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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 Immune System. GO annotations related to this gene include receptor binding and growth factor activity. An important paralog of this gene is NRTN.

UniProtKB/Swiss-Prot for PSPN Gene

  • Exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons.

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

Genomics for PSPN Gene

Regulatory Elements for PSPN Gene

Enhancers for PSPN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F006270 1.5 FANTOM5 ENCODE 5 +103.7 103706 10.7 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF557 SNRPEP4 SAFB ENSG00000267571 VMAC ACSBG2 LOC390877 MBD3L3 MBD3L5 FLJ25758
GH19F005956 1.6 FANTOM5 Ensembl ENCODE 2.1 +415.8 415806 13.9 PKNOX1 ARNT MLX ZFP64 SIN3A ARID4B FEZF1 DMAP1 ZNF2 YY1 VMAC CAPS NDUFA11 FUT5 ACSBG2 ENSG00000267571 MIR6791 FUT3 FUT6 SLC25A41
GH19F006582 1.6 FANTOM5 Ensembl ENCODE 1.4 -208.2 -208239 9.3 HDGF PKNOX1 ARNT WRNIP1 SIN3A YBX1 ZNF48 ZNF121 GLIS2 ZNF143 LOC390877 FLJ25758 MBD3L5 MBD3L3 ACSBG2 ALKBH7 ENSG00000267571 PRR22 CD70 RPL36
GH19F006085 1.6 FANTOM5 Ensembl ENCODE 1.1 +291.2 291190 3.9 HDGF PKNOX1 ARID4B FEZF1 GLI4 ZNF2 GTF3C2 ZNF766 FOS JUNB ZNF557 VMAC ENSG00000267571 SNRPEP4 SAFB RFX2 ACSBG2 SH2D3A FUT5 SAFB2
GH19F006377 0.6 ENCODE 0.8 +0.7 724 1.2 POLR2A TEAD4 ZBTB33 ZIC2 MAFK GTF2F1 SLC25A41 CLPP PSPN ALKBH7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PSPN on UCSC Golden Path with GeneCards custom track

Genomic Location for PSPN Gene

Chromosome:
19
Start:
6,375,148 bp from pter
End:
6,379,058 bp from pter
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

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.

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 IEA,TAS --
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with PSPN: view

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 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:0007417 central nervous system development TAS 9491986
GO:0043547 positive regulation of GTPase 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with PSPN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34
  • 98.5 (n)
cow
(Bos Taurus)
Mammalia PSPN 34 35
  • 83.75 (n)
dog
(Canis familiaris)
Mammalia PSPN 34 35
  • 82 (n)
rat
(Rattus norvegicus)
Mammalia Pspn 34
  • 73.98 (n)
mouse
(Mus musculus)
Mammalia Pspn 34 16 35
  • 73.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PSPN 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSPN 35
  • 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 Sequence Context AA Info Type
rs10401645 -- 6,376,003(+) TGCTC(A/C)TTCTG upstream-variant-2KB
rs10402574 -- 6,376,487(+) AGACC(C/T)CTATA upstream-variant-2KB
rs10408708 -- 6,377,549(+) taggc(C/G)aggca upstream-variant-2KB
rs10416892 -- 6,377,678(+) ctggg(C/T)gtagt upstream-variant-2KB
rs10421175 -- 6,374,802(+) GTTTC(C/T)TCCTG intron-variant, reference, missense

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)

Relevant External Links 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: DISEASES and Novoseek

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung's disease
parkinson disease, late-onset
  • parkinson disease
- elite association - COSMIC cancer census association via MalaCards
Search PSPN in MalaCards View complete list of genes associated with diseases

Relevant External Links for PSPN

Genetic Association Database (GAD)
PSPN
Human Genome Epidemiology (HuGE) Navigator
PSPN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSPN
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 R.M. … Borrego S. (J. Pediatr. Surg. 2008) 3 22 46 64
  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 B.P. … Slaugenhaupt S.A. (Cytogenet. Cell Genet. 1998) 2 3 22 64
  3. Persephin, a novel neurotrophic factor related to GDNF and neurturin. (PMID: 9491986) Milbrandt J. … Johnson E.M. (Neuron 1998) 3 4 22 64
  4. Persephin signaling through GFRalpha1: the potential for the treatment of Parkinson's disease. (PMID: 20350599) Sidorova Y.A. … Bespalov M.M. (Mol. Cell. Neurosci. 2010) 3 22 64
  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 Res. 2005) 3 22 64

Products for PSPN Gene

Sources for PSPN Gene

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