PER2 period circadian regulator 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PER2provided by HGNC
Official Full Name: period circadian regulator 2provided by HGNC
Primary source: HGNC:HGNC:8846
See related: Ensembl:ENSG00000132326 MIM:603426; AllianceGenome:HGNC:8846
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FASPS; FASPS1
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]
Expression: Ubiquitous expression in testis (RPKM 8.7), gall bladder (RPKM 7.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (238244044..238300065, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (238733782..238779869, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (239152685..239197251, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders.
Title: Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders.
Hierarchical and scaffolded phosphorylation of two degrons controls PER2 stability.
Title: Hierarchical and scaffolded phosphorylation of two degrons controls PER2 stability.
Phosphorylation of DNA-binding domains of CLOCK-BMAL1 complex for PER-dependent inhibition in circadian clock of mammalian cells.
Title: Phosphorylation of DNA-binding domains of CLOCK-BMAL1 complex for PER-dependent inhibition in circadian clock of mammalian cells.
Transcription Repression of CRY2 via PER2 Interaction Promotes Adipogenesis.
Title: Transcription Repression of CRY2 via PER2 Interaction Promotes Adipogenesis.
Importance of Per2 in cardiac mitochondrial protection during stress.
Title: Importance of Per2 in cardiac mitochondrial protection during stress.
PER2 gene and its association with sleep-related disorders: A review.
Title: PER2 gene and its association with sleep-related disorders: A review.
PER2 binding to HSP90 enhances immune response against oral squamous cell carcinoma by inhibiting IKK/NF-kappaB pathway and PD-L1 expression.
Title: PER2 binding to HSP90 enhances immune response against oral squamous cell carcinoma by inhibiting IKK/NF-κB pathway and PD-L1 expression.
A Three-Way Interaction of Sex, PER2 rs56013859 Polymorphism, and Family Maltreatment in Depressive Symptoms in Adolescents.
Title: A Three-Way Interaction of Sex, PER2 rs56013859 Polymorphism, and Family Maltreatment in Depressive Symptoms in Adolescents.
PER2 Promotes Odontoblastic/Osteogenic Differentiation of Dental Pulp Stem Cells by Modulating Mitochondrial Metabolism.
Title: PER2 Promotes Odontoblastic/Osteogenic Differentiation of Dental Pulp Stem Cells by Modulating Mitochondrial Metabolism.
Insights into structure and activity relationship of clinically mutated PER1 and PER2 class A beta-lactamase enzymes.
Title: Insights into structure and activity relationship of clinically mutated PER1 and PER2 class A β-lactamase enzymes.

Submit: New GeneRIF Correction See all GeneRIFs (149)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Advanced sleep phase syndrome 1 MedGen: C3807327 OMIM: 604348 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

PER2_3226.2 (e-PCR)
- UniSTS:468105

SHGC-52384 (e-PCR)
- UniSTS:35984

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info
enables transcription corepressor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chromatin remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in circadian regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in circadian regulation of gene expression	NAS Non-traceable Author Statement more info	PubMed
involved_in circadian rhythm	TAS Traceable Author Statement more info	PubMed
involved_in entrainment of circadian clock by photoperiod	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in gluconeogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycogen biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in lactate biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of circadian rhythm	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of circadian rhythm	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of fat cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription regulatory region DNA binding	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural retina development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of circadian rhythm	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of glutamate uptake involved in transmission of nerve impulse	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of vasoconstriction	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to ischemia	ISS Inferred from Sequence or Structural Similarity more info
involved_in white fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of Cry-Per complex	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: period circadian protein homolog 2

Names: circadian clock protein PERIOD 2; hPER2; period 2; period circadian clock 2; period circadian protein 2; period homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012146.1 RefSeqGene

Range

4957..49523

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022817.3 → NP_073728.1 period circadian protein homolog 2

See identical proteins and their annotated locations for NP_073728.1

Status: REVIEWED

Source sequence(s)

AB002345, AC012485, DA226434

Consensus CDS

CCDS2528.1

UniProtKB/Swiss-Prot

A2I2P7, O15055, Q4ZG49, Q6DT41, Q9UQ45

UniProtKB/TrEMBL

B4DH14

Related

ENSP00000254657.3, ENST00000254657.8

Conserved Domains (3) summary

cd00130
Location:333 → 434

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08447
Location:346 → 430

PAS_3; PAS fold

pfam12114
Location:1046 → 1232

Period_C; Period protein 2/3C-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

238244044..238300065 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047446232.1 → XP_047302188.1 period circadian protein homolog 2 isoform X1

UniProtKB/Swiss-Prot

A2I2P7, O15055, Q4ZG49, Q6DT41, Q9UQ45
XM_047446231.1 → XP_047302187.1 period circadian protein homolog 2 isoform X1

UniProtKB/Swiss-Prot

A2I2P7, O15055, Q4ZG49, Q6DT41, Q9UQ45
XM_005246111.5 → XP_005246168.1 period circadian protein homolog 2 isoform X1

See identical proteins and their annotated locations for XP_005246168.1

UniProtKB/Swiss-Prot

A2I2P7, O15055, Q4ZG49, Q6DT41, Q9UQ45

UniProtKB/TrEMBL

B4DH14

Conserved Domains (3) summary

cd00130
Location:333 → 434

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08447
Location:346 → 430

PAS_3; PAS fold

pfam12114
Location:1046 → 1232

Period_C; Period protein 2/3C-terminal region
XM_006712824.5 → XP_006712887.1 period circadian protein homolog 2 isoform X1

See identical proteins and their annotated locations for XP_006712887.1

UniProtKB/Swiss-Prot

A2I2P7, O15055, Q4ZG49, Q6DT41, Q9UQ45

UniProtKB/TrEMBL

B4DH14

Related

ENSP00000516758.1, ENST00000707130.1

Conserved Domains (3) summary

cd00130
Location:333 → 434

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08447
Location:346 → 430

PAS_3; PAS fold

pfam12114
Location:1046 → 1232

Period_C; Period protein 2/3C-terminal region

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

238733782..238779869 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054344396.1 → XP_054200371.1 period circadian protein homolog 2 isoform X1

UniProtKB/Swiss-Prot

A2I2P7, O15055, Q4ZG49, Q6DT41, Q9UQ45
XM_054344395.1 → XP_054200370.1 period circadian protein homolog 2 isoform X1

UniProtKB/Swiss-Prot

A2I2P7, O15055, Q4ZG49, Q6DT41, Q9UQ45

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_003894.3: Suppressed sequence

Description

NM_003894.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.