TFAP4

Chr 16

transcription factor AP-4

Also known as: AP-4, bHLHc41

NCBI Gene: 7023 ENSG00000090447 UniProt: Q01664 OMIM: 600743

Transcription factor AP4 is a basic helix-loop-helix-zipper transcription factor that activates viral and cellular genes by binding to the symmetrical DNA sequence 5'-CAGCTG-3'. Mutations cause autosomal dominant developmental and epileptic encephalopathy with microcephaly. This gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· predicted