PSPN - persephin Gene

Also Known as PSP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5623

About PSPN

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:6,375,148-6,375,933 (from NCBI)

This gene has 2 transcripts (splice variants), 175 orthologues and 3 paralogues. Low expression observed in reference dataset.

Summary

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]

PSPN Products (1)

mRNA Protein Name
NM_004158.5 NP_004149.1 persephin preproprotein
Molecular Function GO Annotation Evidence References Source
enables growth factor activity IDA
IDA: Inferred from direct assay
11116144 GOA
Biological Process GO Annotation Evidence References Source
involved in glial cell-derived neurotrophic factor receptor signaling pathway IDA
IDA: Inferred from direct assay
11116144 GOA
Cellular Component GO Annotation Evidence References Source
is active in extracellular space IDA
IDA: Inferred from direct assay
9491986 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PSPN Protein Structure

TGF_beta

TGF_beta: Transforming growth factor beta like domain (64 - 154)

  • 0
  • 100
  • 156 a.a.
Protein Preferred Names Protein Names

persephin

Recombinant PSPN Proteins

Cat. No. Product Name Accession Purity
HY-P71034 Persephin Protein, Human O60542 (A61-G156) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Hirschsprung Disease 1
  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon

Multiple Endocrine Neoplasia, Type Iib
  • Multiple Endocrine Neoplasia Type 2b

  • MEN2B

  • Wagenmann-Froboese Syndrome

  • Multiple Endocrine Neoplasia Iib

  • Mucosal Neuroma Syndrome

  • Multiple Endocrine Neoplasia, Type 3

  • Multiple Endocrine Neoplasia, Type 2b

  • Men Iib

  • Neuromata, Mucosal, With Endocrine Tumors

  • Multiple Endocrine Neoplasia, Type Iii, Formerly

  • Men3, Formerly

  • Men Type Iib

  • Men 2b

  • Multiple Endocrine Neoplasia Type 3

  • Multiple Neoplasia 2b

  • Neoplasia, Endocrine, Multiple, Type Iib

Multiple Endocrine Neoplasia, Type Iia
  • Multiple Endocrine Neoplasia Type 2a

  • Sipple Syndrome

  • Multiple Endocrine Neoplasia Type 2

  • MEN2A

  • Men2

  • Ptc Syndrome

  • Multiple Endocrine Neoplasia, Type 2

  • Multiple Endocrine Neoplasia Iia

  • Men 2a

  • Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma

  • Multiple Endocrine Neoplasia, Type 2a

  • Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma

  • Multiple Endocrine Neoplasia Ii

  • Men2 Syndrome

  • Men-2a Syndrome

  • Multiple Neoplasia 2a

  • Multiple Neoplasia Type 2

Megacolon
  • Dilatation Of Colon

Thyroid Gland Cancer
  • Thyroid Gland Carcinoma

  • Malignant Neoplasm Of Thyroid Gland

  • Malignant Tumour Of Thyroid Gland

  • Thyroid Neoplasm

  • Thyroid Neoplasms

  • Neoplasm Of Thyroid Gland

  • Thyroid Gland Neoplasm

  • Head And Neck Cancer, Thyroid

  • Neoplasm Of The Thyroid Gland

  • Cancer Of The Thyroid

  • Primary Malignant Neoplasm Of Thyroglossal Duct

  • Malignant Neoplasm Of Thyroglossal Duct

  • Primary Malignant Neoplasm Of Thyroid Gland

  • Thyroglossal Duct Cancer

  • Toxic Goitre Malignant Tumour

  • Cancerous Goitre

Thyroid Carcinoma, Familial Medullary
  • Medullary Thyroid Carcinoma

  • Familial Medullary Thyroid Carcinoma

  • MTC

  • Medullary Thyroid Cancer

  • Fmtc

  • Mtc1

  • Thyroid Cancer, Medullary

  • Thyroid Carcinoma, Medullary

  • Familial Mtc

  • Thyroid Carcinoma Medullary

  • Carcinoma, Thyroid, Medullary, Familial

  • Medullary Carcinoma Of Thyroid

  • Medullary Carcinoma With Amyloid Stroma, Unspecified Site

  • Medullary Carcinoma With Amyloid Stroma Of Thyroid

Oral Squamous Cell Carcinoma
  • Mouth Squamous Cell Carcinoma

  • Squamous Cell Carcinoma Of Mouth

Thyroid Gland Medullary Carcinoma
  • Medullary Thyroid Carcinoma

  • Medullary Carcinoma Of The Thyroid Gland

  • Ultimobranchial Thyroid Tumor

  • Ultimobranchial Thyroid Tumour

  • Thyroid Cancer, Medullary

Congenital Central Hypoventilation Syndrome
  • Cchs

  • Haddad Syndrome

  • Ondine Curse

  • Ondine Syndrome

  • Congenital Central Hypoventilation

  • Congenital Central Alveolar Hypoventilation Syndrome

  • Congenital Failure Of Autonomic Control

  • Ondine'S Curse

  • Primary Alveolar Hypoventilation

  • Ondine-Hirschsprung Disease

  • Central Congenital Hypoventilation Syndrome

  • Congenital Ondine Curse

  • Idiopathic Congenital Central Alveolar Hypoventilation

  • Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

  • Ondine-Hirschsprung Syndrome

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus PSPN MGD MGI:1201684
Rattus norvegicus PSPN RGD RGD:3432
Bos taurus PSPN VGNC VGNC:52869
Felis catus PSPN VGNC VGNC:102668
Canis familiaris PSPN VGNC VGNC:49950
Others PSPN NCBI