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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 Parkinson Disease, Late-Onset. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include receptor binding and growth factor activity. An important paralog of this gene is ARTN.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for PSPN Gene

Genomics for PSPN Gene

GeneHancer (GH) Regulatory Elements for PSPN Gene

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
GH19I006377 Enhancer 0.3 ENCODE 550.8 +0.7 724 1.2 ZIC2 PSPN GTF2F1 SLC25A41 CLPP ALKBH7
GH19I006527 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.7 -151.6 -151586 6.2 YBX1 IRF4 E2F8 ZNF143 ZNF548 MCM3 SP3 MEF2D ZNF610 GLIS1 TNFSF9 ZNF557 KHSRP DUS3L SAFB2 SAFB SNRPEP4 ENSG00000267571 GTF2F1 RANBP3
GH19I007196 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -819.6 -819634 5 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF557 ELAVL1 XAB2 MAP2K7 KHSRP GTF2F1 ARHGEF18 PSPN GPR108 INSR
GH19I006270 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5 +103.7 103706 10.7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 MLLT1 DUS3L ZNF557 KHSRP SNRPEP4 SAFB ENSG00000267571 VMAC GPR108 RANBP3
GH19I005956 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 2.1 +415.8 415806 13.9 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 VMAC ENSG00000267571 CAPS DUS3L NDUFA11 GPR108 FUT5 ACSBG2 SAFB KDM4B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PSPN on UCSC Golden Path with GeneCards custom track

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

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)

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

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for PSPN Gene

GenScript: Design optimal peptide antigens:

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

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

Phenotypes From GWAS Catalog for PSPN Gene

Gene Ontology (GO) - Molecular Function for PSPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 receptor binding TAS 9491986
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with PSPN: view

Phenotypes for PSPN Gene

genes like me logo Genes that share phenotypes with PSPN: view

Animal Models for PSPN Gene

MGI Knock Outs for PSPN:

Animal Model Products

miRNA for PSPN Gene

miRTarBase miRNAs that target PSPN

Clone Products

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
mitochondrion 1
nucleus 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:0005622 intracellular IEA --
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

SuperPathway Contained pathways
1 RET signaling
2 GDNF-Family Ligands and Receptor Interactions
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 Qiagen pathway for PSPN Gene

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
GO:0010469 regulation of receptor activity IEA --
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 :
(2) Additional mRNA sequences :
(302) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PSPN Gene

Persephin:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for PSPN Gene

GeneLoc Exon Structure for
PSPN
ECgene alternative splicing isoforms for
PSPN

Expression for PSPN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for PSPN Gene



Protein tissue co-expression partners for PSPN Gene

NURSA nuclear receptor signaling pathways regulating expression of PSPN Gene:

PSPN

SOURCE GeneReport for Unigene cluster for PSPN Gene:

Hs.248159

Evidence on tissue expression from TISSUES for PSPN Gene

  • Nervous system(2.5)
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 33
  • 98.5 (n)
cow
(Bos Taurus)
Mammalia PSPN 33 34
  • 83.75 (n)
dog
(Canis familiaris)
Mammalia PSPN 33 34
  • 82 (n)
rat
(Rattus norvegicus)
Mammalia Pspn 33
  • 73.98 (n)
mouse
(Mus musculus)
Mammalia Pspn 33 16 34
  • 73.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PSPN 34
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSPN 34
  • 52 (a)
OneToOne
Species where no ortholog for PSPN 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)
  • 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 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)
  • 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)

Paralogs for PSPN Gene

Paralogs for PSPN Gene

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

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

Variants for PSPN Gene

Sequence variations from dbSNP and Humsavar for PSPN Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1001622519 -- 6,377,824(-) G/T upstream_transcript_variant
rs1002298396 -- 6,375,623(-) G/A intron_variant
rs1002576743 -- 6,376,677(-) C/T upstream_transcript_variant
rs1002585074 -- 6,376,931(-) G/A upstream_transcript_variant
rs1006466438 -- 6,375,352(-) C/G/T coding_sequence_variant, missense_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSPN Gene

Disorders for PSPN Gene

MalaCards: The human disease database

(2) MalaCards diseases for PSPN Gene - From: HGMD, DISEASES, and Novoseek

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
parkinson disease, late-onset
  • pd
- 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
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 22 44 58
  2. 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 22 58
  3. Persephin, a novel neurotrophic factor related to GDNF and neurturin. (PMID: 9491986) Milbrandt J … Johnson EM (Neuron 1998) 3 4 22 58
  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 22 58
  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 22 58

Products for PSPN Gene

Sources for PSPN Gene

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