Evidence Details for GABRG2

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Basic Information Top

Gene Symbol:	GABRG2 ( CAE2,ECA2,GEFSP3 )
Gene Full Name:	gamma-aminobutyric acid (GABA) A receptor, gamma 2
Band:	5q34
Quick Links	Entrez ID:2566; OMIM: 137164; Uniprot ID:GBRG2_HUMAN; ENSEMBL ID: ENSG00000113327; HGNC ID: 4087
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>GABRG2|2566|nucleotide
ATGAGTTCGCCAAATATATGGAGCACAGGAAGCTCAGTCTACTCGACTCCTGTATTTTCACAGAAAATGACGGTGTGGATTCTGCTCCTGCTGTCGCTCTACCCT
GGCTTCACTAGCCAGAAATCTGATGATGACTATGAAGATTATGCTTCTAACAAAACATGGGTCTTGACTCCAAAAGTTCCTGAGGGTGATGTCACTGTCATCTTA
AACAACCTGCTGGAAGGATATGACAATAAACTTCGGCCTGATATAGGAGTGAAGCCAACGTTAATTCACACAGACATGTATGTGAATAGCATTGGTCCAGTGAAC
GCTATCAATATGGAATACACTATTGATATATTTTTTGCGCAAACGTGGTATGACAGACGTTTGAAATTTAACAGCACCATTAAAGTCCTCCGATTGAACAGCAAC
ATGGTGGGGAAAATCTGGATTCCAGACACTTTCTTCAGAAATTCCAAAAAAGCTGATGCACACTGGATCACCACCCCCAACAGGATGCTGAGAATTTGGAATGAT
GGTCGAGTGCTCTACACCCTAAGGTTGACAATTGATGCTGAGTGCCAATTACAATTGCACAACTTTCCAATGGATGAACACTCCTGCCCCTTGGAGTTCTCCAGT
TATGGCTATCCACGTGAAGAAATTGTTTATCAATGGAAGCGAAGTTCTGTTGAAGTGGGCGACACAAGATCCTGGAGGCTTTATCAATTCTCATTTGTTGGTCTA
AGAAATACCACCGAAGTAGTGAAGACAACTTCCGGAGATTATGTGGTCATGTCTGTCTACTTTGATCTGAGCAGAAGAATGGGATACTTTACCATCCAGACCTAT
ATCCCCTGCACACTCATTGTCGTCCTATCCTGGGTGTCTTTCTGGATCAATAAGGATGCTGTTCCAGCCAGAACATCTTTAGGTATCACCACTGTCCTGACAATG
ACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTG
GTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGCCCCTACCATTGATATCCGCCCAAGA
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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)	0 (1)	2 (2)	2 (2)	1 (2)	0 (0)	0 (0)	23 (7)

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
CAUCASIAN
Ma, 2005_1	CAT, AGRE	TaqMan assay	470	- (-)			ASD	- (3-21)	- >35

Case Control Based Association Studies: 0

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

Large Scale Expression Studies Top

Microarray Studies: 2

Reference	Source	Tissue	#Subjects (% Women)	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
Voineagu, 2011_1	Unknown	16 frontal cortex(BA9) and 13 temporal cortex(BA41	16 (25.00%)	-	autism	16 (6.25%)	0.734294	Down	-
Platform: Illumina Ref8 v3 microarrays ProbeSet: ILMN_1800270 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_1	Unknown	16 frontal cortex(BA9) and 13 temporal cortex(BA41	16 (25.00%)	-	autism	16 (6.25%)	0.623626	Down	0.107648
Platform: Illumina Ref8 v3 microarrays ProbeSet: ILMN_2413964 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2	Unknown	frontal, BA44/45	10 (0.00%)	-	autism	6 (0.00%)	0.699533	Down	0.0288789
Platform: Illumina Ref8 v4 microarrays ProbeSet: ILMN_1800270 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2	Unknown	frontal, BA44/45	10 (0.00%)	-	autism	6 (0.00%)	0.693321	Down	0.144102
Platform: Illumina Ref8 v4 microarrays ProbeSet: ILMN_2413964 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.

Proteomics Studies:0

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
De Rubeis S, 2014	2270	-	1702	Synaptic, transcriptional and chromatin genes disrupted in autism
Takata A, 2018	262	262	322	Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
Dou Y, 2017	-	2361	230	Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
Krupp DR, 2017	-	2264	247	Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

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
No matched NGS Other Studies!

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 GABRG2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics