Evidence Details for PRKAG2
Basic Information Top
| Gene Symbol: | PRKAG2 ( AAKG,AAKG2,CMH6,H91620p,WPWS ) |
|---|---|
| Gene Full Name: | protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
| Band: | 7q36.1 |
| Quick Links | Entrez ID:51422; OMIM: 602743; Uniprot ID:AAKG2_HUMAN; ENSEMBL ID: ENSG00000106617; HGNC ID: 9386 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PRKAG2|51422|nucleotide
ATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTGGACAGCCCCTTCGGCCCGGGCAGCCCCTCCAAAGGGTTCTTCTCCAGA
GGCCCCCAGCCCCGGCCCTCCAGCCCCATGTCTGCACCTGTGAGGCCCAAGACCAGCCCCGGCTCTCCCAAAACCGTGTTCCCGTTCTCCTACCAGGAGTCCCCG
CCACGCTCCCCTCGACGCATGAGCTTCAGTGGGATCTTCCGCTCCTCCTCCAAAGAGTCTTCCCCCAACTCCAACCCTGCTACCTCGCCCGGGGGCATCAGGTTT
TTCTCCCGCTCCAGAAAAACCTCCGGCCTCTCCTCCTCTCCGTCAACACCCACCCAAGTGACCAAGCAGCACACGTTTCCCCTGGAATCCTATAAGCACGAGCCT
GAACGGTTAGAGAATCGCATCTATGCCTCGTCTTCCCCCCCGGACACAGGGCAGAGGTTCTGCCCGTCTTCCTTCCAGAGCCCGACCAGGCCTCCACTGGCATCA
CCGACACACTATGCTCCCTCCAAAGCCGCGGCGCTGGCGGCGGCCCTGGGACCCGCGGAAGCCGGCATGCTGGAGAAGCTGGAGTTCGAGGACGAAGCAGTAGAA
GACTCAGAAAGTGGTGTTTACATGCGATTCATGAGGTCACACAAGTGTTATGACATCGTTCCAACCAGTTCAAAGCTTGTTGTCTTTGATACTACATTACAAGTT
AAAAAGGCCTTCTTTGCTTTGGTAGCCAACGGTGTCCGAGCAGCGCCACTGTGGGAGAGTAAAAAACAAAGTTTTGTAGGAATGCTAACAATTACAGATTTCATA
AATATACTACATAGATACTATAAATCACCTATGGTACAGATTTATGAATTAGAGGAACATAAAATTGAAACATGGAGGGAGCTTTATTTACAAGAAACATTTAAG
CCTTTAGTGAATATATCTCCAGATGCAAGCCTCTTCGATGCTGTATACTCCTTGATCAAAAATAAAATCCACAGATTGCCCGTTATTGACCCTATCAGTGGGAAT
GCACTTTATATACTTACCCACAAAAGAATCCTCAAGTTCCTCCAGCTTTTTATGTCTGATATGCCAAAGCCTGCCTTCATGAAGCAGAACCTGGATGAGCTTGGA
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ATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTGGACAGCCCCTTCGGCCCGGGCAGCCCCTCCAAAGGGTTCTTCTCCAGA
GGCCCCCAGCCCCGGCCCTCCAGCCCCATGTCTGCACCTGTGAGGCCCAAGACCAGCCCCGGCTCTCCCAAAACCGTGTTCCCGTTCTCCTACCAGGAGTCCCCG
CCACGCTCCCCTCGACGCATGAGCTTCAGTGGGATCTTCCGCTCCTCCTCCAAAGAGTCTTCCCCCAACTCCAACCCTGCTACCTCGCCCGGGGGCATCAGGTTT
TTCTCCCGCTCCAGAAAAACCTCCGGCCTCTCCTCCTCTCCGTCAACACCCACCCAAGTGACCAAGCAGCACACGTTTCCCCTGGAATCCTATAAGCACGAGCCT
GAACGGTTAGAGAATCGCATCTATGCCTCGTCTTCCCCCCCGGACACAGGGCAGAGGTTCTGCCCGTCTTCCTTCCAGAGCCCGACCAGGCCTCCACTGGCATCA
CCGACACACTATGCTCCCTCCAAAGCCGCGGCGCTGGCGGCGGCCCTGGGACCCGCGGAAGCCGGCATGCTGGAGAAGCTGGAGTTCGAGGACGAAGCAGTAGAA
GACTCAGAAAGTGGTGTTTACATGCGATTCATGAGGTCACACAAGTGTTATGACATCGTTCCAACCAGTTCAAAGCTTGTTGTCTTTGATACTACATTACAAGTT
AAAAAGGCCTTCTTTGCTTTGGTAGCCAACGGTGTCCGAGCAGCGCCACTGTGGGAGAGTAAAAAACAAAGTTTTGTAGGAATGCTAACAATTACAGATTTCATA
AATATACTACATAGATACTATAAATCACCTATGGTACAGATTTATGAATTAGAGGAACATAAAATTGAAACATGGAGGGAGCTTTATTTACAAGAAACATTTAAG
CCTTTAGTGAATATATCTCCAGATGCAAGCCTCTTCGATGCTGTATACTCCTTGATCAAAAATAAAATCCACAGATTGCCCGTTATTGACCCTATCAGTGGGAAT
GCACTTTATATACTTACCCACAAAAGAATCCTCAAGTTCCTCCAGCTTTTTATGTCTGATATGCCAAAGCCTGCCTTCATGAAGCAGAACCTGGATGAGCTTGGA
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>PRKAG2|51422|protein
MPLLDGDLEGSGKHSSRKVDSPFGPGSPSKGFFSRGPQPRPSSPMSAPVRPKTSPGSPKTVFPFSYQESPPRSPRRMSFSGIFRSSSKESSPNSNPATSPGGIRF
FSRSRKTSGLSSSPSTPTQVTKQHTFPLESYKHEPERLENRIYASSSPPDTGQRFCPSSFQSPTRPPLASPTHYAPSKAAALAAALGPAEAGMLEKLEFEDEAVE
DSESGVYMRFMRSHKCYDIVPTSSKLVVFDTTLQVKKAFFALVANGVRAAPLWESKKQSFVGMLTITDFINILHRYYKSPMVQIYELEEHKIETWRELYLQETFK
PLVNISPDASLFDAVYSLIKNKIHRLPVIDPISGNALYILTHKRILKFLQLFMSDMPKPAFMKQNLDELGIGTYHNIAFIHPDTPIIKALNIFVERRISALPVVD
ESGKVVDIYSKFDVINLAAEKTYNNLDITVTQALQHRSQYFEGVVKCNKLEILETIVDRIVRAEVHRLVVVNEADSIVGIISLSDILQALILTPAGAKQKETETE
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MPLLDGDLEGSGKHSSRKVDSPFGPGSPSKGFFSRGPQPRPSSPMSAPVRPKTSPGSPKTVFPFSYQESPPRSPRRMSFSGIFRSSSKESSPNSNPATSPGGIRF
FSRSRKTSGLSSSPSTPTQVTKQHTFPLESYKHEPERLENRIYASSSPPDTGQRFCPSSFQSPTRPPLASPTHYAPSKAAALAAALGPAEAGMLEKLEFEDEAVE
DSESGVYMRFMRSHKCYDIVPTSSKLVVFDTTLQVKKAFFALVANGVRAAPLWESKKQSFVGMLTITDFINILHRYYKSPMVQIYELEEHKIETWRELYLQETFK
PLVNISPDASLFDAVYSLIKNKIHRLPVIDPISGNALYILTHKRILKFLQLFMSDMPKPAFMKQNLDELGIGTYHNIAFIHPDTPIIKALNIFVERRISALPVVD
ESGKVVDIYSKFDVINLAAEKTYNNLDITVTQALQHRSQYFEGVVKCNKLEILETIVDRIVRAEVHRLVVVNEADSIVGIISLSDILQALILTPAGAKQKETETE
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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 (1) | 0 (1) | 1 (2) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| 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 | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Liu, 2001 | USA | microsatellite-based genomic screen | | | autism, ASD | 110 | - | 110 | - | - | - | - |
| Molloy, 2005 | USA | microsatellite-based genomic screen | | | ASD | 34 | - | 34 | - | - | - | - |
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 | ||||||||||
| Alarcon, 2008_1 | AGRE | Perlegen, Southern Caifornia Genotyping Center, Taqman assay | 304 | - (-) | | | AD | - - |
- - | |
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 |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
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.