NTF4 (neurotrophin 4)

Gene

• Entrez ID: 4909
• Gene name: Neurotrophin 4
• Gene symbol: NTF4
• Synonyms (NCBI Gene): GLC10, GLC1O, NT-4, NT-4/5, NT-5, NT4, NT5, NTF5
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: 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 neu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918427	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs121918428	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022666	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005163	Function	Nerve growth factor receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	10631974, 25241761, 25416956, 28514442, 29997244, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007616	Process	Long-term memory	IEA
GO:0007616	Process	Long-term memory	ISS	10869436
GO:0008021	Component	Synaptic vesicle	IBA
GO:0008052	Process	Sensory organ boundary specification	IEA
GO:0008052	Process	Sensory organ boundary specification	ISS	10479455
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008344	Process	Adult locomotory behavior	ISS	10681461
GO:0008544	Process	Epidermis development	IEA
GO:0008544	Process	Epidermis development	ISS	9973328
GO:0021675	Process	Nerve development	IBA
GO:0030424	Component	Axon	IBA
GO:0030425	Component	Dendrite	IBA
GO:0036305	Process	Ameloblast differentiation	IEA
GO:0036305	Process	Ameloblast differentiation	ISS
GO:0038180	Process	Nerve growth factor signaling pathway	IBA
GO:0042490	Process	Mechanoreceptor differentiation	IEA
GO:0043069	Process	Negative regulation of programmed cell death	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IBA
GO:0048812	Process	Neuron projection morphogenesis	IBA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0060384	Process	Innervation	IEA
GO:0061193	Process	Taste bud development	IEA

Other IDs

• MIM: 162662
• HGNC: 8024
• e!Ensembl: ENSG00000225950

Protein

• UniProt ID: P34130
• Protein name: Neurotrophin-4 (NT-4) (Neurotrophin-5) (NT-5) (Neutrophic factor 4)
• Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons (PubMed:1742028). May promote ameloblast differentiation and subsequent reduction in proliferation of ameloblasts (By similarity). {ECO:0000250|UniProtKB:Q80VU4, ECO:00002
• PDB: 1B8M, 1B98, 1HCF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00243	NGF	89 → 208	Nerve growth factor family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highest levels in prostate, lower levels in thymus, placenta, and skeletal muscle. Expressed in embryonic and adult tissues.
• Sequence:

  MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLF
  LLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEV
  LGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRAL
  TADAQGRVGWRWIRIDTACVCTLLSRTGRA

• Sequence length: 210

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
PI3K-Akt signaling pathway
Neurotrophin signaling pathway

Reactome:

Activated NTRK2 signals through PLCG1
Activated NTRK2 signals through FRS2 and FRS3

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma 1, open angle, O	Likely benign; no classifications from unflagged records	ClinVar CTD, ClinGen, ClinVar, Disgenet, HPO CTD, ClinGen, ClinVar, Disgenet, HPO CTD, ClinGen, ClinVar, Disgenet, HPO CTD, ClinGen, ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, X-linked 99	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NTF4-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	28888073	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12429188		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	20463313, 23422825		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	12900521		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	12900521	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23195334		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	11357950, 16289943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Platelet Disorders	Platelet disorder	Pubtator	34546355	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21350004		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	28888073	Inhibit	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31190895		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30884206	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	20806036	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28958613, 30654674, 30932945		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	10844552	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	10844552		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	10844552		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	22717347, 30251099		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	22717347	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	19765683	Associate	★☆☆☆☆ Found in Text Mining only
GLAUCOMA 1, OPEN ANGLE, O	Glaucoma	UNIPROT_DG	19765683, 20215012		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLAUCOMA 1, OPEN ANGLE, O	Glaucoma	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLAUCOMA 1, OPEN ANGLE, O	Glaucoma	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLAUCOMA 1, OPEN ANGLE, O	Glaucoma	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	31367175	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	23422825	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	19765683, 20806036, 22815630	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	19765683, 20463313, 20806036, 22815630		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31392756, 9588602		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	11357950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic stroke	Ischemic Stroke	BEFREE	29682700		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21350004		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29100299		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31190895		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12642316, 18305571	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18305571		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	11357950		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28958613, 30654674, 30932945		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28888073		★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	9546339		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	38003363	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21350004		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12808116		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary adult open-angle glaucoma	Open Angle Glaucoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	14613990		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29701077		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28958613		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	20463313, 23422825		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	11357950		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	10440874		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16316409		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30269004, 30654674		★☆☆☆☆ Found in Text Mining only
SCHIZOPHRENIA 19	Schizophrenia	BEFREE	30654674		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	10844552	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	15817657	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12854135		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12854135	Inhibit	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	11583980		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	11583980	Associate	★☆☆☆☆ Found in Text Mining only