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FLASH GENE

Symbol

CPLX2

contributors: mct/pgu - updated : 07-05-2015

HGNC name	complexin 2
HGNC id	2310

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q35.2      Physical location : 175.223.609 - 175.311.023
Synonym name	synaphin 1
Synonym symbol(s)	EVI120, CLX2, CPX2,921-L, 921-L, CPX-2, CPX2, Hfb1, MGC138492

DNA

TYPE	functioning gene
STRUCTURE	87.00 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	two putative alternative TATA-less promoter regions separated by 74 kb govern the expression of two CPLX2 transcripts

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D5S498 - MSX2 - CPLX2 - D5S408 - qter
Authors	Gene Map (98)

RNA

TRANSCRIPTS	type	messenger

text	two putative alternative TATA-less promoter regions separated by 74 kb govern the expression of two CPLX2 transcripts several potential transcription start sites were detected by primer extension for each of two alternative CPLX2 transcripts

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006650 5 - 4726 - 134 - 2005 16162394 NM_001008220 3 - 4676 - 134 - 2005 16162394

EXPRESSION

Type	restricted

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 Endocrine pancreas         Homo sapiens Nervous brain diencephalon amygdala       nerve cranial nerve

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

highly charged protein, rich in Glu, Asp, Lys, Arg

HOMOLOGY

interspecies

homolog to murine Cplx2

Homologene

FAMILY	complexin/synaphin family
	SNARE complex-binding proteins family

CATEGORY

regulatory , transport

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	colocalized with VAMP 2 along the apical plasma membrane following cholecystokinin-8 stimulation

basic FUNCTION	paying a role in synaptic vesicle exocytosis
	presynaptic protein that modulate neurotransmitter release and are used as markers of inhibitory synapses
	regulate the size of the primed vesicle pools and have a positive role in Ca(2+)-triggered exocytosis (
	can regulates degranulation by interacting with the SNARE complex containing syntaxin-3
	regulate neurotransmitter release by playing a crucial role in triggering fast exocytosis at the synapse (
	functional role outside the nervous system and it participates in the Ca(2+)-sensitive regulatory pathway for zymogen granule exocytosis in pancreas (
	likely key modulator of synaptic activity at the level of astrocytes
	role of CPLX1 and CPLX2 in facilitating vesicle priming, suggesting that Cplxs may synchronize vesicle release by promoting coupling between secretory vesicles and calcium channels
	presynaptic proteins CPLX1 and CPLX2 differentially influence cognitive function in early and late stages of Alzheimer disease

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

exocytosis transport

PATHWAY

metabolism

signaling

neurotransmission

late step in Ca2+ dependent neurotransmitter release regulating a step immediately preceding vesicle function

a component

component of exocytic core complex

INTERACTION

DNA

RNA

small molecule

protein	binding to syntaxin within the SNAP receptor (SNARE) core complex, promoting its oligomerization, essential for synaptic vesicle exocytosis
	CPLX1, CPLX2 facilitate and inhibit neurotransmitter release through distinct domains, and their function was proposed to be coupled to the Ca(2+) sensor synaptotagmin-1 (SYT1)
	bind with high affinity to ternary SNARE complexes and with lower affinity to target SNARE complexes
	interact with vesicle-associated membrane protein (VAMP2), syntaxins 3 and 4, but not with VAMP8 or syntaxin 2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to schizophrenia

Variant & Polymorphism SNP	six single-nucleotide polymorphisms, distributed over the whole CPLX2 gene, were found to be highly associated with current cognition of schizophrenic subjects but only marginally with premorbid intelligence

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed psychiatry     potentially important therapeutic target for the future treatment of neurologic and psychiatric illnesses

ANIMAL & CELL MODELS

	in Cplx2 -null mutant mice, prominent cognitive loss of function was obtained only in combination with a minor brain lesion applied during puberty, modeling a clinically relevant environmental risk ("second hit") for schizophrenia