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  2. PSPN - persephin Gene

PSPN - persephin Gene

中文名称:persephin

种属: Homo sapiens

同用名: PSP

基因 ID: 5623 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 GDNF (神经胶质细胞系衍生的神经营养因子) 亚家族和 TGF-β (转化生长因子-β) 蛋白质超家族的分泌配体。编码的前原蛋白经过蛋白水解处理以生成成熟蛋白。这种蛋白质通过 RET 受体酪氨酸激酶和 GPI 相关辅助受体发出信号,并促进神经元群的存活。这种蛋白质可能在细胞死亡、神经系统发育和功能中发挥作用。已在口腔鳞状细胞癌中观察到该基因表达升高。[RefSeq 提供,2016 年 8 月]

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 基因产物(1)

mRNA Protein Name
NM_004158.5 NP_004149.1 persephin preproprotein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables growth factor activity IDA
IDA: 通过直接分析推断
11116144 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glial cell-derived neurotrophic factor receptor signaling pathway IDA
IDA: 通过直接分析推断
11116144 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in extracellular space IDA
IDA: 通过直接分析推断
9491986 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PSPN 蛋白结构

TGF_beta

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

  • 0
  • 100
  • 156 a.a.
蛋白主名 其他名称

persephin

重组 PSPN 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71034 Persephin Protein, Human O60542 (A61-G156) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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