Evidence Details for GABRR2
Basic Information Top
| Gene Symbol: | GABRR2 ( - ) |
|---|---|
| Gene Full Name: | gamma-aminobutyric acid (GABA) receptor, rho 2 |
| Band: | 6q15 |
| Quick Links | Entrez ID:2570; OMIM: 137162; Uniprot ID:GBRR2_HUMAN; ENSEMBL ID: ENSG00000111886; HGNC ID: 4091 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GABRR2|2570|nucleotide
ATGGTCAAGCCAGGGGGGATTTGCTCTGCCACAGGCTACTGGAAAGCAGCTTTTTGCCTCACAGATGTCCACAAAATGCCTTATTTTACAAGACTCATTTTGTTC
TTGTTTTGCTTGATGGTTCTCGTGGAGAGCAGAAAACCCAAGAGGAAGCGATGGACAGGGCAGGTGGAAATGCCCAAGCCAAGTCACTTATATAAGAAGAACCTT
GATGTGACCAAGATCCGGAAGGGAAAGCCTCAGCAGCTTCTCAGAGTGGACGAGCACGACTTCAGCATGAGACCCGCCTTCGGAGGCCCTGCCATCCCGGTGGGC
GTGGACGTACAGGTGGAGAGCCTGGACAGCATCTCCGAGGTGGACATGGACTTCACTATGACCCTGTACCTGCGGCATTACTGGAAGGATGAGAGGCTAGCTTTC
TCCAGCGCCAGCAACAAGAGCATGACCTTCGATGGCCGGCTGGTGAAGAAGATCTGGGTCCCTGATGTCTTCTTTGTTCACTCCAAAAGATCGTTCACTCATGAC
ACCACCACTGACAACATCATGCTGAGGGTGTTCCCAGATGGACACGTGCTGTACAGCATGAGGATTACGGTCACTGCCATGTGCAACATGGACTTCAGCCACTTT
CCCCTGGACTCCCAGACCTGTTCTTTGGAGCTGGAGAGCTATGCCTATACAGATGAAGATCTAATGCTGTACTGGAAGAATGGGGATGAATCCCTAAAAACAGAT
GAGAAGATCTCCTTGTCTCAGTTTCTGATTCAGAAATTTCACACAACTTCCAGGCTGGCCTTCTACAGCAGCACTGGCTGGTACAACCGTCTGTACATTAACTTC
ACGTTGCGTCGCCACATCTTCTTCTTCTTGCTCCAAACATATTTCCCTGCCACTCTGATGGTCATGCTGTCCTGGGTGTCCTTCTGGATCGACCGCAGAGCTGTG
CCTGCCAGAGTTTCACTGGGTATCACGACGGTGCTGACCATGACCACCATCATCACGGGCGTGAATGCCTCCATGCCGCGCGTCTCCTACGTCAAGGCCGTGGAC
ATCTACCTCTGGGTCAGCTTTGTGTTCGTGTTCCTCTCGGTGCTGGAGTATGCGGCTGTCAACTACCTGACCACCGTGCAGGAGCGCAAGGAACGGAAGCTGCGG
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ATGGTCAAGCCAGGGGGGATTTGCTCTGCCACAGGCTACTGGAAAGCAGCTTTTTGCCTCACAGATGTCCACAAAATGCCTTATTTTACAAGACTCATTTTGTTC
TTGTTTTGCTTGATGGTTCTCGTGGAGAGCAGAAAACCCAAGAGGAAGCGATGGACAGGGCAGGTGGAAATGCCCAAGCCAAGTCACTTATATAAGAAGAACCTT
GATGTGACCAAGATCCGGAAGGGAAAGCCTCAGCAGCTTCTCAGAGTGGACGAGCACGACTTCAGCATGAGACCCGCCTTCGGAGGCCCTGCCATCCCGGTGGGC
GTGGACGTACAGGTGGAGAGCCTGGACAGCATCTCCGAGGTGGACATGGACTTCACTATGACCCTGTACCTGCGGCATTACTGGAAGGATGAGAGGCTAGCTTTC
TCCAGCGCCAGCAACAAGAGCATGACCTTCGATGGCCGGCTGGTGAAGAAGATCTGGGTCCCTGATGTCTTCTTTGTTCACTCCAAAAGATCGTTCACTCATGAC
ACCACCACTGACAACATCATGCTGAGGGTGTTCCCAGATGGACACGTGCTGTACAGCATGAGGATTACGGTCACTGCCATGTGCAACATGGACTTCAGCCACTTT
CCCCTGGACTCCCAGACCTGTTCTTTGGAGCTGGAGAGCTATGCCTATACAGATGAAGATCTAATGCTGTACTGGAAGAATGGGGATGAATCCCTAAAAACAGAT
GAGAAGATCTCCTTGTCTCAGTTTCTGATTCAGAAATTTCACACAACTTCCAGGCTGGCCTTCTACAGCAGCACTGGCTGGTACAACCGTCTGTACATTAACTTC
ACGTTGCGTCGCCACATCTTCTTCTTCTTGCTCCAAACATATTTCCCTGCCACTCTGATGGTCATGCTGTCCTGGGTGTCCTTCTGGATCGACCGCAGAGCTGTG
CCTGCCAGAGTTTCACTGGGTATCACGACGGTGCTGACCATGACCACCATCATCACGGGCGTGAATGCCTCCATGCCGCGCGTCTCCTACGTCAAGGCCGTGGAC
ATCTACCTCTGGGTCAGCTTTGTGTTCGTGTTCCTCTCGGTGCTGGAGTATGCGGCTGTCAACTACCTGACCACCGTGCAGGAGCGCAAGGAACGGAAGCTGCGG
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>GABRR2|2570|protein
MVKPGGICSATGYWKAAFCLTDVHKMPYFTRLILFLFCLMVLVESRKPKRKRWTGQVEMPKPSHLYKKNLDVTKIRKGKPQQLLRVDEHDFSMRPAFGGPAIPVG
VDVQVESLDSISEVDMDFTMTLYLRHYWKDERLAFSSASNKSMTFDGRLVKKIWVPDVFFVHSKRSFTHDTTTDNIMLRVFPDGHVLYSMRITVTAMCNMDFSHF
PLDSQTCSLELESYAYTDEDLMLYWKNGDESLKTDEKISLSQFLIQKFHTTSRLAFYSSTGWYNRLYINFTLRRHIFFFLLQTYFPATLMVMLSWVSFWIDRRAV
PARVSLGITTVLTMTTIITGVNASMPRVSYVKAVDIYLWVSFVFVFLSVLEYAAVNYLTTVQERKERKLREKFPCMCGMLHSKTMMLDGSYSESEANSLAGYPRS
HILTEEERQDKIVVHLGLSGEANAARKKGLLKGQTGFRIFQNTHAIDKYSRLIFPASYIFFNLIYWSVFS
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MVKPGGICSATGYWKAAFCLTDVHKMPYFTRLILFLFCLMVLVESRKPKRKRWTGQVEMPKPSHLYKKNLDVTKIRKGKPQQLLRVDEHDFSMRPAFGGPAIPVG
VDVQVESLDSISEVDMDFTMTLYLRHYWKDERLAFSSASNKSMTFDGRLVKKIWVPDVFFVHSKRSFTHDTTTDNIMLRVFPDGHVLYSMRITVTAMCNMDFSHF
PLDSQTCSLELESYAYTDEDLMLYWKNGDESLKTDEKISLSQFLIQKFHTTSRLAFYSSTGWYNRLYINFTLRRHIFFFLLQTYFPATLMVMLSWVSFWIDRRAV
PARVSLGITTVLTMTTIITGVNASMPRVSYVKAVDIYLWVSFVFVFLSVLEYAAVNYLTTVQERKERKLREKFPCMCGMLHSKTMMLDGSYSESEANSLAGYPRS
HILTEEERQDKIVVHLGLSGEANAARKKGLLKGQTGFRIFQNTHAIDKYSRLIFPASYIFFNLIYWSVFS
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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) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 10 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Ma, 2007 | USA | SNP-based genomic screen |  |  | autism | 26 | - | 26 | - | - | - | - |
Low 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 TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Chapman NH, 2015 | - | Illumina HIseq2000 | | | ASD | 7 | - | - | - | Sanger sequencing |
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.