{ "uniprot_canonical_ac": "O15055-1", "uniprot_ac": "O15055", "uniprot_id": "PER2_HUMAN", "mass": { "chemical_mass": 136579.0, "monoisotopic_mass": 136579.0 }, "refseq": { "ac": "NP_073728", "name": "period circadian protein homolog 2", "summary": "This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" }, "gene_names": [ { "name": "PER2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15055", "id": "O15055" }, { "name": "FASPS; FASPS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728", "id": "NP_073728" }, { "name": "KIAA0347", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15055", "id": "O15055" }, { "name": "PER2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728", "id": "NP_073728" } ], "protein_names": [ { "name": "Period circadian protein homolog 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15055" }, { "name": "Circadian clock protein PERIOD 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15055" }, { "name": "hPER2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15055" }, { "name": "period circadian protein 2; period circadian clock 2; period 2; hPER2; circadian clock protein PERIOD 2; period homolog 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728", "id": "NP_073728" }, { "name": "period circadian protein homolog 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728", "id": "NP_073728" } ], "function": [ { "annotation": "A Three-Way Interaction of Sex, PER2 rs56013859 Polymorphism, and Family Maltreatment in Depressive Symptoms in Adolescents. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" }, { "database": "PubMed", "id": "37761863", "url": "https://glygen.org/publication/PubMed/37761863" } ] }, { "annotation": "Importance of Per2 in cardiac mitochondrial protection during stress. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" }, { "database": "PubMed", "id": "38221535", "url": "https://glygen.org/publication/PubMed/38221535" } ] }, { "annotation": "PER2 Promotes Odontoblastic/Osteogenic Differentiation of Dental Pulp Stem Cells by Modulating Mitochondrial Metabolism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" }, { "database": "PubMed", "id": "37445839", "url": "https://glygen.org/publication/PubMed/37445839" } ] }, { "annotation": "PER2 binding to HSP90 enhances immune response against oral squamous cell carcinoma by inhibiting IKK/NF-kappaB pathway and PD-L1 expression.", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" }, { "database": "PubMed", "id": "37914384", "url": "https://glygen.org/publication/PubMed/37914384" } ] }, { "annotation": "PER2 gene and its association with sleep-related disorders: A review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" }, { "database": "PubMed", "id": "37981094", "url": "https://glygen.org/publication/PubMed/37981094" } ] }, { "annotation": "This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" } ] }, { "annotation": "Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndrome and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. PER1 and PER2 proteins transport CRY1 and CRY2 into the nucleus with appropriate circadian timing, but also contribute directly to repression of clock-controlled target genes through interaction with several classes of RNA-binding proteins, helicases and others transcriptional repressors. PER appears to regulate circadian control of transcription by at least three different modes. First, interacts directly with the CLOCK-BMAL1 at the tail end of the nascent transcript peak to recruit complexes containing the SIN3-HDAC that remodel chromatin to repress transcription. Second, brings H3K9 methyltransferases such as SUV39H1 and SUV39H2 to the E-box elements of the circadian target genes, like PER2 itself or PER1. The recruitment of each repressive modifier to the DNA seems to be very precisely temporally orchestrated by the large PER complex, the deacetylases acting before than the methyltransferases. Additionally, large PER complexes are also recruited to the target genes 3' termination site through interactions with RNA-binding proteins and helicases that may play a role in transcription termination to regulate transcription independently of CLOCK-BMAL1 interactions. Recruitment of large PER complexes to the elongating polymerase at PER and CRY termination sites inhibited SETX action, impeding RNA polymerase II release and thereby repressing transcriptional reinitiation. May propagate clock information to metabolic pathways via the interaction with nuclear receptors. Coactivator of PPARA and corepressor of NR1D1, binds rhythmically at the promoter of nuclear receptors target genes like BMAL1 or G6PC1. Directly and specifically represses PPARG proadipogenic activity by blocking PPARG recruitment to target promoters and thereby inhibiting transcriptional activation. Required for fatty acid and lipid metabolism, is involved as well in the regulation of circulating insulin levels. Plays an important role in the maintenance of cardiovascular functions through the regulation of NO and vasodilatatory prostaglandins production in aortas. Controls circadian glutamate uptake in synaptic vesicles through the regulation of VGLUT1 expression. May also be involved in the regulation of inflammatory processes. Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1 and ATF4. Negatively regulates the formation of the TIMELESS-CRY1 complex by competing with TIMELESS for binding to CRY1.", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055#function" }, { "database": "UniProtKB", "id": "O54943", "url": "https://www.uniprot.org/uniprot/O54943#function" } ] } ], "disease": [ { "disease_id": "DOID:0050628", "recommended_name": { "id": "DOID:0050628", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050628", "name": "advanced sleep phase syndrome", "description": "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning." }, "synonyms": [ { "id": "DOID:0050628", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050628", "name": "familial advanced sleep-phase syndrome", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "advanced sleep phase syndrome 1", "description": "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene." }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "FASPS1", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "PER2 advanced sleep phase syndrome", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "advanced sleep phase syndrome caused by mutation in PER2", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "advanced sleep phase syndrome type 1", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "advanced sleep phase syndrome, familial, type 1", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "familial advanced sleep phase syndrome 1", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "advanced sleep phase syndrome, familial, 1", "description": "" }, { "id": "MIM:604348", "resource": "MIM", "url": "https://www.omim.org/entry/604348", "name": "Advanced sleep phase syndrome, familial, 1", "description": "Advanced sleep phase syndrome, familial, 1" } ], "evidence": [ { "id": "604348", "database": "MIM", "url": "https://www.omim.org/entry/604348" } ] }, { "disease_id": "DOID:0110011", "recommended_name": { "id": "DOID:0110011", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110011", "name": "advanced sleep phase syndrome 1", "description": "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37." }, "synonyms": [ { "id": "DOID:0110011", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110011", "name": "FASPS1", "description": "" }, { "id": "DOID:0110011", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110011", "name": "familial advanced sleep phase syndrome 1", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "advanced sleep phase syndrome 1", "description": "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene." }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "FASPS1", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "PER2 advanced sleep phase syndrome", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "advanced sleep phase syndrome caused by mutation in PER2", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "advanced sleep phase syndrome type 1", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "advanced sleep phase syndrome, familial, type 1", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "familial advanced sleep phase syndrome 1", "description": "" }, { "id": "MONDO:0011442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011442", "name": "advanced sleep phase syndrome, familial, 1", "description": "" }, { "id": "MIM:604348", "resource": "MIM", "url": "https://www.omim.org/entry/604348", "name": "Advanced sleep phase syndrome, familial, 1", "description": "Advanced sleep phase syndrome, familial, 1" } ], "evidence": [ { "id": "604348", "database": "MIM", "url": "https://www.omim.org/entry/604348" } ] } ], "snv": [ { "evidence": [ { "id": "rs1355444881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355444881" }, { "id": "rs1355444881", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355444881#frequency_tab" }, { "id": "rs1355444881", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355444881" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1085, "end_pos": 1085, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "2", "chr_pos": "238251620", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1085", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1195391394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195391394" }, { "id": "rs1195391394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195391394" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1095, "end_pos": 1095, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "2", "chr_pos": "238250735", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1095", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs951973056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs951973056" }, { "id": "rs951973056", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs951973056#frequency_tab" }, { "id": "rs951973056", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs951973056" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1097, "end_pos": 1097, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SHT->NHT).", "chr_id": "2", "chr_pos": "238250728", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1097", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1001193812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001193812" }, { "id": "rs1001193812", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1001193812#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1180, "end_pos": 1180, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "2", "chr_pos": "238249141", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15055", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15055" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 14, "end_pos": 14, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPT->NHT).", "chr_id": "2", "chr_pos": "238277896", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P14", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748333939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748333939" }, { "id": "rs748333939", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748333939" }, { "id": "rs748333939", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748333939" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 14, "end_pos": 14, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "2", "chr_pos": "238277896", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P14", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771880290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771880290" }, { "id": "rs771880290", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771880290" }, { "id": "rs771880290", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771880290" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 14, "end_pos": 14, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NST).", "chr_id": "2", "chr_pos": "238277897", "ref_nt": "A", "alt_nt": "null", 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"MNGYAEFPPSPSNPTKEPVEPQPSQVPLQEDVDMSSGSSGHETNENCSTGRDSQGSDCDDSGKELGMLVEPPDARQSPDTFSLMMAKSEHNPSTSGCSSDQSSKVDTHKELIKTLKELKVHLPADKKAKGKASTLATLKYALRSVKQVKANEEYYQLLMSSEGHPCGADVPSYTVEEMESVTSEHIVKNADMFAVAVSLVSGKILYISDQVASIFHCKRDAFSDAKFVEFLAPHDVGVFHSFTSPYKLPLWSMCSGADSFTQECMEEKSFFCRVSVRKSHENEIRYHPFRMTPYLVKVRDQQGAESQLCCLLLAERVHSGYEAPRIPPEKRIFTTTHTPNCLFQDVDERAVPLLGYLPQDLIETPVLVQLHPSDRPLMLAIHKKILQSGGQPFDYSPIRFRARNGEYITLDTSWSSFINPWSRKISFIIGRHKVRVGPLNEDVFAAHPCTEEKALHPSIQELTEQIHRLLLQPVPHSGSSGYGSLGSNGSHEHLMSQTSSSDSNGHEDSRRRRAEICKNGNKTKNRSHYSHESGEQKKKSVTEMQTNPPAEKKAVPAMEKDSLGVSFPEELACKNQPTCSYQQISCLDSVIRYLESCNEAATLKRKCEFPANVPALRSSDKRKATVSPGPHAGEAEPPSRVNSRTGVGTHLTSLALPGKAESVASLTSQCSYSSTIVHVGDKKPQPELEMVEDAASGPESLDCLAGPALACGLSQEKEPFKKLGLTKEVLAAHTQKEEQSFLQKFKEIRKLSIFQSHCHYYLQERSKGQPSERTAPGLRNTSGIDSPWKKTGKNRKLKSKRVKPRDSSESTGSGGPVSARPPLVGLNATAWSPSDTSQSSCPAVPFPAPVPAAYSLPVFPAPGTVAAPPAPPHASFTVPAVPVDLQHQFAVQPPPFPAPLAPVMAFMLPSYSFPSGTPNLPQAFFPSQPQFPSHPTLTSEMASASQPEFPSRTSIPRQPCACPATRATPPSAMGRASPPLFQSRSSSPLQLNLLQLEEAPEGGTGAMGTTGATETAAVGADCKPGTSRDQQPKAPLTRDEPSDTQNSDALSTSSGLLNLLLNEDLCSASGSAASESLGSGSLGCDASPSGAGSSDTSHTSKYFGSIDSSENNHKAKMNTGMEESEHFIKCVLQDPIWLLMADADSSVMMTYQLPSRNLEAVLKEDREKLKLLQKLQPRFTESQKQELREVHQWMQTGGLPAAIDVAECVYCENKEKGNICIPYEEDIPSLGLSEVSDTKEDENGSPLNHRIEEQT", "length": 1255, "header": "sp|O15055-1|PER2_HUMAN Isoform 1 of Period circadian protein homolog 2 OS=Homo sapiens OX=9606 GN=PER2 PE=1 SV=2 CANONICAL=O15055-1" }, "isoforms": [ { "isoform_ac": "E9PD89-1", "url": "", "sequence": { "sequence": "MNGYAEFPPSPSNPTKEPVEPQPSQVPLQEDVDMSSGSSGHETNENCSTGRDSQGSDCDDSGKELGMLVEPPDARQSPDTFSLMMAKSEHNPSTSGCSSDQSSKVDTHK", "length": 109, "header": "tr|E9PD89-1|E9PD89_HUMAN Computationally mapped isoform of Period circadian regulator 2 OS=Homo sapiens OX=9606 GN=PER2 PE=1 SV=1 CANONICAL=O15055-1" }, "locus": { "chromosome": "2", "start_pos": 238277936, "end_pos": 238275864, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000431832.1", "url": "https://www.ensembl.org/id/ENST00000431832.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000405891.1", "url": "https://www.ensembl.org/id/ENSP00000405891.1" } ] } }, { "isoform_ac": "O15055-1", "url": "", "sequence": { "sequence": 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"https://oglcnac.org/atlas/detail/O15055" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 965, "start_aa": "Thr", "end_pos": 965, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr965", "evidence": [ { "id": "O15055", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15055" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "23395175", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23395175" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "O15055", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15055" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": 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"end_pos": 665, "kinase_uniprot_canonical_ac": "P49674-1", "kinase_gene_name": "CSNK1E", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15055", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15055" }, { "database": "PubMed", "id": "17218255", "url": "https://glygen.org/publication/PubMed/17218255" } ], "site_lbl": "Ser665" }, { "start_pos": 668, "end_pos": 668, "kinase_uniprot_canonical_ac": "P49674-1", "kinase_gene_name": "CSNK1E", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15055", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15055" }, { "database": "PubMed", "id": "17218255", "url": "https://glygen.org/publication/PubMed/17218255" } ], "site_lbl": "Ser668" }, { "start_pos": 671, "end_pos": 671, "kinase_uniprot_canonical_ac": "P49674-1", "kinase_gene_name": "CSNK1E", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15055", "url": 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"Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "site_lbl": "Ser700" }, { "start_pos": 714, "end_pos": 714, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "site_lbl": "Ser714" }, { "start_pos": 766, "end_pos": 766, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "site_lbl": "Ser766" }, { "start_pos": 771, "end_pos": 771, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "site_lbl": "Ser771" }, { "start_pos": 945, 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"glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular cloning and characterization of the human CLOCK gene: expression in the suprachiasmatic nuclei.", "journal": "Genomics", "date": "1999", "authors": "Steeves TD, King DP, Zhao Y, Sangoram AM, Du F, Bowcock AM, Moore RY, Takahashi JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "10198158", "url": "https://glygen.org/publication/PubMed/10198158" } ] }, { "title": "Light-independent role of CRY1 and CRY2 in the mammalian circadian clock.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Griffin EA Jr, Staknis D, Weitz CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "10531061", "url": "https://glygen.org/publication/PubMed/10531061" } ] }, { 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Differentiation of Dental Pulp Stem Cells by Modulating Mitochondrial Metabolism.", "journal": "International journal of molecular sciences", "date": "2023-06-26", "authors": "Huang Wushuang, Huang Qi, He Hongwen, Huang Fang", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" } ], "reference": [ { "type": "PubMed", "id": "37445839", "url": "https://glygen.org/publication/PubMed/37445839" } ] }, { "title": "A Three-Way Interaction of Sex, PER2 rs56013859 Polymorphism, and Family Maltreatment in Depressive Symptoms in Adolescents.", "journal": "Genes", "date": "2023-08-29", "authors": "Torres Soler Catalina, Kanders Sofia H, Rehn Mattias, Olofsdotter Susanne, \u00c5slund Cecilia, Nilsson Kent W", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" } ], "reference": [ { "type": "PubMed", "id": "37761863", "url": "https://glygen.org/publication/PubMed/37761863" } ] }, { "title": "PER2 binding to HSP90 enhances immune response against oral squamous cell carcinoma by inhibiting IKK/NF-\u03baB pathway and PD-L1 expression.", "journal": "Journal for immunotherapy of cancer", "date": "2023-11", "authors": "Zhang Zhiwei, Sun Deping, Tang Hong, Ren Jie, Yin Shilin, Yang Kai", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" } ], "reference": [ { "type": "PubMed", "id": "37914384", "url": "https://glygen.org/publication/PubMed/37914384" } ] }, { "title": "PER2 gene and its association with sleep-related disorders: A review.", "journal": "Physiology & behavior", "date": "2024-01-01", "authors": "Pavithra S, Aich Adrija, Chanda Adrita, Zohra Ifsha Fatima, Gawade Pranotee, Das Raunak Kumar", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" } ], "reference": [ { "type": "PubMed", "id": "37981094", "url": "https://glygen.org/publication/PubMed/37981094" } ] }, { "title": "Importance of Per2 in cardiac mitochondrial protection during stress.", "journal": "Scientific reports", "date": "2024-01-14", "authors": "Bhaskara Meghana, Anjorin Olufisayo, Yoniles Arris, Liu Jianyun, Wang Meijing", "evidence": [ { "database": "RefSeq", "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728" } ], "reference": [ { "type": "PubMed", "id": "38221535", "url": "https://glygen.org/publication/PubMed/38221535" } ] }, { "title": "Isoform-specific amino-terminal domains dictate DNA-binding properties of ROR alpha, a novel family of orphan hormone nuclear receptors.", "journal": "Genes & development", "date": "1994", "authors": "Giguere V, Tini M, Flock G, Ong E, Evans RM, Otulakowski G", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "7926749", "url": 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"O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "negative regulation of transcription regulatory region DNA binding", "id": "GO:2000678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000678", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "regulation of glutamate uptake involved in transmission of nerve impulse", "id": "GO:0051946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051946", "evidence": [ { "database": "UniProtKB", "id": "O15055", "url": "https://www.uniprot.org/uniprot/O15055" } ], "pmid": "" }, { "name": "negative regulation of circadian rhythm", "id": "GO:0042754", "url": 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