Seroatlas · Human Serome Atlas

PER2

Period circadian protein homolog 2

Also known as: KIAA0347, PER2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O15055
Gene: PER2
Ensembl: ENSG00000132326
Chromosome: 2
Canonical length: 1255 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1255 residues, UniProt reviewed canonical sequence.

>O15055|PER2
     1  MNGYAEFPPS PSNPTKEPVE PQPSQVPLQE DVDMSSGSSG HETNENCSTG RDSQGSDCDD
    61  SGKELGMLVE PPDARQSPDT FSLMMAKSEH NPSTSGCSSD QSSKVDTHKE LIKTLKELKV
   121  HLPADKKAKG KASTLATLKY ALRSVKQVKA NEEYYQLLMS SEGHPCGADV PSYTVEEMES
   181  VTSEHIVKNA DMFAVAVSLV SGKILYISDQ VASIFHCKRD AFSDAKFVEF LAPHDVGVFH
   241  SFTSPYKLPL WSMCSGADSF TQECMEEKSF FCRVSVRKSH ENEIRYHPFR MTPYLVKVRD
   301  QQGAESQLCC LLLAERVHSG YEAPRIPPEK RIFTTTHTPN CLFQDVDERA VPLLGYLPQD
   361  LIETPVLVQL HPSDRPLMLA IHKKILQSGG QPFDYSPIRF RARNGEYITL DTSWSSFINP
   421  WSRKISFIIG RHKVRVGPLN EDVFAAHPCT EEKALHPSIQ ELTEQIHRLL LQPVPHSGSS
   481  GYGSLGSNGS HEHLMSQTSS SDSNGHEDSR RRRAEICKNG NKTKNRSHYS HESGEQKKKS
   541  VTEMQTNPPA EKKAVPAMEK DSLGVSFPEE LACKNQPTCS YQQISCLDSV IRYLESCNEA
   601  ATLKRKCEFP ANVPALRSSD KRKATVSPGP HAGEAEPPSR VNSRTGVGTH LTSLALPGKA
   661  ESVASLTSQC SYSSTIVHVG DKKPQPELEM VEDAASGPES LDCLAGPALA CGLSQEKEPF
   721  KKLGLTKEVL AAHTQKEEQS FLQKFKEIRK LSIFQSHCHY YLQERSKGQP SERTAPGLRN
   781  TSGIDSPWKK TGKNRKLKSK RVKPRDSSES TGSGGPVSAR PPLVGLNATA WSPSDTSQSS
   841  CPAVPFPAPV PAAYSLPVFP APGTVAAPPA PPHASFTVPA VPVDLQHQFA VQPPPFPAPL
   901  APVMAFMLPS YSFPSGTPNL PQAFFPSQPQ FPSHPTLTSE MASASQPEFP SRTSIPRQPC
   961  ACPATRATPP SAMGRASPPL FQSRSSSPLQ LNLLQLEEAP EGGTGAMGTT GATETAAVGA
  1021  DCKPGTSRDQ QPKAPLTRDE PSDTQNSDAL STSSGLLNLL LNEDLCSASG SAASESLGSG
  1081  SLGCDASPSG AGSSDTSHTS KYFGSIDSSE NNHKAKMNTG MEESEHFIKC VLQDPIWLLM
  1141  ADADSSVMMT YQLPSRNLEA VLKEDREKLK LLQKLQPRFT ESQKQELREV HQWMQTGGLP
  1201  AAIDVAECVY CENKEKGNIC IPYEEDIPSL GLSEVSDTKE DENGSPLNHR IEEQT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PER2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.57
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

skin: 16 nTPM
pancreas: 14 nTPM
salivary gland: 14 nTPM
breast: 14 nTPM
esophagus: 13 nTPM
stomach: 13 nTPM

Single-cell type

respiratory basal cells: 338 nCPM
salivary basal cells: 290 nCPM
respiratory secretory cells: 283 nCPM
salivary myoepithelial cells: 278 nCPM
salivary acinar cells: 232 nCPM
submucosal glandular cells: 187 nCPM

Immune cell

intermediate monocyte: 2.2 nTPM
basophil: 2.1 nTPM
non-classical monocyte: 2.1 nTPM
plasmacytoid DC: 1.8 nTPM
MAIT T-cell: 1.6 nTPM
memory CD4 T-cell: 1.6 nTPM

Brain region

cerebellum: 20 nTPM
midbrain: 17 nTPM
cerebral cortex: 17 nTPM
hippocampal formation: 17 nTPM
spinal cord: 17 nTPM
medulla oblongata: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PER2.

Disease | AllUniProt

Conditions PER2 is implicated in, by any mechanism.

Advanced sleep phase syndrome, familial, 1 (FASPS1) MIM:604348

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 247 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Advanced sleep phase syndrome 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.35
gnomAD pLI: 0.71
gnomAD missense Z: 0.43
DepMap mean gene effect: -0.14
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PER2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PER2 as an antibody target. Whether an autoantibody or antibody against PER2 could matter depends on whether native PER2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PER2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PER2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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