Evidence Details for GABRA2
Basic Information Top
| Gene Symbol: | GABRA2 ( FLJ97076 ) |
|---|---|
| Gene Full Name: | gamma-aminobutyric acid (GABA) A receptor, alpha 2 |
| Band: | 4p12 |
| Quick Links | Entrez ID:2555; OMIM: 137140; Uniprot ID:GBRA2_HUMAN; ENSEMBL ID: ENSG00000151834; HGNC ID: 4076 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GABRA2|2555|nucleotide
ATGAAGACAAAATTGAACATCTACAACATGCAGTTCCTGCTTTTTGTTTTCTTGGTGTGGGACCCTGCCAGGTTGGTGCTGGCTAACATCCAAGAAGATGAGGCT
AAAAATAACATTACCATCTTTACGAGAATTCTTGACAGACTTCTGGATGGTTACGATAATCGGCTTAGACCAGGACTGGGAGACAGTATTACTGAAGTCTTCACT
AACATCTACGTGACCAGTTTTGGCCCTGTCTCAGATACAGATATGGAATATACAATTGATGTTTTCTTTCGACAAAAATGGAAAGATGAACGTTTAAAATTTAAA
GGTCCTATGAATATCCTTCGACTAAACAATTTAATGGCTAGCAAAATCTGGACTCCAGATACCTTTTTTCACAATGGGAAAAAATCAGTAGCTCATAATATGACA
ATGCCAAATAAGTTGCTTCGAATTCAGGATGATGGGACTCTGCTGTATACCATGAGGCTTACAGTTCAAGCTGAATGCCCAATGCACTTGGAGGATTTCCCAATG
GATGCTCATTCATGTCCTCTGAAATTTGGCAGCTATGCATATACAACTTCAGAGGTCACTTATATTTGGACTTACAATGCATCTGATTCAGTACAGGTTGCTCCT
GATGGCTCTAGGTTAAATCAATATGACCTGCTGGGCCAATCAATCGGAAAGGAGACAATTAAATCCAGTACAGGTGAATATACTGTAATGACAGCTCATTTCCAC
CTGAAAAGAAAAATTGGGTATTTTGTGATTCAAACCTATCTGCCTTGCATCATGACTGTCATTCTCTCCCAAGTTTCATTCTGGCTTAACAGAGAATCTGTGCCT
GCAAGAACTGTGTTTGGAGTAACAACTGTCCTAACAATGACAACTCTAAGCATCAGTGCTCGGAATTCTCTCCCCAAAGTGGCTTATGCAACTGCCATGGACTGG
TTTATTGCTGTTTGTTATGCATTTGTGTTCTCTGCCCTAATTGAATTTGCAACTGTTAATTACTTCACCAAAAGAGGATGGGCTTGGGATGGGAAGAGTGTAGTA
AATGACAAGAAAAAAGAAAAGGCTTCCGTTATGATACAGAACAACGCTTATGCAGTGGCTGTTGCCAATTATGCCCCGAATCTTTCAAAAGATCCAGTTCTCTCC
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ATGAAGACAAAATTGAACATCTACAACATGCAGTTCCTGCTTTTTGTTTTCTTGGTGTGGGACCCTGCCAGGTTGGTGCTGGCTAACATCCAAGAAGATGAGGCT
AAAAATAACATTACCATCTTTACGAGAATTCTTGACAGACTTCTGGATGGTTACGATAATCGGCTTAGACCAGGACTGGGAGACAGTATTACTGAAGTCTTCACT
AACATCTACGTGACCAGTTTTGGCCCTGTCTCAGATACAGATATGGAATATACAATTGATGTTTTCTTTCGACAAAAATGGAAAGATGAACGTTTAAAATTTAAA
GGTCCTATGAATATCCTTCGACTAAACAATTTAATGGCTAGCAAAATCTGGACTCCAGATACCTTTTTTCACAATGGGAAAAAATCAGTAGCTCATAATATGACA
ATGCCAAATAAGTTGCTTCGAATTCAGGATGATGGGACTCTGCTGTATACCATGAGGCTTACAGTTCAAGCTGAATGCCCAATGCACTTGGAGGATTTCCCAATG
GATGCTCATTCATGTCCTCTGAAATTTGGCAGCTATGCATATACAACTTCAGAGGTCACTTATATTTGGACTTACAATGCATCTGATTCAGTACAGGTTGCTCCT
GATGGCTCTAGGTTAAATCAATATGACCTGCTGGGCCAATCAATCGGAAAGGAGACAATTAAATCCAGTACAGGTGAATATACTGTAATGACAGCTCATTTCCAC
CTGAAAAGAAAAATTGGGTATTTTGTGATTCAAACCTATCTGCCTTGCATCATGACTGTCATTCTCTCCCAAGTTTCATTCTGGCTTAACAGAGAATCTGTGCCT
GCAAGAACTGTGTTTGGAGTAACAACTGTCCTAACAATGACAACTCTAAGCATCAGTGCTCGGAATTCTCTCCCCAAAGTGGCTTATGCAACTGCCATGGACTGG
TTTATTGCTGTTTGTTATGCATTTGTGTTCTCTGCCCTAATTGAATTTGCAACTGTTAATTACTTCACCAAAAGAGGATGGGCTTGGGATGGGAAGAGTGTAGTA
AATGACAAGAAAAAAGAAAAGGCTTCCGTTATGATACAGAACAACGCTTATGCAGTGGCTGTTGCCAATTATGCCCCGAATCTTTCAAAAGATCCAGTTCTCTCC
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>GABRA2|2555|protein
MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRILDRLLDGYDNRLRPGLGDSITEVFTNIYVTSFGPVSDTDMEYTIDVFFRQKWKDERLKFK
GPMNILRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRIQDDGTLLYTMRLTVQAECPMHLEDFPMDAHSCPLKFGSYAYTTSEVTYIWTYNASDSVQVAP
DGSRLNQYDLLGQSIGKETIKSSTGEYTVMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDW
FIAVCYAFVFSALIEFATVNYFTKRGWAWDGKSVVNDKKKEKASVMIQNNAYAVAVANYAPNLSKDPVLSTISKSATTPEPNKKPENKPAEAKKTFNSVSKIDRM
SRIVFPVLFGTFNLVYWATYLNREPVLGVSP
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MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRILDRLLDGYDNRLRPGLGDSITEVFTNIYVTSFGPVSDTDMEYTIDVFFRQKWKDERLKFK
GPMNILRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRIQDDGTLLYTMRLTVQAECPMHLEDFPMDAHSCPLKFGSYAYTTSEVTYIWTYNASDSVQVAP
DGSRLNQYDLLGQSIGKETIKSSTGEYTVMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDW
FIAVCYAFVFSALIEFATVNYFTKRGWAWDGKSVVNDKKKEKASVMIQNNAYAVAVANYAPNLSKDPVLSTISKSATTPEPNKKPENKPAEAKKTFNSVSKIDRM
SRIVFPVLFGTFNLVYWATYLNREPVLGVSP
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Evidence summary TopClick 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) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 24 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Sabaratnam, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| 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 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations 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 TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.