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PENK Gene(Protein Coding)

Proenkephalin

GCID:
GC08M056436
GIFtS:
46
Genes Participants
UDN Logo

Aliases for PENK Gene

Aliases for PENK Gene

  • Proenkephalin 2 3 5
  • Preproenkephalin 2 3
  • Proenkephalin-A 3
  • Enkephalin A 3
  • Peptide F 3
  • PENK-A 3
  • PE 3

External Ids for PENK Gene

Previous GeneCards Identifiers for PENK Gene

  • GC08M056526
  • GC08M057292
  • GC08M057072
  • GC08M057403
  • GC08M057516
  • GC08M052820
  • GC08M057349

Summaries for PENK Gene

Entrez Gene Summary for PENK Gene

  • This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are stored in synaptic vesicles, then released into the synapse where they bind to mu- and delta-opioid receptors to modulate the perception of pain. Other non-opioid cleavage products may function in distinct biological activities. [provided by RefSeq, Jul 2015]

GeneCards Summary for PENK Gene

PENK (Proenkephalin) is a Protein Coding gene. Diseases associated with PENK include Cannabis Dependence and Radiculopathy. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and PAK Pathway. Gene Ontology (GO) annotations related to this gene include neuropeptide hormone activity and opioid peptide activity. An important paralog of this gene is PDYN.

UniProtKB/Swiss-Prot for PENK Gene

  • Met- and Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress. PENK(114-133) and PENK(237-258) increase glutamate release in the striatum. PENK(114-133) decreases GABA concentration in the striatum.

Additional gene information for PENK Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PENK Gene

Genomics for PENK Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PENK Gene

Promoters and enhancers for PENK Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08I056447 Enhancer 0.7 FANTOM5 563.6 -1.4 -1379 0.5 CTCF ZNF654 RB1 MAX SIN3A REST ZNF48 RAD21 ZNF143 FOXP2 PENK SDR16C5 LOC101929415 SEPT10P1
GH08I056446 Promoter 0.7 EPDnew 550.8 +0.1 74 0.1 FOXP2 EZH2 LOC101929415 PENK
GH08I056445 Promoter 0.7 EPDnew 550.8 +0.8 765 0.1 REST EZH2 LOC101929415 PENK
GH08I055851 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 4.9 +593.9 593887 3.3 HDGF PKNOX1 ATF1 ARNT TCF12 POLR2B ZNF766 GATA2 E2F8 ATF7 LYN TGS1 TMEM68 PENK GC08P055855
GH08I055846 Enhancer 1.4 Ensembl ENCODE dbSUPER 4.7 +598.8 598809 2.1 HDGF PKNOX1 SMAD1 ATF1 ARNT SIN3A NCOA2 GTF3C2 TCF12 POLR2B LYN TGS1 TMEM68 PENK GC08P055855
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PENK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PENK gene promoter:

Genomic Locations for PENK Gene

Genomic Locations for PENK Gene
chr8:56,436,674-56,446,734
(GRCh38/hg38)
Size:
10,061 bases
Orientation:
Minus strand
chr8:57,349,233-57,359,293
(GRCh37/hg19)

Genomic View for PENK Gene

Genes around PENK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PENK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PENK Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PENK Gene

Proteins for PENK Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PENK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01210-PENK_HUMAN
    Recommended name:
    Proenkephalin-A
    Protein Accession:
    P01210
    Secondary Accessions:
    • B2RC23
    • Q6FHC6
    • Q6FHE6

    Protein attributes for PENK Gene

    Size:
    267 amino acids
    Molecular mass:
    30787 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PENK Gene

neXtProt entry for PENK Gene

Protein Expression for PENK Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PENK Gene

  • The N-terminal domain contains 6 conserved cysteines thought to be involved in disulfide bonding and/or processing.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PENK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PENK Gene

Domains & Families for PENK Gene

Gene Families for PENK Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for PENK Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PENK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01210

UniProtKB/Swiss-Prot:

PENK_HUMAN :
  • Belongs to the opioid neuropeptide precursor family.
Family:
  • Belongs to the opioid neuropeptide precursor family.
genes like me logo Genes that share domains with PENK: view

Function for PENK Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PENK Gene

GENATLAS Biochemistry:
pro-enkephalin
UniProtKB/Swiss-Prot Function:
Met- and Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress. PENK(114-133) and PENK(237-258) increase glutamate release in the striatum. PENK(114-133) decreases GABA concentration in the striatum.

Phenotypes From GWAS Catalog for PENK Gene

Gene Ontology (GO) - Molecular Function for PENK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001515 opioid peptide activity IEA --
GO:0005184 neuropeptide hormone activity TAS 7057924
GO:0031628 opioid receptor binding IBA --
genes like me logo Genes that share ontologies with PENK: view
genes like me logo Genes that share phenotypes with PENK: view

Animal Models for PENK Gene

MGI Knock Outs for PENK:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PENK Gene

Localization for PENK Gene

Subcellular locations from UniProtKB/Swiss-Prot for PENK Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PENK gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
nucleus 2
cytoskeleton 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PENK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane IBA --
GO:0030424 axon IEA --
GO:0030425 dendrite IBA --
genes like me logo Genes that share ontologies with PENK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PENK Gene

Pathways & Interactions for PENK Gene

genes like me logo Genes that share pathways with PENK: view

Gene Ontology (GO) - Biological Process for PENK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0001662 behavioral fear response IEA --
GO:0001666 response to hypoxia IEA --
GO:0001964 startle response IEA --
GO:0002118 aggressive behavior IEA --
genes like me logo Genes that share ontologies with PENK: view

No data available for SIGNOR curated interactions for PENK Gene

Drugs & Compounds for PENK Gene

Products:

  1. Drug

(24) Drugs for PENK Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for PENK Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PENK: view

Transcripts for PENK Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PENK Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(103) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PENK Gene

Proenkephalin:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PENK Gene

No ASD Table

Relevant External Links for PENK Gene

GeneLoc Exon Structure for
PENK
ECgene alternative splicing isoforms for
PENK

Expression for PENK Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PENK Gene

mRNA expression in normal human tissues for PENK Gene
mRNA expression by GTEx for PENK GenemRNA expression by BioGPS for PENK Gene

mRNA differential expression in normal tissues according to GTEx for PENK Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x14.6), Brain - Nucleus accumbens (basal ganglia) (x14.0), and Brain - Caudate (basal ganglia) (x11.1).

Protein differential expression in normal tissues from HIPED for PENK Gene

This gene is overexpressed in Cerebrospinal fluid (48.3) and Urine (16.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PENK Gene



NURSA nuclear receptor signaling pathways regulating expression of PENK Gene:

PENK

SOURCE GeneReport for Unigene cluster for PENK Gene:

Hs.339831

Evidence on tissue expression from TISSUES for PENK Gene

  • Nervous system(4.9)
  • Adrenal gland(3.8)
  • Muscle(2)
genes like me logo Genes that share expression patterns with PENK: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PENK Gene

Orthologs for PENK Gene

This gene was present in the common ancestor of chordates.

Orthologs for PENK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PENK 33 34
  • 99.63 (n)
dog
(Canis familiaris)
 Mammalia PENK 33 34
  • 86.47 (n)
cow
(Bos Taurus)
 Mammalia PENK 33 34
  • 86.06 (n)
rat
(Rattus norvegicus)
 Mammalia Penk 33
  • 83.33 (n)
mouse
(Mus musculus)
 Mammalia Penk 33 16 34
  • 82.9 (n)
oppossum
(Monodelphis domestica)
 Mammalia PENK 34
  • 76 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PENK 34
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PENK 33 34
  • 75.65 (n)
lizard
(Anolis carolinensis)
 Reptilia PENK 34
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia penk 33
  • 66.67 (n)
zebrafish
(Danio rerio)
 Actinopterygii penka 33 34
  • 63.16 (n)
penkb 34
  • 37 (a)
 OneToMany
penk 33
Species where no ortholog for PENK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PENK Gene

ENSEMBL:
Gene Tree for PENK (if available)
TreeFam:
Gene Tree for PENK (if available)

Paralogs for PENK Gene

Paralogs for PENK Gene

(1) SIMAP similar genes for PENK Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PENK: view

Variants for PENK Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for PENK Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000318875 -- 56,442,574(-) G/A intron_variant
rs1000405758 -- 56,441,531(-) A/G coding_sequence_variant, missense_variant
rs1000740966 -- 56,444,027(-) A/G intron_variant
rs1001361768 -- 56,443,708(-) C/T intron_variant
rs1001479172 -- 56,447,061(-) C/T upstream_transcript_variant

Variation tolerance for PENK Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.50; 43.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PENK Gene

Human Gene Mutation Database (HGMD)
PENK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PENK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PENK Gene

Disorders for PENK Gene

MalaCards: The human disease database

(7) MalaCards diseases for PENK Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cannabis dependence
  • marijuana abuse
radiculopathy
  • nerve root disorder
hallucinogen dependence
bone cancer
  • bone neoplasm
drug dependence
- elite association - COSMIC cancer census association via MalaCards
Search PENK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PENK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PENK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PENK Gene

Publications for PENK Gene

  1. Opioid neuropeptide genotypes in relation to heroin abuse: dopamine tone contributes to reversed mesolimbic proenkephalin expression. (PMID: 18184800) Nikoshkov A … Hurd YL (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 22 44 58
  2. The opioid system in alcohol and drug dependence: family-based association study. (PMID: 17503481) Xuei X … Edenberg HJ (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 22 44 58
  3. Isolation and structural organization of the human preproenkephalin gene. (PMID: 6281660) Noda M … Numa S (Nature 1982) 2 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 44 58

Products for PENK Gene

Sources for PENK Gene

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