AutismKB


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Evidence Detail for GRIN2A


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Basic Information Top
Gene Symbol:GRIN2A ( NMDAR2A,NR2A )
Gene Full Name: glutamate receptor, ionotropic, N-methyl D-aspartate 2A
Band: 16p13.2
Quick LinksEntrez ID:2903; OMIM: 138253; Uniprot ID:NMDE1_HUMAN; ENSEMBL ID: ENSG00000183454
Sequences Top
>GRIN2A|2903|nucleotide
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>GRIN2A|2903|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 1 (2) 0 (0) 1 (2) 2 (4) 1 (2) 0 (1) 13 (9)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
de Krom, 2008_2 Replication 6 (detail) 128
(14.06%)
ASD -
(4-18)
- 273
(-)
-
-
de Krom, 2008_1 Discovery 6 (detail) 144
(17.36%)
ASD -
(4-18)
- 404
(-)
-
-
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Barnby, 2005_1 human bloodASD genetics: mutation screen
  • Subjects: 48
  • Normal Controls: 190
  • Methods: -
  • Evidence Details: no missense variants were detected during mutation screening of the coding sequence, and 11 noncoding/silent variants were found.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000343 16 16p13 loss 3 - CNVs Not Present In Control; Denovo CNVs; Bucan, 2009
AutCNV0003391 16 16p13.2 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003725 16 16p13.13-13.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000005 16p13.2 16 ATA41E04 1.64 - - McCauley, 2005
AutLD0000026 16p13.2 16 D16S407 1.28 - - Bailey, 1998
AutLD0000037 16p13.2 16 D16S407 1.59 - - Monaco, 2001
AutLD0000091 16p13 16 D16S2619 - 2.17 - Buxbaum, 2004

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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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