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... See more...

Aliases for CADPS2 Gene

Aliases for CADPS2 Gene

  • Calcium Dependent Secretion Activator 2 2 3 5
  • CAPS2 2 3 4
  • Calcium-Dependent Activator Protein For Secretion 2 3 4
  • Calcium-Dependent Secretion Activator 2 3 4
  • Ca2+ Dependent Secretion Activator 2 2 3
  • CAPS-2 3 4
  • Ca++-Dependent Activator Protein For Secretion 2 2
  • Ca2+-Dependent Activator Protein For Secretion 2 3
  • Ca++-Dependent Secretion Activator 2 3
  • KIAA1591 4
  • CADPS2 5

External Ids for CADPS2 Gene

Previous GeneCards Identifiers for CADPS2 Gene

  • GC00U991034
  • GC07U900025
  • GC07M121500
  • GC07M121514
  • GC07M121553
  • GC07M121746
  • GC07M121958
  • GC07M116321

Summaries for CADPS2 Gene

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 (Calcium Dependent Secretion Activator 2) is a Protein Coding gene. Diseases associated with CADPS2 include Autism and Autism Spectrum Disorder. Gene Ontology (GO) annotations related to this gene include lipid binding.

UniProtKB/Swiss-Prot Summary for CADPS2 Gene

  • 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CADPS2 Gene

Genomics for CADPS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CADPS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J122885 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.1 1058 3.8 CTCF PRDM10 REST TFE3 NFKBIZ KDM1A ZNF692 BACH1 LARP7 ZIC2 CADPS2 HSALNG0060995 NDUFA5 LOC100422456 RNF148
GH07J123410 Enhancer 0.9 Ensembl ENCODE 23.8 -523.8 -523846 1.2 PRDM10 ZNF629 ZNF692 PRDM1 PATZ1 ZNF561 SCRT2 ZBTB44 KLF7 ZXDB CADPS2 piR-48222-335 piR-56037-066 IQUB SLC13A1
GH07J123797 Enhancer 1.1 Ensembl ENCODE 13.4 -911.4 -911388 2.2 CEBPG GATAD2A CTCF ATF7 ZNF629 TFE3 KDM1A ZNF692 TARDBP FOXA1 CADPS2 ENSG00000272686 HYAL4 RNU6-11P RF00026-1034 HYAL6P lnc-HYAL4-1 SPAM1
GH07J122802 Enhancer 0.9 FANTOM5 Ensembl ENCODE 12.6 +83.8 83758 2.8 CTCF RAD21 TRIM22 PKNOX1 USF1 ELF1 SMC3 ZNF654 MEIS2 BHLHE40 CADPS2 RNF133 TAS2R16 piR-37656-264 piR-36588-422 RNF148
GH07J123351 Enhancer 0.8 Ensembl ENCODE 13.4 -465.5 -465535 2.6 ZNF37A ZNF561 SCRT2 ZBTB44 ZNF491 ATF2 NFIC ZNF184 NFIB NFIA CADPS2 HSALNG0061007 piR-48222-335 SLC13A1 IQUB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CADPS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CADPS2

Top Transcription factor binding sites by QIAGEN in the CADPS2 gene promoter:
  • AML1a
  • AP-1
  • GATA-1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • SEF-1 (1)

Genomic Locations for CADPS2 Gene

Genomic Locations for CADPS2 Gene
chr7:122,318,411-122,886,759
(GRCh38/hg38)
Size:
568,349 bases
Orientation:
Minus strand
chr7:121,958,478-122,526,813
(GRCh37/hg19)
Size:
568,336 bases
Orientation:
Minus strand

Genomic View for CADPS2 Gene

Genes around CADPS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CADPS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CADPS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CADPS2 Gene

Proteins for CADPS2 Gene

  • Protein details for CADPS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UW7-CAPS2_HUMAN
    Recommended name:
    Calcium-dependent secretion activator 2
    Protein Accession:
    Q86UW7
    Secondary Accessions:
    • A4D0X3
    • B7ZM56
    • Q658Q2
    • Q7Z5T7
    • Q8IZW9
    • Q8N7M4
    • Q9H6P4
    • Q9HCI1
    • Q9NWK8

    Protein attributes for CADPS2 Gene

    Size:
    1296 amino acids
    Molecular mass:
    147735 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with the dopamine receptor DRD2.
    SequenceCaution:
    • Sequence=AAH54339.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AK098170; Type=Miscellaneous discrepancy; Note=Chimera.; Evidence={ECO:0000305}; Sequence=BAA91372.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15210.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CADPS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CADPS2 Gene

Post-translational modifications for CADPS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CADPS2 Gene

Domains & Families for CADPS2 Gene

Gene Families for CADPS2 Gene

Protein Domains for CADPS2 Gene

InterPro:
Blocks:
  • C2 domain
  • Pleckstrin-like
ProtoNet:

Suggested Antigen Peptide Sequences for CADPS2 Gene

GenScript: Design optimal peptide antigens:
  • CADPS2 protein (B7ZM57_HUMAN)
  • Calcium-dependent activator protein for secretion 2 (CAPS2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86UW7

UniProtKB/Swiss-Prot:

CAPS2_HUMAN :
  • The PH domain is essential for regulated exocytosis and binds phospholipids.
Domain:
  • The PH domain is essential for regulated exocytosis and binds phospholipids.
genes like me logo Genes that share domains with CADPS2: view

Function for CADPS2 Gene

Molecular function for CADPS2 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for CADPS2 Gene

Gene Ontology (GO) - Molecular Function for CADPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CADPS2: view
genes like me logo Genes that share phenotypes with CADPS2: view

Animal Models for CADPS2 Gene

MGI Knock Outs for CADPS2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CADPS2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CADPS2 Gene

Localization for CADPS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CADPS2 Gene

Cytoplasmic vesicle membrane. Peripheral membrane protein. Cytoplasmic side. 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CADPS2 gene
Compartment Confidence
nucleus 4
plasma membrane 3
mitochondrion 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CADPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with CADPS2: view

Pathways & Interactions for CADPS2 Gene

PathCards logo

SuperPathways for CADPS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CADPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IBA 21873635
GO:0009267 cellular response to starvation IEA --
GO:0015031 protein transport IEA --
GO:0016079 synaptic vesicle exocytosis IEA --
GO:0016082 synaptic vesicle priming IEA --
genes like me logo Genes that share ontologies with CADPS2: view

No data available for Pathways by source and SIGNOR curated interactions for CADPS2 Gene

Drugs & Compounds for CADPS2 Gene

(5) Drugs for CADPS2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium citrate Approved, Investigational Pharma Target, agonist 0
Calcium Phosphate Approved Pharma Target, agonist 0
Calcium phosphate dihydrate Approved Pharma Target 0
Dopamine Approved Pharma Agonist, Full agonist 3978
Calcium Nutra 6556
genes like me logo Genes that share compounds with CADPS2: view

Transcripts for CADPS2 Gene

mRNA/cDNA for CADPS2 Gene

15 REFSEQ mRNAs :
31 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CADPS2

Alternative Splicing Database (ASD) splice patterns (SP) for CADPS2 Gene

No ASD Table

Relevant External Links for CADPS2 Gene

GeneLoc Exon Structure for
CADPS2

Expression for CADPS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CADPS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CADPS2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x9.6) and Brain - Cerebellum (x6.6).

Protein differential expression in normal tissues from HIPED for CADPS2 Gene

This gene is overexpressed in Brain (33.4), Frontal cortex (13.1), Monocytes (7.6), and Salivary gland (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CADPS2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CADPS2

SOURCE GeneReport for Unigene cluster for CADPS2 Gene:

Hs.649459

mRNA Expression by UniProt/SwissProt for CADPS2 Gene:

Q86UW7-CAPS2_HUMAN
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.

Evidence on tissue expression from TISSUES for CADPS2 Gene

  • Nervous system(4.8)
  • Skin(4.3)
  • Stomach(4.2)
genes like me logo Genes that share expression patterns with CADPS2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CADPS2 Gene

Orthologs for CADPS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CADPS2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CADPS2 30 31
  • 99.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CADPS2 31
  • 93 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CADPS2 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CADPS2 30 31
  • 92.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CADPS2 30 31
  • 90.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cadps2 30 17 31
  • 90.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cadps2 30
  • 89.87 (n)
Chicken
(Gallus gallus)
Aves CADPS2 30 31
  • 84.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CADPS2 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cadps2 30
  • 76.83 (n)
Str.19227 30
Zebrafish
(Danio rerio)
Actinopterygii cadps2 30 31
  • 75 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Caps 31
  • 49 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-31 31
  • 45 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 60 (a)
OneToMany
Species where no ortholog for CADPS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CADPS2 Gene

ENSEMBL:
Gene Tree for CADPS2 (if available)
TreeFam:
Gene Tree for CADPS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CADPS2: view image

Paralogs for CADPS2 Gene

(1) SIMAP similar genes for CADPS2 Gene using alignment to 8 proteins:

  • CAPS2_HUMAN
  • B7ZM57_HUMAN
  • C9IYE1_HUMAN
  • F8W8P5_HUMAN
  • H0Y8B5_HUMAN
  • H7BYR4_HUMAN
  • L8E7C0_HUMAN
  • L8E9J4_HUMAN
genes like me logo Genes that share paralogs with CADPS2: view

No data available for Paralogs for CADPS2 Gene

Variants for CADPS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CADPS2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
709237 Likely Benign: not provided 122,615,171(-) A/G INTRON_VARIANT
714357 Benign: not provided 122,416,159(-) T/C MISSENSE_VARIANT
715005 Benign: not provided 122,663,396(-) G/A SYNONYMOUS_VARIANT
715236 Likely Benign: not provided 122,387,076(-) C/T MISSENSE_VARIANT
716941 Benign: not provided 122,621,571(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CADPS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CADPS2 Gene

Variant ID Type Subtype PubMed ID
dgv3657n106 CNV deletion 24896259
esv1407742 CNV deletion 17803354
esv2069189 CNV deletion 18987734
esv2658553 CNV deletion 23128226
esv2676994 CNV deletion 23128226
esv3361609 CNV insertion 20981092
esv3572117 CNV loss 25503493
esv3576426 CNV gain 25503493
esv3614841 CNV loss 21293372
esv3614844 CNV gain 21293372
esv3891198 CNV gain 25118596
nsv1033520 CNV loss 25217958
nsv1115003 CNV deletion 24896259
nsv1117757 CNV deletion 24896259
nsv1128364 CNV deletion 24896259
nsv1137286 CNV deletion 24896259
nsv1148029 CNV duplication 26484159
nsv524192 CNV gain 19592680
nsv5931 CNV deletion 18451855
nsv824293 CNV loss 20364138
nsv956004 CNV deletion 24416366
nsv981573 CNV duplication 23825009

Variation tolerance for CADPS2 Gene

Residual Variation Intolerance Score: 3.38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CADPS2 Gene

Human Gene Mutation Database (HGMD)
CADPS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CADPS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CADPS2 Gene

Disorders for CADPS2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CADPS2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autism
  • autistic disorder
autism spectrum disorder
  • asd
cyclothymic disorder
  • affective personality disorder
persistent hyperplastic primary vitreous
  • congenital retinal detachment
pervasive developmental disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CADPS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CADPS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CADPS2 Gene

Publications for CADPS2 Gene

  1. Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family. (PMID: 12659812) Cisternas FA … Ray PN (Genomics 2003) 3 4 23
  2. A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function. (PMID: 14530279) Speidel D … Reim K (The Journal of biological chemistry 2003) 3 4 23
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Voxelwise genome-wide association study (vGWAS). (PMID: 20171287) Stein JL … Alzheimer's Disease Neuroimaging Initiative (NeuroImage 2010) 3 41
  5. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M … van Ree JM (Biological psychiatry 2009) 3 41

Products for CADPS2 Gene

Sources for CADPS2 Gene