMID 21626674.
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    4. Voxelwise genome-wide association study (vGWAS). Stein JL, et al. Neuroimage, 2010 Nov 15. PMID 20171287.
    5. A comprehensive framework of E2-RING E3 interactions of the human ubiquitin-proteasome system. van Wijk SJ, et al. Mol Syst Biol, 2009. PMID 19690564.

    See all (18) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. This study suggested that CADPS2DeltaExon3 affects intelligence and memory in the non-clinical population.
      Title: Blood CADPS2ΔExon3 expression is associated with intelligence and memory in healthy adults.
    2. We speculate that haploinsufficiency of CADPS2 contributes to ASDs.
      Title: Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Voxelwise genome-wide association study (vGWAS).
    5. Genetic disturbance in CADPS2-mediated neurotrophin release contributes to autism susceptibility.
      Title: Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.
    6. CAPS proteins are involved in optimizing vesicular monoamine uptake and storage mediated by VMAT1 and VMAT2
      Title: Ca2+-dependent activator proteins of secretion promote vesicular monoamine uptake.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: A common variant in DRD3 receptor is associated with autism spectrum disorder.
    8. identification, cloning, and comparative characterization of a second mammalian CAPS isoform, CAPS2; concluded that at the functional level, CAPS2 is largely redundant with CAPS1
      Title: A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function.
    9. CADPS2-KO mice show autistic-like phenotypes. Moreover, the results show that some autistic patients have an aberrant splicing variant of CADPS2 mRNA, suggesting that a disturbance in CADPS2-mediated neurotrophin release contributes to autism.
      Title: Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.
    10. Results from Cadps2-deficient mice and human data suggest that a disturbance in CADPS2-mediated neurotrophin release contributes to autistic-like cellular and behavioral phenotypes.
      Title: Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q86UW7 P23560 BDNF    HPRD  PubMed  
    Q86UW7 P11532 DMD    HPRD  PubMed  
    Q86UW7 P14416 DRD2    HPRD  PubMed  
    Q86UW7 MEGF10 protein MEGF10    HPRD  PubMed  
    BioGRID:125051 BioGRID:113169 UBE2D1    BioGRID  PubMed Two-hybrid 
    BioGRID:125051 BioGRID:113170 UBE2D2    BioGRID  PubMed Two-hybrid 
    BioGRID:125051 BioGRID:113171 UBE2D3    BioGRID  PubMed Two-hybrid 
    BioGRID:125051 BioGRID:119641 UBE2D4    BioGRID  PubMed Two-hybrid 
    BioGRID:125051 BioGRID:113172 UBE2E1    BioGRID  PubMed Two-hybrid 
    BioGRID:125051 BioGRID:115740 UBE2E3    BioGRID  PubMed Two-hybrid 
    BioGRID:125051 BioGRID:113182 UBE2N    BioGRID  PubMed Two-hybrid 
    BioGRID:125051 BioGRID:127156 UBE2U    BioGRID  PubMed Two-hybrid 
    BioGRID:125051 BioGRID:120572 UBE2W    BioGRID  PubMed Two-hybrid 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ40851, KIAA1591

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    positive regulation of exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic vesicle priming IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    calcium-dependent secretion activator 2
    Names
    calcium-dependent secretion activator 2
    CAPS-2
    Ca2+-dependent activator protein for secretion 2
    calcium-dependent activator protein for secretion 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016215.1 RefSeqGene

      Range
      5001..573336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001009571.3 → NP_001009571.2  calcium-dependent secretion activator 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three alternate in-frame exons and includes an alternate in-frame exon, compared to variant 3. The resulting isoform (b) differs in four regions and is shorter compared to isoform c.
      Source sequence(s)
      AB046811, AC015983, AF401638, BX110721, DA118516, DA248542
      Consensus CDS
      CCDS47691.1
      UniProtKB/Swiss-Prot
      Q86UW7
      Related
      ENSP00000325581, ENST00000313070
      Conserved Domains (3) summary
      pfam06292
      Location:797 – 888
      Blast Score: 336
      DUF1041; Domain of Unknown Function (DUF1041)
      smart00239
      Location:366 – 448
      Blast Score: 86
      C2; Protein kinase C conserved region 2 (CalB)
      cl00273
      Location:487 – 596
      Blast Score: 544
      PH-like; Pleckstrin homology-like domain

    2. NM_001167940.1 → NP_001161412.1  calcium-dependent secretion activator 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AC015983, AF401638, BC144279, BX110721, DA118516, DA248542
      UniProtKB/TrEMBL
      B7ZM57
      UniProtKB/Swiss-Prot
      Q86UW7
      Conserved Domains (3) summary
      pfam06292
      Location:800 – 898
      Blast Score: 354
      DUF1041; Domain of Unknown Function (DUF1041)
      smart00239
      Location:366 – 448
      Blast Score: 86
      C2; Protein kinase C conserved region 2 (CalB)
      cl00273
      Location:487 – 596
      Blast Score: 547
      PH-like; Pleckstrin homology-like domain

    3. NM_017954.10 → NP_060424.9  calcium-dependent secretion activator 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon and includes an alternate in-frame exon, compared to variant 3. The resulting isoform (a) differs in two regions and is shorter compared to isoform c.
      Source sequence(s)
      AB046811, AC015983, AY264289, BC144278, BX110721, DA118516, DA248542
      Consensus CDS
      CCDS55158.1
      UniProtKB/Swiss-Prot
      Q86UW7
      Related
      ENSP00000333940, ENST00000334010
      Conserved Domains (3) summary
      pfam06292
      Location:800 – 894
      Blast Score: 355
      DUF1041; Domain of Unknown Function (DUF1041)
      smart00239
      Location:366 – 448
      Blast Score: 86
      C2; Protein kinase C conserved region 2 (CalB)
      cl00273
      Location:487 – 596
      Blast Score: 547
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p10 Primary Assembly

      Range
      121958478..122526813, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      116321864..116889045, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      121353164..121915693, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018918.1 Alternate CHM1_1.0

      Range
      125307340..125875538, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AACC02000001.1 (5570765..6133294) None
    genomic ABBA01057742.1 (94488..235326) None
    genomic ABBA01057743.1 None
    genomic ABBA01057744.1 None
    genomic ABBA01057745.1 None
    genomic ABBA01057746.1 None
    genomic ABBA01057747.1 None
    genomic ABBA01057748.1 None
    genomic AC004594.2 None
    genomic AC004838.2 (120143..142992) None
    genomic AC004986.2 (201..125290) None
    genomic AC006009.2 None
    genomic AC015983.7 (154978..177276) None
    genomic AC091438.4 None
    genomic AMYH01017899.1 (37313..424339) None
    genomic AMYH01017900.1 None
    genomic CH236947.1 EAL24339.1
    genomic CH471070.1 EAW83571.1
      EAW83572.1
      EAW83573.1
      EAW83574.1
      EAW83575.1
      EAW83576.1
    mRNA AB046811.1 BAB13417.1
    mRNA AF401638.1 AAN38707.1
    mRNA AK000768.1 BAA91372.1
    mRNA AK025672.1 BAB15210.1
    mRNA AK054853.1 BAG51434.1
    mRNA AK126518.1 BAG54341.1
    mRNA AL833058.1 CAH56288.1
    mRNA AY264289.1 AAP22132.1
    mRNA BC054339.1 AAH54339.1
    mRNA BC136601.1 AAI36602.1
    mRNA BC144278.1 AAI44279.1
    mRNA BC144279.1 AAI44280.1
    mRNA BX110721.1 None
    mRNA DA118516.1 None
    mRNA DA248542.1 None
    mRNA DA323097.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UW7.2 GenPept UniProtKB/Swiss-Prot:Q86UW7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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      • PubMed (GeneRIF)
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        Citations in PubMed identified from shared sequence and PMC links.
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