This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 prove lethal during early po... See more...

Aliases for NTF4 Gene

Aliases for NTF4 Gene

  • Neurotrophin 4 2 3 5
  • Neurotrophin 5 (Neurotrophin 4/5) 2 3
  • Neurotrophic Factor 4 2 3
  • Neutrophic Factor 4 3 4
  • Neurotrophin-4 3 4
  • Neurotrophin-5 3 4
  • NTF5 3 4
  • NT-4 3 4
  • NT-5 3 4
  • Neurotrophic Factor 5 3
  • NT-4/5 3
  • GLC10 3
  • GLC1O 3
  • NT4 3
  • NT5 3

External Ids for NTF4 Gene

Previous HGNC Symbols for NTF4 Gene

  • NTF5

Previous GeneCards Identifiers for NTF4 Gene

  • GC19M054257
  • GC19M049564
  • GC19M045941
  • GC19M049565
  • GC19M049055

Summaries for NTF4 Gene

Entrez Gene Summary for NTF4 Gene

  • This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 prove lethal during early postnatal development, NTF5-deficient mice only show minor cellular deficits and develop normally to adulthood. [provided by RefSeq, Jul 2008]

GeneCards Summary for NTF4 Gene

NTF4 (Neurotrophin 4) is a Protein Coding gene. Diseases associated with NTF4 include Glaucoma 1, Open Angle, O and Open-Angle Glaucoma. Among its related pathways are ERK Signaling and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and neurotrophin p75 receptor binding. An important paralog of this gene is BDNF.

UniProtKB/Swiss-Prot Summary for NTF4 Gene

  • Target-derived survival factor for peripheral sensory sympathetic neurons.

Gene Wiki entry for NTF4 Gene

Additional gene information for NTF4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NTF4 Gene

Genomics for NTF4 Gene

GeneHancer (GH) Regulatory Elements for NTF4 Gene

Promoters and enhancers for NTF4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J049063 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 500.7 +0.2 205 2.7 TEAD4 CTCF SP2 ZNF335 KLF17 VEZF1 POLR2A MAZ SP3 EZH2 ENSG00000268287 ENSG00000283663 NTF4 lnc-KCNA7-1 CGB8
GH19J049072 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 18.3 -8.6 -8604 1.7 CTCF ZBTB5 ZBTB11 REST CTBP1 TRIM25 EZH2 NCOR1 ZNF316 MYNN KCNA7 NTF4 SNRNP70 CGB8 MAMSTR SULT2B1 L13714-246
GH19J048988 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.6 +73.0 73023 7.2 FOXK2 ZBTB40 ZNF217 CTCF SIN3A TCF12 NRF1 POLR2G SP1 NCOR1 RUVBL2 GYS1 lnc-LHB-2 ENSG00000268655 NUP62 NUCB1 GRWD1 FTL CGB7 NTF4
GH19J049113 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 12 -49.8 -49827 3 RXRA ZNF217 CTCF TCF12 POLR2G USF1 SP1 SIX5 ZFX ZIC2 LIN7B CGB8 SNRNP70 NTF4 CGB7 KCNA7 C19orf73
GH19J049084 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.3 -20.9 -20856 3.3 FOXK2 HNRNPK ZBTB40 ZSCAN5C SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 SNRNP70 NONHSAG026220.2 lnc-KCNA7-2 PRR12 IRF3 GRWD1 RPS11 ENSG00000268093 SNORD35A NTF4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NTF4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NTF4

Top Transcription factor binding sites by QIAGEN in the NTF4 gene promoter:
  • Brachyury
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • Egr-4
  • NF-Y
  • NF-YA
  • NF-YB
  • p53

Genomic Locations for NTF4 Gene

Genomic Locations for NTF4 Gene
chr19:49,061,066-49,065,076
(GRCh38/hg38)
Size:
4,011 bases
Orientation:
Minus strand
chr19:49,559,050-49,568,333
(GRCh37/hg19)
Size:
9,284 bases
Orientation:
Minus strand

Genomic View for NTF4 Gene

Genes around NTF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NTF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NTF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NTF4 Gene

Proteins for NTF4 Gene

  • Protein details for NTF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P34130-NTF4_HUMAN
    Recommended name:
    Neurotrophin-4
    Protein Accession:
    P34130
    Secondary Accessions:
    • Q6FH56

    Protein attributes for NTF4 Gene

    Size:
    210 amino acids
    Molecular mass:
    22427 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for NTF4 Gene

neXtProt entry for NTF4 Gene

Post-translational modifications for NTF4 Gene

  • Glycosylation at Asn76
  • Modification sites at PhosphoSitePlus

Other Protein References for NTF4 Gene

No data available for DME Specific Peptides for NTF4 Gene

Domains & Families for NTF4 Gene

Gene Families for NTF4 Gene

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

Protein Domains for NTF4 Gene

Suggested Antigen Peptide Sequences for NTF4 Gene

GenScript: Design optimal peptide antigens:
  • Neutrophic factor 4 (NTF4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P34130

UniProtKB/Swiss-Prot:

NTF4_HUMAN :
  • Belongs to the NGF-beta family.
Family:
  • Belongs to the NGF-beta family.
genes like me logo Genes that share domains with NTF4: view

Function for NTF4 Gene

Molecular function for NTF4 Gene

UniProtKB/Swiss-Prot Function:
Target-derived survival factor for peripheral sensory sympathetic neurons.

LifeMap Function Summary for NTF4 Gene

NTF4 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for NTF4 Gene

Gene Ontology (GO) - Molecular Function for NTF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25241761
GO:0008083 growth factor activity IBA,IEA 21873635
genes like me logo Genes that share ontologies with NTF4: view
genes like me logo Genes that share phenotypes with NTF4: view

Human Phenotype Ontology for NTF4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NTF4 Gene

MGI Knock Outs for NTF4:
  • Ntf5 Ntf5<tm1b(EUCOMM)Hmgu>
  • Ntf5 Ntf5<tm1Par>
  • Ntf5 Ntf5<tm1Jae>
  • Ntf5 Ntf5<tm1Gdy>

miRNA for NTF4 Gene

miRTarBase miRNAs that target NTF4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NTF4 Gene

Localization for NTF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NTF4 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 NTF4 gene
Compartment Confidence
extracellular 5
cytoskeleton 3
nucleus 3
cytosol 3
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NTF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,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 NTF4: view

Pathways & Interactions for NTF4 Gene

PathCards logo

SuperPathways for NTF4 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 NTF4: view

Pathways by source for NTF4 Gene

2 GeneGo (Thomson Reuters) pathways for NTF4 Gene
  • Development MAG-dependent inhibition of neurite outgrowth
  • Development Neurotrophin family signaling
56 Qiagen pathways for NTF4 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 NTF4 Gene

Activates:

Gene Ontology (GO) - Biological Process for NTF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA 21873635
GO:0007202 activation of phospholipase C activity TAS --
GO:0007402 ganglion mother cell fate determination ISS 10681461
GO:0007422 peripheral nervous system development IBA 21873635
genes like me logo Genes that share ontologies with NTF4: view

Drugs & Compounds for NTF4 Gene

(15) Drugs for NTF4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for NTF4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NTF4: view

Transcripts for NTF4 Gene

mRNA/cDNA for NTF4 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NTF4 Gene

No ASD Table

Relevant External Links for NTF4 Gene

GeneLoc Exon Structure for
NTF4

Expression for NTF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NTF4 Gene

mRNA differential expression in normal tissues according to GTEx for NTF4 Gene

This gene is overexpressed in Prostate (x7.3), Skin - Not Sun Exposed (Suprapubic) (x7.1), Skin - Sun Exposed (Lower leg) (x5.7), Esophagus - Mucosa (x5.0), Muscle - Skeletal (x4.4), Vagina (x4.2), and Bladder (x4.1).

Protein differential expression in normal tissues from HIPED for NTF4 Gene

This gene is overexpressed in Breast (46.1) and Pancreatic juice (21.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NTF4 Gene



Protein tissue co-expression partners for NTF4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NTF4

SOURCE GeneReport for Unigene cluster for NTF4 Gene:

Hs.266902

mRNA Expression by UniProt/SwissProt for NTF4 Gene:

P34130-NTF4_HUMAN
Tissue specificity: Highest levels in prostate, lower levels in thymus, placenta, and skeletal muscle. Expressed in embryonic and adult tissues.

Evidence on tissue expression from TISSUES for NTF4 Gene

  • Nervous system(3.8)
  • Muscle(2.1)
  • Adrenal gland(2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NTF4 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with NTF4: view

Orthologs for NTF4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NTF4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NTF4 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NTF4 31 30
  • 88.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NTF4 31 30
  • 88.41 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ntf4 30
  • 84.05 (n)
mouse
(Mus musculus)
Mammalia Ntf5 17 31 30
  • 83.73 (n)
oppossum
(Monodelphis domestica)
Mammalia NTF4 31
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NTF4 31
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ntf4 30
  • 56.13 (n)
zebrafish
(Danio rerio)
Actinopterygii NTF4 31
  • 50 (a)
OneToOne
Species where no ortholog for NTF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 NTF4 Gene

ENSEMBL:
Gene Tree for NTF4 (if available)
TreeFam:
Gene Tree for NTF4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NTF4: view image

Paralogs for NTF4 Gene

Paralogs for NTF4 Gene

(3) SIMAP similar genes for NTF4 Gene using alignment to 4 proteins:

  • NTF4_HUMAN
  • E7EP46_HUMAN
  • M0QZQ0_HUMAN
  • M0R0X2_HUMAN
genes like me logo Genes that share paralogs with NTF4: view

Variants for NTF4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NTF4 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
783846 Benign: not provided 49,061,795(-) C/T MISSENSE_VARIANT
rs121918427 Conflicting Interpretations: Glaucoma 1, open angle, O. Glaucoma 1, open angle, O (GLC1O) [MIM:613100] 49,061,382(-) G/Ap.Arg206Trp MISSENSE_VARIANT
rs121918428 Pathogenic: Glaucoma 1, open angle, O. Glaucoma 1, open angle, O (GLC1O) [MIM:613100] 49,061,381(-) C/Tp.Arg206Gln MISSENSE_VARIANT
rs200675509 Glaucoma 1, open angle, O (GLC1O) [MIM:613100] p.Arg209Gly
rs61732310 Uncertain Significance: Glaucoma 1, open angle, O. - 49,061,735(-) G/Ap.Ala88Val MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NTF4 Gene

Structural Variations from Database of Genomic Variants (DGV) for NTF4 Gene

Variant ID Type Subtype PubMed ID
esv3644612 CNV gain 21293372
nsv520785 CNV gain 19592680
nsv833857 CNV loss 17160897
nsv833859 CNV loss 17160897
nsv953598 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for NTF4 Gene

Residual Variation Intolerance Score: 31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.00; 74.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NTF4 Gene

Human Gene Mutation Database (HGMD)
NTF4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NTF4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NTF4 Gene

Disorders for NTF4 Gene

MalaCards: The human disease database

(22) MalaCards diseases for NTF4 Gene - From: OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glaucoma 1, open angle, o
  • glc1o
open-angle glaucoma
  • glaucoma simplex
hypochondriasis
  • hypochondria
secondary progressive multiple sclerosis
  • secondary-progressive ms
mononeuritis of lower limb
- elite association - COSMIC cancer census association via MalaCards
Search NTF4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NTF4_HUMAN
  • Glaucoma 1, open angle, O (GLC1O) [MIM:613100]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269 PubMed:19765683, ECO:0000269 PubMed:20215012}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Additional Disease Information for NTF4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NTF4: view

No data available for Genatlas for NTF4 Gene

Publications for NTF4 Gene

  1. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. (PMID: 19765683) Pasutto F … Reis A (American journal of human genetics 2009) 3 4 23 54
  2. The structures of the neurotrophin 4 homodimer and the brain-derived neurotrophic factor/neurotrophin 4 heterodimer reveal a common Trk-binding site. (PMID: 10631974) Robinson RC … Jones EY (Protein science : a publication of the Protein Society 1999) 3 4 23 54
  3. Mammalian neurotrophin-4: structure, chromosomal localization, tissue distribution, and receptor specificity. (PMID: 1313578) Ip NY … Squinto SP (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 23 54
  4. Human chromosome 19 contains the neurotrophin-5 gene locus and three related genes that may encode novel acidic neurotrophins. (PMID: 1496419) Berkemeier LR … Rosenthal A (Somatic cell and molecular genetics 1992) 2 3 23 54
  5. Differential expression and regulation by activin of the neurotrophins BDNF and NT4 during human and mouse ovarian development. (PMID: 20175187) Childs AJ … Anderson RA (Developmental dynamics : an official publication of the American Association of Anatomists 2010) 3 23 54

Products for NTF4 Gene

  • Boster Bio Antibodies for NTF4
  • Boster Bio ELISA Kits for NTF4

Sources for NTF4 Gene