This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of n... See more...

Aliases for PSPN Gene

Aliases for PSPN Gene

External Ids for PSPN Gene

Previous GeneCards Identifiers for PSPN Gene

  • GC19M006469
  • GC19M006315
  • GC19M006326
  • GC19M006135

Summaries for PSPN Gene

Entrez Gene Summary for PSPN Gene

  • This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma. [provided by RefSeq, Aug 2016]

GeneCards Summary for PSPN Gene

PSPN (Persephin) is a Protein Coding gene. Diseases associated with PSPN include Hirschsprung Disease 1 and Multiple Endocrine Neoplasia, Type Iib. Among its related pathways are GDNF-Family Ligands and Receptor Interactions and RET signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and growth factor activity. An important paralog of this gene is ARTN.

UniProtKB/Swiss-Prot Summary for PSPN Gene

  • Exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons.

Additional gene information for PSPN Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSPN Gene

Genomics for PSPN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PSPN 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
GH19J006377 Enhancer 0.6 Ensembl ENCODE 600.7 +0.7 724 1.2 TEAD4 ZIC2 POLR2A MAFK PSPN GTF2F1 SLC25A41 CLPP ALKBH7
GH19J006527 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -152.1 -152076 7.1 RNF2 ARHGAP35 SP1 HNRNPL ZNF629 TFE3 ZNF512 LEF1 SOX13 IKZF1 TNFSF9 lnc-TUBB4A-2 ZNF557 KHSRP DUS3L SAFB2 SAFB SNRPEP4 GTF2F1 RANBP3
GH19J007196 Promoter/Enhancer 2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 10.6 -819.6 -819634 5 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 IKZF1 ZNF557 XAB2 MAP2K7 KHSRP ELAVL1 GTF2F1 ARHGEF18 PSPN GPR108 INSR
GH19J006270 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5 +103.7 103718 10.7 SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 REST TFE3 LEF1 IKZF1 MLLT1 DUS3L KHSRP ZNF557 SNRPEP4 SAFB ENSG00000267571 VMAC GPR108 RANBP3
GH19J005956 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 2.1 +415.8 415806 13.9 HNRNPL GATAD2A CTCF ZBTB33 ZNF629 PRDM10 TFE3 ZNF512 IKZF1 NFKBIZ VMAC ENSG00000267571 CAPS DUS3L NDUFA11 GPR108 FUT5 ACSBG2 SAFB KDM4B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSPN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSPN

Top Transcription factor binding sites by QIAGEN in the PSPN gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alpha isoform 3
  • MyoD
  • NRF-2
  • NRSF form 1
  • NRSF form 2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for PSPN Gene

Genomic Locations for PSPN Gene
chr19:6,375,148-6,379,058
(GRCh38/hg38)
Size:
3,911 bases
Orientation:
Minus strand
chr19:6,375,159-6,379,069
(GRCh37/hg19)
Size:
3,911 bases
Orientation:
Minus strand

Genomic View for PSPN Gene

Genes around PSPN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PSPN Gene

Proteins for PSPN Gene

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

    Protein Symbol:
    O60542-PSPN_HUMAN
    Recommended name:
    Persephin
    Protein Accession:
    O60542

    Protein attributes for PSPN Gene

    Size:
    156 amino acids
    Molecular mass:
    16600 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

neXtProt entry for PSPN Gene

Post-translational modifications for PSPN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PSPN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PSPN Gene

Domains & Families for PSPN Gene

Gene Families for PSPN Gene

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

Protein Domains for PSPN Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature
ProtoNet:

Suggested Antigen Peptide Sequences for PSPN Gene

GenScript: Design optimal peptide antigens:
  • Persephin (PSPN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60542

UniProtKB/Swiss-Prot:

PSPN_HUMAN :
  • Belongs to the TGF-beta family. GDNF subfamily.
Family:
  • Belongs to the TGF-beta family. GDNF subfamily.
genes like me logo Genes that share domains with PSPN: view

Function for PSPN Gene

Molecular function for PSPN Gene

UniProtKB/Swiss-Prot Function:
Exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons.
GENATLAS Biochemistry:
persephin,neurotrophic factor,related to GDNF and neurturin,involved in the survival of several neuronal cell types from the central nervous system

Phenotypes From GWAS Catalog for PSPN Gene

Gene Ontology (GO) - Molecular Function for PSPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding TAS 9491986
GO:0008083 growth factor activity IBA 21873635
genes like me logo Genes that share ontologies with PSPN: view
genes like me logo Genes that share phenotypes with PSPN: view

Animal Models for PSPN Gene

MGI Knock Outs for PSPN:

Animal Model Products

CRISPR Products

miRNA for PSPN Gene

miRTarBase miRNAs that target PSPN

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSPN

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

Localization for PSPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSPN 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 PSPN gene
Compartment Confidence
extracellular 5
plasma membrane 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PSPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with PSPN: view

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

Pathways & Interactions for PSPN Gene

PathCards logo

SuperPathways for PSPN Gene

SuperPathway Contained pathways
1 RET signaling
2 GDNF-Family Ligands and Receptor Interactions
.41
.41
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 Innate Immune System
genes like me logo Genes that share pathways with PSPN: view

Pathways by source for PSPN Gene

1 GeneGo (Thomson Reuters) pathway for PSPN Gene
  • Development GDNF family signaling
1 Qiagen pathway for PSPN Gene
  • GDNF-Family Ligands and Receptor Interactions

SIGNOR curated interactions for PSPN Gene

Activates:

Gene Ontology (GO) - Biological Process for PSPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007399 nervous system development TAS 9491986
GO:0007411 axon guidance TAS --
GO:0007417 central nervous system development TAS 9491986
genes like me logo Genes that share ontologies with PSPN: view

Drugs & Compounds for PSPN Gene

(2) Drugs for PSPN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PSPN Gene - From: Novoseek

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

Transcripts for PSPN Gene

mRNA/cDNA for PSPN Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSPN

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

No ASD Table

Relevant External Links for PSPN Gene

GeneLoc Exon Structure for
PSPN

Expression for PSPN Gene

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

Protein differential expression in normal tissues from HIPED for PSPN Gene

This gene is overexpressed in Testis (69.0).

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



Protein tissue co-expression partners for PSPN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSPN

SOURCE GeneReport for Unigene cluster for PSPN Gene:

Hs.248159

Evidence on tissue expression from TISSUES for PSPN Gene

  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with PSPN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSPN Gene

Orthologs for PSPN Gene

This gene was present in the common ancestor of chordates.

Orthologs for PSPN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PSPN 30
  • 98.5 (n)
Cow
(Bos Taurus)
Mammalia PSPN 30 31
  • 83.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PSPN 30 31
  • 82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pspn 30
  • 73.98 (n)
Mouse
(Mus musculus)
Mammalia Pspn 30 17 31
  • 73.76 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PSPN 31
  • 61 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PSPN 31
  • 52 (a)
OneToOne
Species where no ortholog for PSPN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for PSPN Gene

ENSEMBL:
Gene Tree for PSPN (if available)
TreeFam:
Gene Tree for PSPN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSPN: view image

Paralogs for PSPN Gene

Paralogs for PSPN Gene

(2) SIMAP similar genes for PSPN Gene using alignment to 2 proteins:

  • PSPN_HUMAN
  • M0QYK2_HUMAN
genes like me logo Genes that share paralogs with PSPN: view

Variants for PSPN Gene

Additional dbSNP identifiers (rs#s) for PSPN Gene

Structural Variations from Database of Genomic Variants (DGV) for PSPN Gene

Variant ID Type Subtype PubMed ID
nsv513757 CNV insertion 21212237

Variation tolerance for PSPN Gene

Gene Damage Index Score: 2.22; 39.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSPN Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSPN Gene

Disorders for PSPN Gene

MalaCards: The human disease database

(7) MalaCards diseases for PSPN Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
multiple endocrine neoplasia, type iib
  • men2b
megacolon
  • dilatation of colon
multiple endocrine neoplasia, type iia
  • men2a
thyroid gland cancer
  • malignant neoplasm of thyroid gland
- elite association - COSMIC cancer census association via MalaCards
Search PSPN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PSPN

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

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

Publications for PSPN Gene

  1. Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease. (PMID: 18970938) Fernandez RM … Borrego S (Journal of pediatric surgery 2008) 3 23 41
  2. Persephin, a novel neurotrophic factor related to GDNF and neurturin. (PMID: 9491986) Milbrandt J … Johnson EM (Neuron 1998) 3 4 23
  3. Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR. (PMID: 10072588) Chadwick BP … Slaugenhaupt SA (Cytogenetics and cell genetics 1998) 2 3 23
  4. Persephin signaling through GFRalpha1: the potential for the treatment of Parkinson's disease. (PMID: 20350599) Sidorova YA … Bespalov MM (Molecular and cellular neurosciences 2010) 3 23
  5. Neurturin, persephin, and artemin in the human pre- and full-term newborn and adult hippocampus and fascia dentata. (PMID: 15829225) Quartu M … Del Fiacco M (Brain research 2005) 3 23

Products for PSPN Gene

Sources for PSPN Gene