CADPS2

Protein-coding gene in humans
CADPS2
Identifiers
AliasesCADPS2, CAPS2, calcium dependent secretion activator 2
External IDsOMIM: 609978; MGI: 2443963; HomoloGene: 23060; GeneCards: CADPS2; OMA:CADPS2 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for CADPS2
Genomic location for CADPS2
Band7q31.32Start122,318,411 bp[1]
End122,886,759 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for CADPS2
Genomic location for CADPS2
Band6|6 A3.1Start23,262,772 bp[2]
End23,839,420 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • cerebellar vermis

  • cerebellar hemisphere

  • right hemisphere of cerebellum

  • parotid gland

  • Brodmann area 23

  • primary visual cortex

  • endothelial cell

  • middle temporal gyrus

  • gastric mucosa

  • Brodmann area 46
Top expressed in
  • habenula

  • gray matter layer of cerebellum

  • lobe of cerebellum

  • suprachiasmatic nucleus

  • cerebellar vermis

  • granular layer

  • Region I of hippocampus proper

  • substantia nigra

  • subiculum

  • olfactory system
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • metal ion binding
  • lipid binding
Cellular component
  • cell junction
  • postsynaptic membrane
  • cytoplasmic vesicle
  • synapse
  • cytoplasmic vesicle membrane
  • presynaptic membrane
  • intracellular membrane-bounded organelle
  • membrane
  • nucleoplasm
  • parallel fiber to Purkinje cell synapse
  • presynapse
  • glutamatergic synapse
Biological process
  • exocytosis
  • protein transport
  • cellular response to starvation
  • positive regulation of exocytosis
  • synaptic vesicle priming
  • dense core granule exocytosis
  • synaptic vesicle exocytosis
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

93664

320405

Ensembl

ENSG00000081803

ENSMUSG00000017978

UniProt

Q86UW7

Q8BYR5

RefSeq (mRNA)
NM_001009571
NM_001167940
NM_017954
NM_001363389
NM_001363390

NM_001363391
NM_001363392
NM_001363393
NM_001363394
NM_001363395
NM_001363396
NM_001363397
NM_001363398
NM_001363399
NM_001363400

NM_001252105
NM_001252106
NM_001252107
NM_001252108
NM_001252109

NM_001252110
NM_153163

RefSeq (protein)
NP_001009571
NP_001161412
NP_060424
NP_001350318
NP_001350319

NP_001350320
NP_001350321
NP_001350322
NP_001350323
NP_001350324
NP_001350325
NP_001350326
NP_001350327
NP_001350328
NP_001350329

NP_001239034
NP_001239035
NP_001239036
NP_001239037
NP_001239038

NP_001239039
NP_694803
NP_001390537
NP_001390559

Location (UCSC)Chr 7: 122.32 – 122.89 MbChr 6: 23.26 – 23.84 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Calcium-dependent secretion activator 2 is a protein that in humans is encoded by the CADPS2 gene.[5]

Function

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.[5]

Interactions

This gene interacts with brain-derived neurotrophic factor.

Clinical significance

Cadps2 has been linked to autism[6] and is in the 7q autism susceptibility locus (AUTS1). However, the finding of aberrant CADPS2 splicing was not found to be significant in another study.[7]

A knockout mouse model was found to have autistic-like characteristics.[6]

CADPS2 has been linked to human and mouse brain structure in two large genomic studies.[8][9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000081803 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000017978 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: CADPS2 Ca2+-dependent activator protein for secretion 2". National Center for Biotechnology Information.
  6. ^ a b Sadakata, T; Washida, M; Iwayama, Y; et al. (2007). "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients". Journal of Clinical Investigation. 117 (4): 931–43. doi:10.1172/JCI29031. PMC 1821065. PMID 17380209.
  7. ^ Eran, Alal; Graham, Kaitlin R.; Vatalaro, Kayla; et al. (April 2009). "Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients"". Journal of Clinical Investigation. 119 (4): 679–80. doi:10.1172/JCI38620. PMC 2662571. PMID 19339759.
  8. ^ French, L.; Pavlidis, P. (6 January 2011). "Relationships between gene expression and brain wiring in the adult rodent brain". PLOS Computational Biology. 7 (1): e1001049. Bibcode:2011PLSCB...7E1049F. doi:10.1371/journal.pcbi.1001049. PMC 3017102. PMID 21253556.
  9. ^ Stein, JL; Hua, X; Lee, S; et al. (15 November 2010). "Voxelwise genome-wide association study (vGWAS)". NeuroImage. 53 (3): 1160–74. doi:10.1016/j.neuroimage.2010.02.032. PMC 2900429. PMID 20171287.

Further reading

  • Nagase T, Kikuno R, Nakayama M, et al. (2001). "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". DNA Res. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
  • Nakayama M, Kikuno R, Ohara O (2003). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Cisternas FA, Vincent JB, Scherer SW, Ray PN (2003). "Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family". Genomics. 81 (3): 279–91. doi:10.1016/S0888-7543(02)00040-X. PMID 12659812.
  • Speidel D, Varoqueaux F, Enk C, et al. (2004). "A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function". J. Biol. Chem. 278 (52): 52802–9. doi:10.1074/jbc.M304727200. PMID 14530279.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Binda AV, Kabbani N, Levenson R (2005). "Regulation of dense core vesicle release from PC12 cells by interaction between the D2 dopamine receptor and calcium-dependent activator protein for secretion (CAPS)". Biochem. Pharmacol. 69 (10): 1451–61. doi:10.1016/j.bcp.2005.02.015. PMID 15857609.
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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