Evidence Detail for MTNR1A

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Basic Information Top
Gene Symbol:MTNR1A ( MEL-1A-R,MT1 )
Gene Full Name: melatonin receptor 1A
Band: 4q35.1
Quick LinksEntrez ID:4543; OMIM: 600665; Uniprot ID:MTR1A_HUMAN; ENSEMBL ID: ENSG00000168412
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 (3) 0 (0) 0 (1) 1 (2) 9 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Chaste, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 295
  • Normal Controls: 362
  • Methods: direct sequcing, western blot
  • Evidence Details: We identified six non-synonymous mutations for MTNR1A and ten for MTNR1B. The prevalence of these deleterious mutations in cases and controls indicates that they do not represent major risk factor for ASD. Concerning GPR50, we detected a significant association between ASD and two variations, D502
Jonsson, 2010_1 human -ASD genetics: mutation screen
  • Subjects: 109 (40 females and 69 males)
  • Normal Controls: 188 (94 females and 94 males)
  • Methods: direct sequencing
  • Evidence Details: Several rare variants were identified in patients with ASD, including the previously reported splice site mutation in ASMT (IVS5+2T>C). Of the variants affecting protein sequence, only the V124I in the MTNR1B gene was absent in our comparison group. However, mutations were found in upstream regulatory regions in three of the genes investigated, ASMT, MTNR1A, and MTNR1B.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000060 4 4q34.3-35.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000061 4 4q35.1-35.2 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0002517 4 4q35.2 gain 1 - maternal Pinto, 2010
AutCNV0003908 4 4q35.2 gain 1 - CNVs Only Present In Patients; Levy, 2011
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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