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 ... See more...

Aliases for NTF3 Gene

Aliases for NTF3 Gene

  • Neurotrophin 3 2 3 5
  • Nerve Growth Factor 2 3 4
  • Neurotrophic Factor 3 4
  • Neurotrophin-3 3 4
  • NGF-2 3 4
  • HDNF 3 4
  • NGF2 2 3
  • NT-3 3 4
  • NTF3 5
  • NT3 3

External Ids for NTF3 Gene

Previous GeneCards Identifiers for NTF3 Gene

  • GC12U990064
  • GC12P005487
  • GC12P005420
  • GC12P005473
  • GC12P005541

Summaries for NTF3 Gene

Entrez Gene Summary for NTF3 Gene

  • 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]

GeneCards Summary for NTF3 Gene

NTF3 (Neurotrophin 3) is a Protein Coding gene. Diseases associated with NTF3 include Diabetic Neuropathy and Hypochondriasis. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and chemoattractant activity. An important paralog of this gene is NGF.

UniProtKB/Swiss-Prot Summary for NTF3 Gene

  • Seems to promote the survival of visceral and proprioceptive sensory neurons.

Gene Wiki entry for NTF3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NTF3 Gene

Genomics for NTF3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NTF3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NTF3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NTF3

Top Transcription factor binding sites by QIAGEN in the NTF3 gene promoter:
  • AP-1
  • ATF-2
  • c-Ets-1
  • c-Jun
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • LyF-1

Genomic Locations for NTF3 Gene

Latest Assembly
chr12:5,432,108-5,521,536
(GRCh38/hg38)
Size:
89,429 bases
Orientation:
Plus strand

Previous Assembly
chr12:5,541,274-5,604,465
(GRCh37/hg19 by Entrez Gene)
Size:
63,192 bases
Orientation:
Plus strand

chr12:5,541,278-5,630,702
(GRCh37/hg19 by Ensembl)
Size:
89,425 bases
Orientation:
Plus strand

Genomic View for NTF3 Gene

Genes around NTF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NTF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NTF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NTF3 Gene

Proteins for NTF3 Gene

  • Protein details for NTF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20783-NTF3_HUMAN
    Recommended name:
    Neurotrophin-3
    Protein Accession:
    P20783
    Secondary Accessions:
    • B7Z1T5
    • Q6FH50

    Protein attributes for NTF3 Gene

    Size:
    257 amino acids
    Molecular mass:
    29355 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for NTF3 Gene

    Alternative splice isoforms for NTF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NTF3 Gene

Post-translational modifications for NTF3 Gene

  • Glycosylation at Asn131
  • Modification sites at PhosphoSitePlus

Other Protein References for NTF3 Gene

Antibodies for research

No data available for DME Specific Peptides for NTF3 Gene

Domains & Families for NTF3 Gene

Gene Families for NTF3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for NTF3 Gene

InterPro:
Blocks:
  • Growth factor cystine knot superfamily signature
  • Nerve growth factor

Suggested Antigen Peptide Sequences for NTF3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54849, highly similar to Neurotrophin-3 (B7Z1T5_HUMAN)
  • Neurotrophic factor (NTF3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20783

UniProtKB/Swiss-Prot:

NTF3_HUMAN :
  • Belongs to the NGF-beta family.
Family:
  • Belongs to the NGF-beta family.
genes like me logo Genes that share domains with NTF3: view

Function for NTF3 Gene

Molecular function for NTF3 Gene

UniProtKB/Swiss-Prot Function:
Seems to promote the survival of visceral and proprioceptive sensory neurons.
GENATLAS Biochemistry:
neurotrophic factor (neurotrophin) 3,29.3kDa,ligand for NTRK3 (TRKC),expressed in retina and the anterior segment of the developing eye

LifeMap Function Summary for NTF3 Gene

Phenotypes From GWAS Catalog for NTF3 Gene

Gene Ontology (GO) - Molecular Function for NTF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding TAS 2236018
GO:0005163 nerve growth factor receptor binding IBA 21873635
GO:0005165 neurotrophin receptor binding IEA --
GO:0005515 protein binding IPI 18596692
GO:0008083 growth factor activity IDA 23027130
genes like me logo Genes that share ontologies with NTF3: view
genes like me logo Genes that share phenotypes with NTF3: view

Animal Models for NTF3 Gene

MGI Knock Outs for NTF3:

miRNA for NTF3 Gene

miRTarBase miRNAs that target NTF3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NTF3

Clone products for research

  • Addgene plasmids for NTF3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NTF3 Gene

Localization for NTF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NTF3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NTF3 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 3
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NTF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0008021 synaptic vesicle IBA 21873635
GO:0030424 axon IBA 21873635
GO:0030425 dendrite IBA 21873635
genes like me logo Genes that share ontologies with NTF3: view

Pathways & Interactions for NTF3 Gene

PathCards logo

SuperPathways for NTF3 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 TGF-Beta Pathway
.60
.60
.57
.51
.43
5 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
genes like me logo Genes that share pathways with NTF3: view

Pathways by source for NTF3 Gene

2 GeneGo (Thomson Reuters) pathways for NTF3 Gene
  • Development MAG-dependent inhibition of neurite outgrowth
  • Development Neurotrophin family signaling
56 Qiagen pathways for NTF3 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for NTF3 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for NTF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IDA 23027130
GO:0002092 positive regulation of receptor internalization IDA 23027130
GO:0007165 signal transduction TAS 2236018
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IDA 23027130
GO:0007267 cell-cell signaling TAS 2236018
genes like me logo Genes that share ontologies with NTF3: view

Drugs & Compounds for NTF3 Gene

(46) Drugs for NTF3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(28) Additional Compounds for NTF3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NTF3: view

Transcripts for NTF3 Gene

mRNA/cDNA for NTF3 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NTF3

Clone products for research

  • Addgene plasmids for NTF3

Alternative Splicing Database (ASD) splice patterns (SP) for NTF3 Gene

No ASD Table

Relevant External Links for NTF3 Gene

GeneLoc Exon Structure for
NTF3

Expression for NTF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NTF3 Gene

mRNA differential expression in normal tissues according to GTEx for NTF3 Gene

This gene is overexpressed in Artery - Tibial (x8.1), Artery - Aorta (x6.2), and Artery - Coronary (x6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NTF3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NTF3

SOURCE GeneReport for Unigene cluster for NTF3 Gene:

Hs.99171

mRNA Expression by UniProt/SwissProt for NTF3 Gene:

P20783-NTF3_HUMAN
Tissue specificity: Brain and peripheral tissues.

Evidence on tissue expression from TISSUES for NTF3 Gene

  • Nervous system(4.7)
  • Blood(4.4)
  • Muscle(2.5)
  • Adrenal gland(2.5)
  • Skin(2.4)
  • Heart(2.1)
  • Kidney(2.1)
  • Liver(2.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with NTF3: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NTF3 Gene

Orthologs for NTF3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NTF3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NTF3 29 30
  • 98.7 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NTF3 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia NTF3 29 30
  • 92.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ntf3 29
  • 90.62 (n)
Mouse
(Mus musculus)
Mammalia Ntf3 29 16 30
  • 90 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NTF3 29 30
  • 89.68 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NT-3 30
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NTF3 29 30
  • 78.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NTF3 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ntf3 29
  • 73.28 (n)
Str.3752 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.1074 29
Zebrafish
(Danio rerio)
Actinopterygii ntf3 29 30
  • 59.48 (n)
OneToOne
Species where no ortholog for NTF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NTF3 Gene

ENSEMBL:
Gene Tree for NTF3 (if available)
TreeFam:
Gene Tree for NTF3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NTF3: view image
Alliance of Genome Resources:
Additional Orthologs for NTF3

Paralogs for NTF3 Gene

Paralogs for NTF3 Gene

(3) SIMAP similar genes for NTF3 Gene using alignment to 1 proteins:

  • NTF3_HUMAN
genes like me logo Genes that share paralogs with NTF3: view

Variants for NTF3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for NTF3 Gene

NTF3_HUMAN-P20783
Variant Glu-76 (frequently reported as Glu-63) was thought to be associated with severe forms of schizophrenia. This does not seem to be the case.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NTF3 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs117869475 Benign: not provided 5,494,760(+) C/T
NM_001102654.2(NTF3):c.585C>T (p.Gly195=)
SYNONYMOUS
rs1805149 Likely Benign: Hirschsprung disease 5,494,441(+) G/Ap.Gly76Glu
NM_001102654.2(NTF3):c.266G>A (p.Gly89Glu)
MISSENSE
rs1805150 Benign: not provided 5,494,823(+) C/T
NM_001102654.2(NTF3):c.648C>T (p.Asn216=)
SYNONYMOUS
rs35988749 Benign: not provided 5,494,484(+) C/T
NM_001102654.2(NTF3):c.309C>T (p.Thr103=)
SYNONYMOUS
rs540320780 Uncertain Significance: Hirschsprung disease 1 5,494,440(+) G/A
NM_001102654.2(NTF3):c.265G>A (p.Gly89Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NTF3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NTF3 Gene

Variant ID Type Subtype PubMed ID
dgv1348n100 CNV gain 25217958
esv2559368 CNV insertion 19546169
esv3358188 CNV duplication 20981092
nsv1040098 CNV gain 25217958
nsv1051126 CNV gain 25217958
nsv1110206 CNV duplication 24896259
nsv1152910 CNV duplication 26484159
nsv468988 CNV gain 19166990
nsv470262 CNV gain 18288195
nsv473788 CNV novel sequence insertion 20440878
nsv478052 CNV novel sequence insertion 20440878
nsv513347 CNV insertion 21212237
nsv523152 CNV gain 19592680
nsv524170 CNV gain 19592680
nsv557155 CNV gain 21841781
nsv592 CNV insertion 18451855

Variation tolerance for NTF3 Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.35; 70.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NTF3 Gene

Human Gene Mutation Database (HGMD)
NTF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NTF3
Leiden Open Variation Database (LOVD)
NTF3

SNP Genotyping and Copy Number Assays for research

Disorders for NTF3 Gene

MalaCards: The human disease database

(40) MalaCards diseases for NTF3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
diabetic neuropathy
  • diabetic neuropathies
hypochondriasis
  • hypochondria
diabetic polyneuropathy
  • diabetes mellitus with polyneuropathy
demyelinating disease
  • demyelinating disorder
diabetic autonomic neuropathy
  • diabetic neuropathies
- elite association - COSMIC cancer census association via MalaCards
Search NTF3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NTF3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NTF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NTF3 Gene

Publications for NTF3 Gene

  1. Human and rat brain-derived neurotrophic factor and neurotrophin-3: gene structures, distributions, and chromosomal localizations. (PMID: 1889806) Maisonpierre PC … Yancopoulos GD (Genomics 1991) 2 3 4 22
  2. Neurotrophic factor-related gene polymorphisms and adult attention deficit hyperactivity disorder (ADHD) score in a high-risk male population. (PMID: 18428117) Conner AC … Thome J (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 22 40
  3. Structure of the brain-derived neurotrophic factor/neurotrophin 3 heterodimer. (PMID: 7703225) Robinson RC … Jones EY (Biochemistry 1995) 3 4 22
  4. Association of neurotrophin-3 gene variant with severe forms of schizophrenia. (PMID: 7733919) Hattori M … Nanko S (Biochemical and biophysical research communications 1995) 3 4 40
  5. Increased neurotrophin-3 in drug-free subjects with bipolar disorder during manic and depressive episodes. (PMID: 20060128) Fernandes BS … Kapczinski F (Journal of psychiatric research 2010) 3 22

Products for NTF3 Gene

  • Addgene plasmids for NTF3

Sources for NTF3 Gene