[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Brain;
Ikeda M.,
Takehara N.,
Ebisawa T.,
Yamauchi T.,
Nomura M.;
"cDNA cloning and characterization of Per2S, an alternatively spliced human Per2 variant.";
Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases.
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PHOSPHORYLATION, AND INTERACTION WTIN CSNK1D.
TISSUE=Brain;
DOI=10.1016/S0014-5793(00)02434-0; PubMed=11165242 [NCBI, ExPASy, EBI, Israel, Japan]
Camacho F.,
Cilio M.,
Guo Y.,
Virshup D.M.,
Patel K.,
Khorkova O.,
Styren S.,
Morse B.,
Yao Z.,
Keesler G.A.;
"Human casein kinase Idelta phosphorylation of human circadian clock proteins period 1 and 2.";
FEBS Lett. 489:159-165(2001).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
DOI=10.1093/dnares/4.2.141; PubMed=9205841 [NCBI, ExPASy, EBI, Israel, Japan]
Nagase T.,
Ishikawa K.,
Nakajima D.,
Ohira M.,
Seki N.,
Miyajima N.,
Tanaka A.,
Kotani H.,
Nomura N.,
Ohara O.;
"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.";
DNA Res. 4:141-150(1997).
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[4]
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SEQUENCE REVISION TO C-TERMINUS.
Nagase T.,
Ishikawa K.,
Seki N.,
Nakajima D.,
Ohira M.,
Miyajima N.,
Kotani H.,
Nomura N.,
Ohara O.;
Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03466; PubMed=15815621 [NCBI, ExPASy, EBI, Israel, Japan]
Hillier L.W.,
Graves T.A.,
Fulton R.S.,
Fulton L.A.,
Pepin K.H.,
Minx P.,
Wagner-McPherson C.,
Layman D.,
Wylie K.,
Sekhon M.,
Becker M.C.,
Fewell G.A.,
Delehaunty K.D.,
Miner T.L.,
Nash W.E.,
Kremitzki C.,
Oddy L.,
Du H.,
Sun H., ![]()
Bradshaw-Cordum H.,
Ali J.,
Carter J.,
Cordes M.,
Harris A.,
Isak A.,
van Brunt A.,
Nguyen C.,
Du F.,
Courtney L.,
Kalicki J.,
Ozersky P.,
Abbott S.,
Armstrong J.,
Belter E.A.,
Caruso L.,
Cedroni M.,
Cotton M.,
Davidson T.,
Desai A.,
Elliott G.,
Erb T.,
Fronick C.,
Gaige T.,
Haakenson W.,
Haglund K.,
Holmes A.,
Harkins R.,
Kim K.,
Kruchowski S.S.,
Strong C.M.,
Grewal N.,
Goyea E.,
Hou S.,
Levy A.,
Martinka S.,
Mead K.,
McLellan M.D.,
Meyer R.,
Randall-Maher J.,
Tomlinson C.,
Dauphin-Kohlberg S.,
Kozlowicz-Reilly A.,
Shah N.,
Swearengen-Shahid S.,
Snider J.,
Strong J.T.,
Thompson J.,
Yoakum M.,
Leonard S.,
Pearman C.,
Trani L.,
Radionenko M.,
Waligorski J.E.,
Wang C.,
Rock S.M.,
Tin-Wollam A.-M.,
Maupin R.,
Latreille P.,
Wendl M.C.,
Yang S.-P.,
Pohl C.,
Wallis J.W.,
Spieth J.,
Bieri T.A.,
Berkowicz N.,
Nelson J.O.,
Osborne J.,
Ding L.,
Meyer R.,
Sabo A.,
Shotland Y.,
Sinha P.,
Wohldmann P.E.,
Cook L.L.,
Hickenbotham M.T.,
Eldred J.,
Williams D.,
Jones T.A.,
She X.,
Ciccarelli F.D.,
Izaurralde E.,
Taylor J.,
Schmutz J.,
Myers R.M.,
Cox D.R.,
Huang X.,
McPherson J.D.,
Mardis E.R.,
Clifton S.W.,
Warren W.C.,
Chinwalla A.T.,
Eddy S.R.,
Marra M.A.,
Ovcharenko I.,
Furey T.S.,
Miller W.,
Eichler E.E.,
Bork P.,
Suyama M.,
Torrents D.,
Waterston R.H.,
Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.";
Nature 434:724-731(2005).
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[6]
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TISSUE SPECIFICITY.
DOI=10.1016/S0896-6273(00)80417-1; PubMed=9427249 [NCBI, ExPASy, EBI, Israel, Japan]
Shearman L.P.,
Zylka M.J.,
Weaver D.R.,
Kolakowski L.F. Jr.,
Reppert S.M.;
"Two period homologs: circadian expression and photic regulation in the suprachiasmatic nuclei.";
Neuron 19:1261-1269(1997).
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[7]
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INDUCTION.
DOI=10.1042/BJ20031308; PubMed=14750904 [NCBI, ExPASy, EBI, Israel, Japan]
Miyazaki K.,
Nagase T.,
Mesaki M.,
Narukawa J.,
Ohara O.,
Ishida N.;
"Phosphorylation of clock protein PER1 regulates its circadian degradation in normal human fibroblasts.";
Biochem. J. 380:95-103(2004).
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[8]
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VARIANT FASPS GLY-662, INTERACTION WITH CSNK1E, PHOSPHORYLATION AT SER-662, AND MUTAGENESIS OF SER-662.
DOI=10.1126/science.1057499; PubMed=11232563 [NCBI, ExPASy, EBI, Israel, Japan]
Toh K.L.,
Jones C.R.,
He Y.,
Eide E.J.,
Hinz W.A.,
Virshup D.M.,
Ptacek L.J.,
Fu Y.-H.;
"An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.";
Science 291:1040-1043(2001).
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[9]
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VARIANT [LARGE SCALE ANALYSIS] VAL-823.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T.,
Jones S.,
Wood L.D.,
Parsons D.W.,
Lin J.,
Barber T.D.,
Mandelker D.,
Leary R.J.,
Ptak J.,
Silliman N.,
Szabo S.,
Buckhaults P.,
Farrell C.,
Meeh P.,
Markowitz S.D.,
Willis J.,
Dawson D.,
Willson J.K.V.,
Gazdar A.F., ![]()
Hartigan J.,
Wu L.,
Liu C.,
Parmigiani G.,
Park B.H.,
Bachman K.E.,
Papadopoulos N.,
Vogelstein B.,
Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
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- FUNCTION: Component of the circadian clock mechanism which is essential for generating circadian rhythms. Negative element in the circadian transcriptional loop. Influences clock function by interacting with other circadian regulatory proteins and transporting them to the nucleus. Negatively regulates CLOCK|NPAS2-BMAL1|BMAL2-induced transactivation (By similarity).
- SUBUNIT: Component of the circadian core oscillator, which includes the CRY proteins, CLOCK or NPAS2, BMAL1 or BMAL2, CSNK1D and/or CSNK1E, TIMELESS, and the PER proteins. Interacts directly with PER1 and PER3, and through a C-terminal domain, with CRY1 and CRY2. Interaction with CSNK1D or CSNK1E promotes nuclear location of PER proteins. Interacts, via its second PAS domain, with TIMELESS in vitro. Interacts with NFIL3 (By similarity).
- INTERACTION:
P49674:CSNK1E; NbExp=1; IntAct=EBI-1054296, EBI-749343;
- SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm (By similarity). Note=Mainly nuclear. Nucleocytoplasmic shuttling is effected by interaction with other circadian core oscillator proteins and/or by phosphorylation. Retention of PER1 in the cytoplasm occurs through PER1-PER2 heterodimer formation or by interaction with CSNK1E and/or phosphorylation which appears to mask the PER nuclear localization signal. Also translocated to the nucleus by CRY1 or CRY2 (By similarity).
- ALTERNATIVE PRODUCTS:
2 named isoforms [FASTA] produced by alternative splicing.
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| Name | 2 |
| Synonyms | PER2S |
| Isoform ID | O15055-2 |
| Note: No experimental confirmation available. |
| Features which should be applied to build the isoform sequence: VSP_021653, VSP_021654. |
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- TISSUE SPECIFICITY: Widely expressed. Found in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. High levels in skeletal muscle and pancreas. Low level in lung.
- INDUCTION: Serum-induced levels in fibroblasts show circadian oscillations. Maximum levels after 1 hour stimulation, minimum levels after 12 hours. Another peak is then observed after 24 hours.
- PTM: Phosphorylated by CSNK1E and CSNK1D. Phosphorylation results in PER2 protein degradation.
- DISEASE: Defects in PER2 are a cause of familial advanced sleep-phase syndrome (FASPS) [MIM:604348]. FASPS is characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms.
- SIMILARITY: Contains 1 PAC (PAS-associated C-terminal) domain.
- SIMILARITY: Contains 2 PAS (PER-ARNT-SIM) domains.
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