Details for Gene NKX2-8

GENE NAME NKX2-8
CHROMOSOME 14
ENSEMBL ID ENSG00000136327
ENTREZ ID 26257
UNIPROT ACCESSION NUMBER O15522
GO MOLECULAR FUNCTION DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; sequence-specific double-stranded DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; sequence-specific DNA binding; DNA binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
1 combination linked to NKX2-8 OLI733
1 variant linked to NKX2-8 NKX2-8:c.530A>G, p.Asp177Gly
1 disease linked to NKX2-8 Isolated anencephaly

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