AutismKB 2.0

Evidence Details for TJP2


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Basic Information Top
Gene Symbol:TJP2 ( MGC26306,X104,ZO2 )
Gene Full Name: tight junction protein 2 (zona occludens 2)
Band: 9q21.11
Quick LinksEntrez ID:9414; OMIM: 607709; Uniprot ID:ZO2_HUMAN; ENSEMBL ID: ENSG00000119139; HGNC ID: 11828
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TJP2|9414|nucleotide
ATGGAAGAGCTGATATGGGAACAGTACACTGTGACCCTACAAAAGGATTCCAAAAGAGGATTTGGAATTGCAGTGTCCGGAGGCAGAGACAACCCCCACTTTGAA
AATGGAGAAACGTCAATTGTCATTTCTGATGTGCTCCCGGGTGGGCCTGCTGATGGGCTGCTCCAAGAAAATGACAGAGTGGTCATGGTCAATGGCACCCCCATG
GAGGATGTGCTTCATTCGTTTGCAGTTCAGCAGCTCAGAAAAAGTGGGAAGGTCGCTGCTATTGTGGTCAAGAGGCCCCGGAAGGTCCAGGTGGCCGCACTTCAG
GCCAGCCCTCCCCTGGATCAGGATGACCGGGCTTTTGAGGTGATGGACGAGTTTGATGGCAGAAGTTTCCGGAGTGGCTACAGCGAGAGGAGCCGGCTGAACAGC
CATGGGGGGCGCAGCCGCAGCTGGGAGGACAGCCCGGAAAGGGGGCGTCCCCATGAGCGGGCCCGGAGCCGGGAGCGGGACCTCAGCCGGGACCGGAGCCGTGGC
CGGAGCCTGGAGCGGGGCCTGGACCAAGACCATGCGCGCACCCGAGACCGCAGCCGTGGCCGGAGCCTGGAGCGGGGCCTGGACCACGACTTTGGGCCATCCCGG
GACCGGGACCGTGACCGCAGCCGCGGCCGGAGCATTGACCAGGACTACGAGCGAGCCTATCACCGGGCCTACGACCCAGACTACGAGCGGGCCTACAGCCCGGAG
TACAGGCGCGGGGCCCGCCACGATGCCCGCTCTCGGGGACCCCGAAGCCGCAGCCGCGAGCACCCGCACTCACGGAGCCCCAGCCCCGAGCCTAGGGGGCGGCCG
GGGCCCATCGGGGTCCTCCTGATGAAAAGCAGAGCGAACGAAGAGTATGGTCTCCGGCTTGGGAGTCAGATCTTCGTAAAGGAAATGACCCGAACGGGTCTGGCA
ACTAAAGATGGCAACCTTCACGAAGGAGACATAATTCTCAAGATCAATGGGACTGTAACTGAGAACATGTCTTTAACGGATGCTCGAAAATTGATAGAAAAGTCA
AGAGGAAAACTACAGCTAGTGGTGTTGAGAGACAGCCAGCAGACCCTCATCAACATCCCGTCATTAAATGACAGTGACTCAGAAATAGAAGATATTTCAGAAATA
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>TJP2|9414|protein
MEELIWEQYTVTLQKDSKRGFGIAVSGGRDNPHFENGETSIVISDVLPGGPADGLLQENDRVVMVNGTPMEDVLHSFAVQQLRKSGKVAAIVVKRPRKVQVAALQ
ASPPLDQDDRAFEVMDEFDGRSFRSGYSERSRLNSHGGRSRSWEDSPERGRPHERARSRERDLSRDRSRGRSLERGLDQDHARTRDRSRGRSLERGLDHDFGPSR
DRDRDRSRGRSIDQDYERAYHRAYDPDYERAYSPEYRRGARHDARSRGPRSRSREHPHSRSPSPEPRGRPGPIGVLLMKSRANEEYGLRLGSQIFVKEMTRTGLA
TKDGNLHEGDIILKINGTVTENMSLTDARKLIEKSRGKLQLVVLRDSQQTLINIPSLNDSDSEIEDISEIESNRSFSPEERRHQYSDYDYHSSSEKLKERPSSRE
DTPSRLSRMGATPTPFKSTGDIAGTVVPETNKEPRYQEDPPAPQPKAAPRTFLRPSPEDEAIYGPNTKMVRFKKGDSVGLRLAGGNDVGIFVAGIQEGTSAEQEG
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Evidence summary Top

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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 (2) 0 (0) 0 (0) 2 (2) 0 (1) 0 (0) 0 (1) 0 (0) 2 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top