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Aliases for PSPN Gene

Aliases for PSPN Gene

  • Persephin 2 3 5
  • PSP 3 4

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

  • The protein encoded by this gene is a neurotrophic factor, belonging to the GDNF family. Neurotrophic factors are important for the proper development and maintenance of the nervous system. These factors promote neuronal survival and can prevent the neuronal degeneration associated with injury, toxin exposure, or neurodegenerative disease. The encoded protein has amino acid similarity to its other family members, glial cell line-derived neurotrophic factor and neurturin. This gene product promotes the survival of ventral midbrain dopaminergic neurons in culture and prevents their degeneration after 6-hydroxydopamine treatment in vivo. [provided by RefSeq, Jul 2008]

GeneCards Summary for PSPN Gene

PSPN (Persephin) is a Protein Coding gene. Diseases associated with PSPN include hirschsprung disease 1 and colonic disease. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include receptor binding and growth factor activity. An important paralog of this gene is GDNF.

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

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

Proteomics data for PSPN Gene at MOPED

Post-translational modifications for PSPN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PSPN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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 --
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

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
Jensen Localization Image for PSPN Gene COMPARTMENTS Subcellular localization image for PSPN gene
Compartment Confidence
extracellular 5
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for PSPN Gene

Pathways & Interactions for PSPN Gene

SuperPathways for PSPN Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Signaling by GPCR
3 Immune System
4 Developmental Biology
5 GDNF-Family Ligands and Receptor Interactions
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
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
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:

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 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



SOURCE GeneReport for Unigene cluster for PSPN Gene Hs.248159

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

Protein tissue co-expression partners for PSPN Gene

Primer Products

In Situ Assay 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 35
  • 98.5 (n)
  • 97.44 (a)
cow
(Bos Taurus)
Mammalia PSPN 35
  • 83.75 (n)
  • 81.82 (a)
PSPN 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSPN 36
  • 71 (a)
OneToOne
PSPN 35
  • 82 (n)
  • 76.67 (a)
mouse
(Mus musculus)
Mammalia Pspn 16
Pspn 36
  • 58 (a)
OneToOne
Pspn 35
  • 73.76 (n)
  • 64.52 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia PSPN 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pspn 35
  • 73.98 (n)
  • 67.1 (a)
lizard
(Anolis carolinensis)
Reptilia PSPN 36
  • 52 (a)
OneToOne
Species with no ortholog for PSPN:
  • 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
rs7247913 -- 6,377,413(+) CTggc(A/C/G)gggcc upstream-variant-2KB
rs10408708 -- 6,377,549(+) taggc(C/G)aggca upstream-variant-2KB
rs55934673 -- 6,377,494(+) TGAGA(C/T)CAGCC upstream-variant-2KB
rs76061597 -- 6,376,823(+) TCACA(C/T)ACAAC upstream-variant-2KB
rs75415457 -- 6,376,063(+) CACCC(C/T)GACAT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv910911 CNV Loss 21882294
dgv3698n71 CNV Loss 21882294
nsv910916 CNV Loss 21882294
dgv3699n71 CNV Loss 21882294
dgv3700n71 CNV Loss 21882294
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

HapMap Linkage Disequilibrium report
PSPN
Human Gene Mutation Database (HGMD)
PSPN

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

Disorders for PSPN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung's disease
colonic disease
  • colon disorder
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. Persephin, a novel neurotrophic factor related to GDNF and neurturin. (PMID: 9491986) Milbrandt J. … Johnson E.M. (Neuron 1998) 3 4 23 67
  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 23
  3. 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 23
  4. 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 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 Res. 2005) 3 23

Products for PSPN Gene

Sources for PSPN Gene

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