AutismKB 2.0

Evidence Details for KCNB2


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Basic Information Top
Gene Symbol:KCNB2 ( KV2.2 )
Gene Full Name: potassium voltage-gated channel, Shab-related subfamily, member 2
Band: 8q21.11
Quick LinksEntrez ID:9312; OMIM: 607738; Uniprot ID:KCNB2_HUMAN; ENSEMBL ID: ENSG00000182674; HGNC ID: 6232
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNB2|9312|nucleotide
ATGGCAGAAAAGGCTCCCCCGGGCTTAAACAGGAAGACTTCAAGGTCGACACTTTCCCTTCCTCCAGAGCCTGTGGACATTATCCGGAGCAAAACATGCTCCAGG
AGAGTTAAGATCAATGTGGGGGGCCTCAACCACGAAGTCCTGTGGAGAACGCTGGACAGGCTGCCCAGGACGCGCCTGGGGAAGCTTCGAGACTGCAACACACAC
GAGAGCCTCCTGGAAGTGTGCGACGACTATAATCTGAACGAGAACGAGTATTTCTTTGATCGGCATCCAGGAGCCTTCACTTCCATTTTAAATTTCTACCGGACC
GGGAAACTCCATATGATGGAAGAAATGTGTGCACTTTCGTTTGGCCAAGAACTTGATTACTGGGGGATTGATGAGATCTACTTGGAGTCCTGCTGCCAGGCCAGA
TATCATCAAAAAAAAGAACAAATGAACGAAGAACTGAGGCGAGAGGCAGAGACTATGCGAGAGCGAGAAGGAGAAGAGTTTGATAATACCTGCTGCCCTGATAAA
AGGAAGAAACTGTGGGACTTGCTGGAGAAACCTAACTCATCAGTGGCTGCAAAGATCCTGGCCATCGTGTCTATCCTGTTCATTGTGCTTTCCACCATTGCTTTG
TCTCTCAATACGCTGCCGGAGCTGCAGGAAACGGACGAATTTGGACAACTCAATGACAACCGCCAATTAGCACACGTGGAGGCTGTGTGTATTGCATGGTTTACC
ATGGAGTACCTTTTGCGATTCTTATCCTCACCAAATAAATGGAAGTTCTTCAAAGGCCCACTGAATGTCATTGATTTGCTGGCCATCTTGCCGTACTATGTCACC
ATTTTTCTGACGGAGTCCAACAAGAGCGTGCTGCAGTTCCAAAACGTGAGGCGCGTGGTCCAGATCTTCCGAATCATGCGCATCCTCAGGATCCTGAAACTCGCC
AGGCATTCGACAGGCCTGCAGTCTCTGGGTTTCACCCTTAGGCGGAGTTACAATGAATTGGGCTTGTTGATATTGTTTCTGGCCATGGGGATAATGATATTTTCC
AGCCTGGTATTTTTTGCTGAGAAGGATGAAGATGCTACCAAGTTCACCAGTATCCCTGCATCATTTTGGTGGGCCACCATCACCATGACCACTGTTGGCTATGGT
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>KCNB2|9312|protein
MAEKAPPGLNRKTSRSTLSLPPEPVDIIRSKTCSRRVKINVGGLNHEVLWRTLDRLPRTRLGKLRDCNTHESLLEVCDDYNLNENEYFFDRHPGAFTSILNFYRT
GKLHMMEEMCALSFGQELDYWGIDEIYLESCCQARYHQKKEQMNEELRREAETMREREGEEFDNTCCPDKRKKLWDLLEKPNSSVAAKILAIVSILFIVLSTIAL
SLNTLPELQETDEFGQLNDNRQLAHVEAVCIAWFTMEYLLRFLSSPNKWKFFKGPLNVIDLLAILPYYVTIFLTESNKSVLQFQNVRRVVQIFRIMRILRILKLA
RHSTGLQSLGFTLRRSYNELGLLILFLAMGIMIFSSLVFFAEKDEDATKFTSIPASFWWATITMTTVGYGDIYPKTLLGKIVGGLCCIAGVLVIALPIPIIVNNF
SEFYKEQKRQEKAIKRREALERAKRNGSIVSMNLKDAFARSMELIDVAVEKAGESANTKDSADDNHLSPSRWKWARKALSETSSNKSFENKYQEVSQKDSHEQLN
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 1 (3)
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
Linkage Studies Top