Evidence Detail for NTF3

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Basic Information Top
Gene Symbol:NTF3 ( HDNF,MGC129711,NGF-2,NGF2,NT3 )
Gene Full Name: neurotrophin 3
Band: 12p13
Quick LinksEntrez ID:4908; OMIM: 162660; Uniprot ID:NTF3_HUMAN; ENSEMBL ID: ENSG00000185652
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 2 (3) 19 (5)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
Toma, 2012_1 Spanish 2 (detail) 326
ASD 17
- 350
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Nelson, 2001_1 human neonatal blood--ASD protein expression
  • Subjects: 69
  • Normal Controls: 54
  • Methods: recycling immunoaffinity chromatography
  • Evidence Details: We used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). SP, PACAP, NGF, and NT3 were not different by diagnostic group.
Nelson, 2006_1 human neonatal blood--AD protein expression
  • Subjects: -
  • Normal Controls: -
  • Methods: double-antibody immunoaffinity assay (Luminex) and ELISA technology
  • Evidence Details: In samples from autistic subjects, NT-3 levels were significantly lower than controls and an increase in VIP approached statistical significance.
Sajdel-Sulkowska, 2009_1 human postmortem frozen cerebellar tissue--- protein expression
  • Subjects: 8 (1 female, 7 male)
  • Normal Controls: 7 (3 female, 4 male)
  • Methods: ELISA
  • Evidence Details: Analysis of cerebellar NT-3 showed a significant (p = 0.034) increase (40.3%) in autism. Furthermore, there was a significant positive correlation between cerebellar NT-3 and 3-NT (r = 0.83; p = 0.0408).
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000363 12 12p13.31 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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