Evidence Details for PPP2R2B
Basic Information Top
| Gene Symbol: | PPP2R2B ( B55BETA,FLJ95686,MGC24888,PP2AB55BETA,PP2ABBETA,PP2APR55B,PP2APR55BETA,PR2AB55BETA,PR2ABBETA,PR2APR55BETA,PR52B,PR55-BETA,PR55BETA,SCA12 ) |
|---|---|
| Gene Full Name: | protein phosphatase 2, regulatory subunit B, beta |
| Band: | 5q32 |
| Quick Links | Entrez ID:5521; OMIM: 604325; Uniprot ID:2ABB_HUMAN; ENSEMBL ID: ENSG00000156475; HGNC ID: 9305 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PPP2R2B|5521|nucleotide
ATGGAGGAGGACATTGATACCCGCAAAATCAACAACAGTTTCCTGCGCGACCACAGCTATGCGACCGAAGCTGACATTATCTCTACGGTAGAATTCAACCACACG
GGAGAATTACTAGCGACAGGGGACAAGGGGGGTCGGGTTGTAATATTTCAACGAGAGCAGGAGAGTAAAAATCAGGTTCATCGTAGGGGTGAATACAATGTTTAC
AGCACATTCCAGAGCCATGAACCCGAGTTCGATTACCTGAAGAGTTTAGAAATAGAAGAAAAAATCAATAAAATAAGATGGCTCCCCCAGCAGAATGCAGCTTAC
TTTCTTCTGTCTACTAATGATAAAACTGTGAAGCTGTGGAAAGTCAGCGAGCGTGATAAGAGGCCAGAAGGCTACAATCTGAAAGATGAGGAGGGCCGGCTCCGG
GATCCTGCCACCATCACAACCCTGCGGGTGCCTGTCCTGAGACCCATGGACCTGATGGTGGAGGCCACCCCACGAAGAGTATTTGCCAACGCACACACATATCAC
ATCAACTCCATATCTGTCAACAGCGACTATGAAACCTACATGTCCGCTGATGACCTGAGGATTAACCTATGGAACTTTGAAATAACCAATCAAAGTTTTAATATT
GTGGACATTAAGCCAGCCAACATGGAGGAGCTCACGGAGGTGATCACAGCAGCCGAGTTCCACCCCCATCATTGCAACACCTTCGTGTACAGCAGCAGCAAAGGG
ACAATCCGGCTGTGTGACATGCGGGCATCTGCCCTGTGTGACAGGCACACCAAATTTTTTGAAGAGCCGGAAGATCCAAGCAACAGATCATTTTTCTCTGAAATT
ATCTCTTCGATTTCGGATGTGAAGTTCAGCCACAGTGGGAGGTATATCATGACCAGGGACTACTTGACCGTCAAAGTCTGGGATCTCAACATGGAAAACCGCCCC
ATCGAGACTTACCAGGTTCATGACTACCTCCGCAGCAAGCTGTGTTCCCTCTATGAAAATGACTGCATTTTTGATAAATTTGAGTGTGTGTGGAATGGGTCAGAC
AGTGTCATCATGACAGGCTCCTACAACAACTTCTTCAGGATGTTCGACAGAAACACCAAGCGTGATGTGACCCTTGAGGCTTCGAGGGAAAACAGCAAGCCCCGG
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ATGGAGGAGGACATTGATACCCGCAAAATCAACAACAGTTTCCTGCGCGACCACAGCTATGCGACCGAAGCTGACATTATCTCTACGGTAGAATTCAACCACACG
GGAGAATTACTAGCGACAGGGGACAAGGGGGGTCGGGTTGTAATATTTCAACGAGAGCAGGAGAGTAAAAATCAGGTTCATCGTAGGGGTGAATACAATGTTTAC
AGCACATTCCAGAGCCATGAACCCGAGTTCGATTACCTGAAGAGTTTAGAAATAGAAGAAAAAATCAATAAAATAAGATGGCTCCCCCAGCAGAATGCAGCTTAC
TTTCTTCTGTCTACTAATGATAAAACTGTGAAGCTGTGGAAAGTCAGCGAGCGTGATAAGAGGCCAGAAGGCTACAATCTGAAAGATGAGGAGGGCCGGCTCCGG
GATCCTGCCACCATCACAACCCTGCGGGTGCCTGTCCTGAGACCCATGGACCTGATGGTGGAGGCCACCCCACGAAGAGTATTTGCCAACGCACACACATATCAC
ATCAACTCCATATCTGTCAACAGCGACTATGAAACCTACATGTCCGCTGATGACCTGAGGATTAACCTATGGAACTTTGAAATAACCAATCAAAGTTTTAATATT
GTGGACATTAAGCCAGCCAACATGGAGGAGCTCACGGAGGTGATCACAGCAGCCGAGTTCCACCCCCATCATTGCAACACCTTCGTGTACAGCAGCAGCAAAGGG
ACAATCCGGCTGTGTGACATGCGGGCATCTGCCCTGTGTGACAGGCACACCAAATTTTTTGAAGAGCCGGAAGATCCAAGCAACAGATCATTTTTCTCTGAAATT
ATCTCTTCGATTTCGGATGTGAAGTTCAGCCACAGTGGGAGGTATATCATGACCAGGGACTACTTGACCGTCAAAGTCTGGGATCTCAACATGGAAAACCGCCCC
ATCGAGACTTACCAGGTTCATGACTACCTCCGCAGCAAGCTGTGTTCCCTCTATGAAAATGACTGCATTTTTGATAAATTTGAGTGTGTGTGGAATGGGTCAGAC
AGTGTCATCATGACAGGCTCCTACAACAACTTCTTCAGGATGTTCGACAGAAACACCAAGCGTGATGTGACCCTTGAGGCTTCGAGGGAAAACAGCAAGCCCCGG
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>PPP2R2B|5521|protein
MEEDIDTRKINNSFLRDHSYATEADIISTVEFNHTGELLATGDKGGRVVIFQREQESKNQVHRRGEYNVYSTFQSHEPEFDYLKSLEIEEKINKIRWLPQQNAAY
FLLSTNDKTVKLWKVSERDKRPEGYNLKDEEGRLRDPATITTLRVPVLRPMDLMVEATPRRVFANAHTYHINSISVNSDYETYMSADDLRINLWNFEITNQSFNI
VDIKPANMEELTEVITAAEFHPHHCNTFVYSSSKGTIRLCDMRASALCDRHTKFFEEPEDPSNRSFFSEIISSISDVKFSHSGRYIMTRDYLTVKVWDLNMENRP
IETYQVHDYLRSKLCSLYENDCIFDKFECVWNGSDSVIMTGSYNNFFRMFDRNTKRDVTLEASRENSKPRAILKPRKVCVGGKRRKDEISVDSLDFSKKILHTAW
HPSENIIAVAATNNLYIFQDKVN
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MEEDIDTRKINNSFLRDHSYATEADIISTVEFNHTGELLATGDKGGRVVIFQREQESKNQVHRRGEYNVYSTFQSHEPEFDYLKSLEIEEKINKIRWLPQQNAAY
FLLSTNDKTVKLWKVSERDKRPEGYNLKDEEGRLRDPATITTLRVPVLRPMDLMVEATPRRVFANAHTYHINSISVNSDYETYMSADDLRINLWNFEITNQSFNI
VDIKPANMEELTEVITAAEFHPHHCNTFVYSSSKGTIRLCDMRASALCDRHTKFFEEPEDPSNRSFFSEIISSISDVKFSHSGRYIMTRDYLTVKVWDLNMENRP
IETYQVHDYLRSKLCSLYENDCIFDKFECVWNGSDSVIMTGSYNNFFRMFDRNTKRDVTLEASRENSKPRAILKPRKVCVGGKRRKDEISVDSLDFSKKILHTAW
HPSENIIAVAATNNLYIFQDKVN
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
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 TopLinkage Studies Top