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// Workers AI · dad joke modeWhat did CADPS2 say to its date? You cad, PS2 be mine.

From Wikipedia, the free encyclopedia

CADPS2
Identifiers
AliasesCADPS2, CAPS2, calcium dependent secretion activator 2
External IDsOMIM: 609978; MGI: 2443963; GeneCards: CADPS2
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
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

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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

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This gene interacts with brain-derived neurotrophic factor.

Clinical significance

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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

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  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000081803 – Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: CADPS2 Ca2+-dependent activator protein for secretion 2". National Center for Biotechnology Information.
  6. 1 2 Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, et al. (April 2007). "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients". The Journal of Clinical Investigation. 117 (4): 931–943. doi:10.1172/JCI29031. PMC 1821065. PMID 17380209.
  7. ↑ Eran A, Graham KR, Vatalaro K, McCarthy J, Collins C, Peters H, et al. (April 2009). "Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients"". The Journal of Clinical Investigation. 119 (4): 679–80, author reply 680–1. doi:10.1172/JCI38620. PMC 2662571. PMID 19339759.
  8. ↑ French L, Pavlidis P (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, Ho AJ, Leow AD, Toga AW, et al. (November 2010). "Voxelwise genome-wide association study (vGWAS)". NeuroImage. 53 (3): 1160–1174. doi:10.1016/j.neuroimage.2010.02.032. PMC 2900429. PMID 20171287.
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Further reading

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