1. Gene
  2. NRTN - neurturin Gene

NRTN - neurturin Gene

中文名称:神经营养素

种属: Homo sapiens

同用名: NTN

基因 ID: 4902 | 基因类型: protein coding

关于 NRTN

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:5,805,067-5,828,324 (from NCBI)

This gene has 1 transcript (splice variant), 208 orthologues, 3 paralogues and is associated with 1 phenotype. Broad expression in kidney (RPKM 1.6), heart (RPKM 1.4) and 18 other tissues.

功能概要

该基因编码 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。已在患有先天性巨结肠症的家族中描述了神经营养因子突变。[RefSeq 提供,2016 年 8 月]

This gene encodes a secreted ligand of the 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. A Neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016]

NRTN 基因产物(1)

mRNA Protein Name
NM_004558.5 NP_004549.1 neurturin preproprotein
基因本体论
  • 分子功能
  • 生物过程
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
10829012 GOA
enables heparan sulfate binding IDA
IDA: 通过直接分析推断
29414779 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
29414779 GOA
acts upstream of or within neural crest cell migration IDA
IDA: 通过直接分析推断
15242795 GOA
acts upstream of or within neuron projection development IDA
IDA: 通过直接分析推断
15242795 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

NRTN 蛋白结构

TGF_beta

TGF_beta: Transforming growth factor beta like domain (101 - 196)

  • 0
  • 100
  • 197 a.a.
蛋白主名 其他名称

neurturin

prepro-neurturin

重组 NRTN 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71155 Neurturin Protein, Human Q99748 (A96-V197) ≥95%
HY-P700142AF Animal-Free Neurturin Protein, Human (His) Q99748 (A96-V197) ≥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

Megacolon

Dilatation Of Colon

Intestinal Obstruction

Inspissated Milk Syndrome

Milk Curd Syndrome

Parkinson Disease 8, Autosomal Dominant

Parkinson Disease 8

Autosomal Dominant Parkinson Disease 8

PARK8

Parkinson'S Disease 8

Autosomal Dominant Parkinson'S Disease 8

Parkinson Disease-8

Parkinson Disease, Type 8, Autosomal Dominant

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

Retinal Degeneration

Degeneration Of Retina

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

Constipation
Movement Disease

Movement Disorders

Movement Disorder

Aromatic L-Amino Acid Decarboxylase Deficiency

Aadc Deficiency

Dopa Decarboxylase Deficiency

Ddc Deficiency

Aromatic Amino Acid Decarboxylase Deficiency

Deficiency Of Aromatic-L-Amino-Acid Decarboxylase

AADCD

Aromatic-L-Amino-Acid Decarboxylase Deficiency

Aromatic L-Amino-Acid Decarboxylase Deficiency

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

Canavan Disease

Aspartoacylase Deficiency

Aminoacylase 2 Deficiency

Spongy Degeneration Of Central Nervous System

Aspa Deficiency

Acy2 Deficiency

Canavan-Van Bogaert-Bertrand Disease

Mild Canavan Disease

Asp Deficiency

Spongy Degeneration Of The Central Nervous System

Severe Canavan Disease

Von Bogaert-Bertrand Disease

Canavan'S Disease

Spongy Degeneration Of The Brain

Juvenile Canavan Disease

Infantile Canavan Disease

Neonatal Canavan Disease

CAND

Disease, Canavan

Canavan Disease, Juvenile

Canavan Disease, Infantile

Canavan Disease, Neonatal

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

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

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 NRTN MGD MGI:108417
Felis catus NRTN VGNC VGNC:102648
Rattus norvegicus NRTN RGD RGD:621494
Canis familiaris NRTN VGNC VGNC:43978
Bos taurus NRTN VGNC VGNC:32270
Others NRTN NCBI