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FLASH GENE

Symbol

PER2

contributors: mct/npt - updated : 20-12-2016

HGNC name	period homolog 2 (Drosophila)
HGNC id	8846

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FASPS familial advanced sleep phase syndrome
Location	2q37.3      Physical location : 239.152.679 - 239.197.207
Synonym name	period circadian protein 2
	period 2
Synonym symbol(s)	KIAA0347, FASPS

DNA

TYPE	functioning gene
STRUCTURE	44.53 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022817 23 - 6342 NP_073728 139 1255 ubiquitous Shearman (1997) variant 2 - splicing 1228 isoform 2 - 404 widely Shearman, Ikeda also called PER2s

EXPRESSION

Type

widely

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 Cardiovascular heart         Digestive liver         Endocrine pancreas         Nervous brain diencephalon hypothalamus suprachiasmatic nuclei   Respiratory respiratory tract larynx     highly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum cardiac   highly Muscular striatum skeletal     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a central CKI epsilon-binding motif for phosphorylation
	a N terminal Per-ARNT-Sim (PAS) 300 AA dimerization domain
	a helix-loop-helix (HLH) motif
	three putative nuclear localization signals (NLS)

HOMOLOGY

interspecies	homolog to Drosophila period gene
	homolog to murine Per2
	homolog to C.elegans h39e23.1a

intraspecies

homolog to PER1

Homologene

FAMILY

basic helix-loop-helix family of transcription factor

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	potential regulator of circadian rhythm at the transcriptional level
	playing a crucial role for resetting the central clock in response to light
	influences the glutamatergic system and modulates alcohol consumption
	controls circadian periods through nuclear localization in the suprachiasmatic nucleus and can modulate a sleep molecular mechanism (Miyazaki 2007)
	CRY2 and PER2 affect distinct pathways in the regulation of bone volume 5)
	CRY2 influencing mostly the osteoclastic cellular component of bone and PER2 acting on osteoblast parameters 5)

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

circadian

PATHWAY

metabolism

signaling

a component

compoment of the circadian clock

INTERACTION

DNA

RNA

small molecule

protein	ARNTL (BMAL1)
	a functional partnership between ARNTL2 and PER2 (role of PER2 in the circadian transcription) (Sasaki 2009)
	DNA-binding of NPAS2 and ARNTL to PER2 was decreased by sleep deprivation (SD), although SD is known to increase PER2 expression in the cortex (PMId: 22039518)
	PML is a circadian clock regulator that can physically interact with PER2
	PRKCDBP is a new cytoplasmic PER2-interacting protein influencing circadian clock properties
	KHSRP promotes decay of PER2 mRNA through an RNA-protein interaction and show that increased PER2 expression is responsible for the phase delay in cycling of several clock genes in the absence of KHSRP

cell & other

REGULATION

induced by

conduction of NIAS2 and ARNTL (BMAL1)

Other

regulated by phosphorylation (precisely controls the period and phase of circadian oscillations) (Maier 2009)

ASSOCIATED DISORDERS

corresponding disease(s)

FASPS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   deregulation in breast cancer not caused by genetic mutations but most probably by methylation of the PER2 promoter

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	combined PER2 and CRY1 expression predicts outcome in chronic lymphocytic leukemia
Therapy target

ANIMAL & CELL MODELS

dominant role of PER2 in the positive regulator of (BMAL1) loop