CADPS2

CADPS2
Identifiers
Aliases	CADPS2 , CAPS2, calcium dependent secretion activator 2
External IDs	OMIM: 609978; MGI: 2443963; HomoloGene: 23060; GeneCards: CADPS2; OMA:CADPS2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7q31.32 Start 122,318,411 bp [1] End 122,886,759 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 A3.1 Start 23,262,772 bp [2] End 23,839,420 bp [2]
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 6: 23.26 – 23.84 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000081803 – Ensembl, May 2017
2. 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. "Entrez Gene: CADPS2 Ca2+-dependent activator protein for secretion 2". National Center for Biotechnology Information.
6. 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.

External links

• Human CADPS2 genome location and CADPS2 gene details page in the UCSC Genome Browser .

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.