CADPS2

Protein-coding gene in humans From Wikipedia, the free encyclopedia

CADPS2

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

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CADPS2
Identifiers
AliasesCADPS2, CAPS2, calcium dependent secretion activator 2
External IDsOMIM: 609978; MGI: 2443963; HomoloGene: 23060; GeneCards: CADPS2; OMA:CADPS2 - orthologs
Orthologs
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]
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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

Further reading

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