Evidence Details for GRIK2

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Basic Information Top

Gene Symbol:	GRIK2 ( EAA4,GLR6,GLUK6,GLUR6,MGC74427,MRT6 )
Gene Full Name:	glutamate receptor, ionotropic, kainate 2
Band:	6q16.3
Quick Links	Entrez ID:2898; OMIM: 138244; Uniprot ID:GRIK2_HUMAN; ENSEMBL ID: ENSG00000164418; HGNC ID: 4580
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>GRIK2|2898|nucleotide
ATGAAGATTATTTTCCCGATTCTAAGTAATCCAGTCTTCAGGCGCACCGTTAAACTCCTGCTCTGTTTACTGTGGATTGGATATTCTCAAGGAACCACACATGTA
TTAAGATTTGGTGGTATTTTTGAATATGTGGAATCTGGCCCAATGGGAGCTGAGGAACTTGCATTCAGATTTGCTGTGAACACAATTAACAGAAACAGAACATTG
CTACCCAATACTACCCTTACCTATGATACCCAGAAGATAAACCTTTATGATAGTTTTGAAGCATCCAAGAAAGCCTGTGATCAGCTGTCTCTTGGGGTGGCTGCC
ATCTTCGGGCCTTCACACAGCTCATCAGCAAACGCAGTGCAGTCCATCTGCAATGCTCTGGGAGTTCCCCACATACAGACCCGCTGGAAGCACCAGGTGTCAGAC
AACAAAGATTCCTTCTATGTCAGTCTCTACCCAGACTTCTCTTCACTCAGCCGTGCCATTTTAGACCTGGTGCAGTTTTTCAAGTGGAAAACCGTCACGGTTGTG
TATGATGACAGCACTGGTCTCATTCGTTTGCAAGAGCTCATCAAAGCTCCATCAAGGTATAATCTTCGACTCAAAATTCGTCAGTTACCTGCTGATACAAAGGAT
GCAAAACCCTTACTAAAAGAAATGAAAAGAGGCAAGGAGTTTCATGTAATCTTTGATTGTAGCCATGAAATGGCAGCAGGCATTTTAAAACAGGCATTAGCTATG
GGAATGATGACAGAATACTATCATTATATCTTTACCACTCTGGACCTCTTTGCTCTTGATGTTGAGCCCTACCGATACAGTGGTGTTAACATGACAGGGTTCAGA
ATATTAAATACAGAAAATACCCAAGTCTCCTCCATCATTGAAAAGTGGTCGATGGAACGATTGCAGGCACCTCCGAAACCCGATTCAGGTTTGCTGGATGGATTT
ATGACGACTGATGCTGCTCTAATGTATGATGCTGTGCATGTGGTGTCTGTGGCCGTTCAACAGTTTCCCCAGATGACAGTCAGTTCCTTGCAGTGTAATCGACAT
AAACCCTGGCGCTTCGGGACCCGCTTTATGAGTCTAATTAAAGAGGCACATTGGGAAGGCCTCACAGGCAGAATAACTTTCAACAAAACCAATGGCTTGAGAACA
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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 (1)	0 (1)	1 (1)	3 (5)	0 (0)	0 (1)	0 (0)	0 (1)	0 (0)	8 (10)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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
Nord, 2011	US	aCGH	-	-	ASD	-	-	-	-	41	367	408

Linkage 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
Philippe, 1999	Sweden, France, Norway, Italy, Austria, Belgium, U	microsatellite-based genomic screen			autism	51	-	51	-	-	-	-

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 4

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Jamian, 2002_1	PARIS	fluorescently labelled Taq DyeDeoxy terminator reaction mix and a 373A automated DNA sequencer (Applied Biosystems)	166	227 (-)			ASD	- -	- -
ASIAN
Shuang, 2004_1	China	PCR-based RFLP analysis	174	174 (4.02%)			AD	6.08±2.97 -	- -
Dutta, 2007_1	India	PCR-RFLP	101	101 (16.67%)			ASD	5.84±2.95 -	- -
Kim, 2007_1	Korea	PCR-RFLP	126	126 (13.49%)			ASD	- -	65.0±27.7 (25�126)

Case Control Based Association Studies: 1

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?

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
Chen R, 2017	107	116	128	Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut

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
Doan RN, 2016	-	-	-	-	ASD	-	-	-	-	-

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 GRIK2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics