AutismKB 2.0

Evidence Details for NKX2-2


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Basic Information Top
Gene Symbol:NKX2-2 ( NKX2.2,NKX2B )
Gene Full Name: NK2 homeobox 2
Band: 20p11.22
Quick LinksEntrez ID:4821; OMIM: 604612; Uniprot ID:NKX22_HUMAN; ENSEMBL ID: ENSG00000125820; HGNC ID: 7835
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NKX2-2|4821|nucleotide
ATGTCGCTGACCAACACAAAGACGGGGTTTTCGGTCAAGGACATCTTAGACCTGCCGGACACCAACGATGAGGAGGGCTCTGTGGCCGAAGGTCCGGAGGAAGAG
AACGAGGGGCCCGAGCCAGCCAAGAGGGCCGGGCCGCTGGGGCAGGGCGCCCTGGACGCGGTGCAGAGCCTGCCCCTGAAGAACCCCTTCTACGACAGCAGCGAC
AACCCGTACACGCGCTGGCTGGCCAGCACCGAGGGCCTTCAGTACTCCCTGCACGGTCTGGCTGCCGGGGCGCCCCCTCAGGACTCAAGCTCCAAGTCCCCGGAG
CCCTCGGCCGACGAGTCACCGGACAATGACAAGGAGACCCCGGGCGGCGGGGGGGACGCCGGCAAGAAGCGAAAGCGGCGAGTGCTTTTCTCCAAGGCGCAGACC
TACGAGCTGGAGCGGCGCTTTCGGCAGCAGCGGTACCTGTCGGCGCCCGAGCGCGAACACCTGGCCAGCCTCATCCGCCTCACGCCCACGCAGGTCAAGATCTGG
TTCCAGAACCACCGCTACAAGATGAAGCGCGCCCGGGCCGAGAAAGGTATGGAGGTGACGCCCCTGCCCTCGCCGCGCCGGGTGGCCGTGCCCGTCTTGGTCAGG
GACGGCAAACCATGTCACGCGCTCAAAGCCCAGGACCTGGCAGCCGCCACCTTCCAGGCGGGCATTCCCTTTTCTGCCTACAGCGCGCAGTCGCTGCAGCACATG
CAGTACAACGCCCAGTACAGCTCGGCCAGCACCCCCCAGTACCCGACAGCACACCCCCTGGTCCAGGCCCAGCAGTGGACTTGGTGA



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>NKX2-2|4821|protein
MSLTNTKTGFSVKDILDLPDTNDEEGSVAEGPEEENEGPEPAKRAGPLGQGALDAVQSLPLKNPFYDSSDNPYTRWLASTEGLQYSLHGLAAGAPPQDSSSKSPE
PSADESPDNDKETPGGGGDAGKKRKRRVLFSKAQTYELERRFRQQRYLSAPEREHLASLIRLTPTQVKIWFQNHRYKMKRARAEKGMEVTPLPSPRRVAVPVLVR
DGKPCHALKAQDLAAATFQAGIPFSAYSAQSLQHMQYNAQYSSASTPQYPTAHPLVQAQQWTW


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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top