Evidence Details for GRIN2B

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	GRIN2B ( MGC142178,MGC142180,NMDAR2B,NR2B,hNR3 )
Gene Full Name:	glutamate receptor, ionotropic, N-methyl D-aspartate 2B
Band:	12p13.1
Quick Links	Entrez ID:2904; OMIM: 138252; Uniprot ID:NMDE2_HUMAN; ENSEMBL ID: ENSG00000150086; HGNC ID: 4586
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>GRIN2B|2904|nucleotide
ATGAAGCCCAGAGCGGAGTGCTGTTCTCCCAAGTTCTGGTTGGTGTTGGCCGTCCTGGCCGTGTCAGGCAGCAGAGCTCGTTCTCAGAAGAGCCCCCCCAGCATT
GGCATTGCTGTCATCCTCGTGGGCACTTCCGACGAGGTGGCCATCAAGGATGCCCACGAGAAAGATGATTTCCACCATCTCTCCGTGGTACCCCGGGTGGAACTG
GTAGCCATGAATGAGACCGACCCAAAGAGCATCATCACCCGCATCTGTGATCTCATGTCTGACCGGAAGATCCAGGGGGTGGTGTTTGCTGATGACACAGACCAG
GAAGCCATCGCCCAGATCCTCGATTTCATTTCAGCACAGACTCTCACCCCCATCCTGGGCATCCACGGGGGCTCCTCTATGATAATGGCAGATAAGGATGAATCC
TCCATGTTCTTCCAGTTTGGCCCATCAATTGAACAGCAAGCTTCCGTAATGCTCAACATCATGGAAGAATATGACTGGTACATCTTTTCTATCGTCACCACCTAT
TTCCCTGGCTACCAGGACTTTGTAAACAAGATCCGCAGCACCATTGAGAATAGCTTTGTGGGCTGGGAGCTAGAGGAGGTCCTCCTACTGGACATGTCCCTGGAC
GATGGAGATTCTAAGATCCAGAATCAGCTCAAGAAACTTCAAAGCCCCATCATTCTTCTTTACTGTACCAAGGAAGAAGCCACCTACATCTTTGAAGTGGCCAAC
TCAGTAGGGCTGACTGGCTATGGCTACACGTGGATCGTGCCCAGTCTGGTGGCAGGGGATACAGACACAGTGCCTGCGGAGTTCCCCACTGGGCTCATCTCTGTA
TCATATGATGAATGGGACTATGGCCTCCCCGCCAGAGTGAGAGATGGAATTGCCATAATCACCACTGCTGCTTCTGACATGCTGTCTGAGCACAGCTTCATCCCT
GAGCCCAAAAGCAGTTGTTACAACACCCACGAGAAGAGAATCTACCAGTCCAATATGCTAAATAGGTATCTGATCAATGTCACTTTTGAGGGGAGGAATTTGTCC
TTCAGTGAAGATGGCTACCAGATGCACCCGAAACTGGTGATAATTCTTCTGAACAAGGAGAGGAAGTGGGAAAGGGTGGGGAAGTGGAAAGACAAGTCCCTGCAG
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>GRIN2B|2904|protein
MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQ
EAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLD
DGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIP
EPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVE
SVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDF
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Evidence summary 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	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	0 (0)	0 (0)	0 (0)	2 (3)	0 (0)	3 (9)	0 (0)	1 (2)	1 (1)	52 (15)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

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

Reference	Stage	Platform	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
No matched CNVs !

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 1

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
ASIAN
Yoo, 2012_1	Korean	Illumina GoldenGateTm Assay	151	151 (12.58%)			ASD, AP and PDD-NOS	79.9±35.6 months -	- -

Case Control Based Association Studies: 2

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
MIXED/OTHERS
Poot M, 2014_1	Unknown	Illumina Infinium HumanHap300 Genotyping BeadChip SNP arrays			ASD	- -	-	117 (-)	- 20-49?
Pan Y, 2015_1	China	ABI 3100/3130 DNA analyzer			autistic disorder	- -	-	286 (-)	- -	-
Pan Y, 2015_1	China	ABI 3100/3130 DNA analyzer			autistic disorder	- -	-	286 (-)	- -

Large Scale Expression Studies Top

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

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

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
O'Roak BJ, 2011	-	20	21	Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
O'Roak BJ, 2012	2446	-	46	Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak BJ, 2014	3486	-	59	Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Wang T, 2016	1543	1045	54	De novo genic mutations among a Chinese autism spectrum disorder cohort
Stessman HA, 2017	6342	-	74	Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development
Trujillano D, 2017	5	-	5	Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Nilsson D, 2017	8	-	17	Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
Wang T, 2016	China	Illumina HiSeq 2000			ASD	1045	-	-	1543	PCR and Sanger sequencing
Takasaki Y, 2016	Japan	3130xL Genetic Analyzer	-	-	ASD	-	-	-	152	-

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

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.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for GRIN2B

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics