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FLASH GENE

Symbol

CADPS2

contributors: mct - updated : 04-07-2012

HGNC name	Ca++-dependent secretion activator 2
HGNC id	16018

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7q31.1      Physical location : 121.958.478 - 122.526.813
Synonym name	Ca2+-dependent activator protein for secretion 2
Synonym symbol(s)	CAPS-2, CAPS2, FLJ40851, KIAA1591

DNA

TYPE	functioning gene
STRUCTURE	568.34 kb     30 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017954 30 - 6074 NP_060424 147.6 1296 - 2007 17380209 NM_001009571 28 - 5951 NP_001009571 143.3 1255 - 2007 17380209 NM_001167940 30 - 6086 NP_001161412 - 1300 - 2007 17380209

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain hindbrain cerebellum     Homo sapiens   brain limbic system hippocampus     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens not specific granular cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one PH domain
	N-terminal coiled-coil domain
	a C2 domain
	a C-terminal coiled-coil domain

HOMOLOGY

intraspecies

homolog to CADPS

Homologene

FAMILY

CAPS family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
text	colocalized with BDNF, both synaptically and extrasynaptically in axons of hippocampal neurons
	somal CADPS2 is associated with the Golgi membrane

basic FUNCTION	playing a role in regulation of vesicle trafficking and exocytosis
	CADPS and CADPS2 are essential components of the synaptic vesicle priming machinery
	essential regulator of synaptic vesicle and large dense core vesicle priming in mammalian neurons and neuroendocrine cells
	CADPs and CADPS2 promote monoamine uptake and storage mediated by the vesicular monoamine transporters SLC18A1 and SLC18A2
	enhancing release of BDNF and NTF3, both of which are essential for normal cerebellar development
	dense-core vesicle-associated protein that is involved in the secretion of BDNF
	promotes activity-dependent BDNF secretion during the postnatal period that is critical for the development of hippocampal GABAergic networks
	CADPS2-mediated secretion may contribute to GABA- or BDNF-related network activities and may potentially play a role in psychiatric behavior
	secretory granule associate protein, mediates monoamine transmission and the release of neurotrophins including brain-derived neurotrophic factor (BDNF)
	regulates the exocytosis of catecholamine-containing or neuropeptide-containing dense-core vesicles (DCVs) at secretion sites such as nerve terminals
	exert dual roles in DCV trafficking, mediating trafficking at both the secretion site for exocytosis and at the Golgi complex for biogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associated with secretory vesicles containing brain-derived neurotrophic factor (BDNF) and neurotrophin-3 (NTF3)
	mediates binding and recruitment of the GDP-bound form of ARF4 and ARF5 (members of the membrane-trafficking small GTPase family) to the Golgi membrane

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in the brains of schizophrenic patients

Susceptibility

to autistic-like phenotypes

Variant & Polymorphism other	aberrant alternatively spliced CADPS2 mRNA that lacks exon 3 in some autistic patients

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

CAPS2(-/-) and CAPS1(+/-), CAPS2(-/-) mice, despite having increased insulin sensitivity, are glucose intolerant and that this effect is attributable to a marked reduction of glucose-induced insulin secretion