TCFL5

Chr 20

transcription factor like 5

Also known as: CHA, E2BP-1, Figlb, SOSF1, bHLHe82

NCBI Gene: 10732 ENSG00000101190 UniProt: Q9UL49

This gene encodes a transcription factor that represses RNA polymerase II-mediated gene transcription and regulates cell proliferation and spermatogenesis. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene is highly constrained against loss-of-function variants (pLI=0.99, LOEUF=0.26), indicating that complete loss of function is likely not tolerated in humans.

ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; regulation of cell population proliferation; and spermatogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

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

0.26

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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