Evidence Detail for GRIN2A

View Evidences	View Annotations

Basic Information Top

Gene Symbol:	GRIN2A ( NMDAR2A,NR2A )
Gene Full Name:	glutamate receptor, ionotropic, N-methyl D-aspartate 2A
Band:	16p13.2
Quick Links	Entrez ID:2903; OMIM: 138253; Uniprot ID:NMDE1_HUMAN; ENSEMBL ID: ENSG00000183454

Sequences Top

nucleotide Sequence
Protein Sequence

>GRIN2A|2903|nucleotide
Show »

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

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Barnby, 2005_1	IMGSAC	1 (detail)	239	- (-)			ASD	- -	- -
ASIAN
Yoo, 2012_1	Korean	6 (detail)	151	151 (12.58%)			ASD, AP and PDD-NOS	79.9±35.6 months -	- -

Case Control Based Association Studies: 0

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

Family Based Association Studies: 0

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Stage	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
No Evidence.

Case Control Based Association Studies: 2

Reference	Stage	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Stage	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
de Krom, 2008_1	Discovery	6 (detail)	144 (17.36%)			ASD	- (4-18)	-	404 (-)	- -
de Krom, 2008_2	Replication	6 (detail)	128 (14.06%)			ASD	- (4-18)	-	273 (-)	- -

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
Barnby, 2005_1	human	blood			ASD	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

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs		Evidence Type	Reference
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
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

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:

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
Click to Download Data