NTF3 neurotrophin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NTF3provided by HGNC
Official Full Name: neurotrophin 3provided by HGNC
Primary source: HGNC:HGNC:8023
See related: Ensembl:ENSG00000185652 MIM:162660
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NT3; HDNF; NGF2; NT-3; NGF-2
Summary: The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. [provided by RefSeq, Jul 2008]
Expression: Broad expression in ovary (RPKM 4.8), spleen (RPKM 2.1) and 19 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 12p13.31

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	12	NC_000012.12 (5432114..5495299)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (5541280..5604465)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NTF3 is a novel target gene of POU3F2 and that the POU3F2/NTF3 pathway plays a role in the process of neuronal differentiation.
Title: NTF3 Is a Novel Target Gene of the Transcription Factor POU3F2 and Is Required for Neuronal Differentiation.
brain-derived neurotrophic factor (BDNF) and neurotrophin 3 (NT3) levels in post-mortem brain tissue from patients with depression compared to healthy individuals - a proof of concept study
Title: Brain-derived neurotrophic factor (BDNF) and neurotrophin 3 (NT3) levels in post-mortem brain tissue from patients with depression compared to healthy individuals - a proof of concept study.
NT-3 has been shown to be both an osteogenic and angiogenic factor, and can also enhance expression of the key osteogenic factor, BMP-2, as well as the major angiogenic factor, VEGF, to promote bone formation, vascularization, and bone healing
Title: Roles of neurotrophins in skeletal tissue formation and healing.
High expression of NT-3 is associated with glioblastoma.
Title: Autophagy and TrkC/NT-3 signaling joined forces boost the hypoxic glioblastoma cell survival.
Meta-analysis found the levels of both NT-3 and NT-4/5 were significantly increased in bipolar disorder patients. Through subgroup analysis, this increase persisted only in patients in depressed state, but not in manic or euthymic state. In addition, we found the differences in NT-3 and NT-4/5 were significantly associated with the duration of illness, but not by the mean age or female proportion.
Title: State-dependent increase in the levels of neurotrophin-3 and neurotrophin-4/5 in patients with bipolar disorder: A meta-analysis.
NT3 upregulates cellular proliferation, extracellular matrix protein production, and collagen deposition in human aortic valve interstitial cells through the Trk-Akt-cyclin D1 cascade.
Title: Neurotrophin 3 upregulates proliferation and collagen production in human aortic valve interstitial cells: a potential role in aortic valve sclerosis.
The analysis of covariance (ANCOVA) indicated that the mean serum GDNF and NTF3 levels of ADHD patients were significantly higher than that of controls. However, serum BDNF and NGF levels did not show any significant differences between groups. These results suggest that elevated serum GDNF and NTF3 levels may be related to ADHD in children.
Title: Serum brain-derived neurotrophic factor, glial-derived neurotrophic factor, nerve growth factor, and neurotrophin-3 levels in children with attention-deficit/hyperactivity disorder.
All patients had serum neurotrophin (NT-3, BDNF, NGF) concentrations determined.
Title: Melatonin and neurotrophins NT-3, BDNF, NGF in patients with varying levels of depression severity.
There were no differences in neurotrophin levels between patients with schizophrenia and controls. We found lower BDNF and higher NT-3 serum levels in depressed patients with schizophrenia.
Title: Serum levels of brain-derived neurotrophic factor (BDNF) and neurotrophin-3 (NT-3) in depressed patients with schizophrenia.
The results suggest a gene dose-association between the A allele of rs6332 and the onset of AD in varepsilon4 non-carriers and the NTF-3 rs6489630 polymorphism being a relevant risk factor for AD in patients lacking the ApoE-varepsilon4 allele in this Chinese sample.
Title: Polymorphisms of the neurotrophic factor-3 (NTF-3) in Alzheimer's disease: rs6332 associated with onset time and rs6489630 T allele exhibited a protective role.

Submit: New GeneRIF Correction See all GeneRIFs (71)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
MAPK signaling pathway, organism-specific biosystem (from KEGG)
MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
MAPK signaling pathway, conserved biosystem (from KEGG)
MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem
Neurotrophic factor-mediated Trk receptor signaling
Neurotrophin signaling pathway, organism-specific biosystem (from KEGG)
Neurotrophin signaling pathway, organism-specific biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
Neurotrophin signaling pathway, conserved biosystem (from KEGG)
Neurotrophin signaling pathway, conserved biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
Trk receptor signaling mediated by the MAPK pathway, organism-specific biosystem (from Pathway Interaction Database)
Trk receptor signaling mediated by the MAPK pathway, organism-specific biosystem
Trk receptor signaling mediated by the MAPK pathway
p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
p75(NTR)-mediated signaling, organism-specific biosystem
p75(NTR)-mediated signaling

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483844

UniSTS:225313 (e-PCR)
- UniSTS:225313

GDB:214846 (e-PCR)
- UniSTS:156195

RH48860 (e-PCR)
- UniSTS:58174

D12S99 (e-PCR), detects polymorphism
- UniSTS:48707

G42645 (e-PCR)
- UniSTS:94545

SHGC-149817 (e-PCR)
- UniSTS:177240

D12S99 (e-PCR), detects polymorphism
- UniSTS:52654

G19257 (e-PCR)
- UniSTS:19909

SHGC-943 (e-PCR)
- UniSTS:173266

GDB:210011 (e-PCR)
- UniSTS:156125

Ntf3 (e-PCR), detects polymorphism
- UniSTS:507105

SHGC-142535 (e-PCR)
- UniSTS:171515

Homology

Homologs of the NTF3 gene: The NTF3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 254 organisms have orthologs with human gene NTF3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
chemoattractant activity	IDA Inferred from Direct Assay more info	PubMed
growth factor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
growth factor activity	IDA Inferred from Direct Assay more info	PubMed
neurotrophin receptor binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
activation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
activation of MAPK activity	IDA Inferred from Direct Assay more info	PubMed
activation of protein kinase B activity	IDA Inferred from Direct Assay more info	PubMed
cell-cell signaling	TAS Traceable Author Statement more info	PubMed
induction of positive chemotaxis	IDA Inferred from Direct Assay more info	PubMed
memory	IBA Inferred from Biological aspect of Ancestor more info	PubMed
modulation of chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
nerve development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nerve growth factor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nervous system development	TAS Traceable Author Statement more info	PubMed
neuron projection morphogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
peripheral nervous system development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive chemotaxis	IEA Inferred from Electronic Annotation more info
positive regulation of actin cytoskeleton reorganization	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of phosphatidylinositol 3-kinase signaling	TAS Traceable Author Statement more info
positive regulation of phospholipase C activity	TAS Traceable Author Statement more info
positive regulation of receptor internalization	IDA Inferred from Direct Assay more info	PubMed
regulation of apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
regulation of neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of signaling receptor activity	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
transmembrane receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
transmembrane receptor protein tyrosine kinase signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
axon	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info	PubMed
dendrite	IBA Inferred from Biological aspect of Ancestor more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: neurotrophin-3

Names: nerve growth factor 2; neurotrophic factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_050629.1 RefSeqGene

Range

5001..68186

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001102654.2 → NP_001096124.1 neurotrophin-3 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001096124.1

Status: REVIEWED

Source sequence(s)

AC007848, BC069773, BU939830, CD672441, CN267386

Consensus CDS

CCDS44806.1

UniProtKB/Swiss-Prot

P20783

Related

ENSP00000397297.2, ENST00000423158.3

Conserved Domains (1) summary

pfam00243
Location:157 → 266

NGF; Nerve growth factor family
NM_002527.4 → NP_002518.1 neurotrophin-3 isoform 2 preproprotein

See identical proteins and their annotated locations for NP_002518.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' sequence and uses a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

BC069773, CD672441

Consensus CDS

CCDS8538.1

UniProtKB/Swiss-Prot

P20783

Related

ENSP00000328738.6, ENST00000331010.7

Conserved Domains (1) summary

pfam00243
Location:144 → 253

NGF; Nerve growth factor family